A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
A multi-functional catenin that participates in CELL ADHESION and nuclear signaling. Beta catenin binds CADHERINS and helps link their cytoplasmic tails to the ACTIN in the CYTOSKELETON via ALPHA CATENIN. It also serves as a transcriptional co-activator and downstream component of WNT PROTEIN-mediated SIGNAL TRANSDUCTION PATHWAYS.
Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.
Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.
A scaffolding protein that is a critical component of the axin signaling complex which binds to ADENOMATOUS POLYPOSIS COLI PROTEIN; GLYCOGEN SYNTHASE KINASE 3; and CASEIN KINASE I.
Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)
The growth of INTESTINAL POLYPS. Growth processes include neoplastic (ADENOMA and CARCINOMA) and non-neoplastic (hyperplastic, mucosal, inflammatory, and other polyps).
A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)
A benign epithelial tumor with a glandular organization.
Tumors or cancer of the INTESTINES.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
Tumors or cancer of the COLON.
Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.
Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.
Wnt proteins are a large family of secreted glycoproteins that play essential roles in EMBRYONIC AND FETAL DEVELOPMENT, and tissue maintenance. They bind to FRIZZLED RECEPTORS and act as PARACRINE PROTEIN FACTORS to initiate a variety of SIGNAL TRANSDUCTION PATHWAYS. The canonical Wnt signaling pathway stabilizes the transcriptional coactivator BETA CATENIN.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Tumors or cancer of the DUODENUM.
Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base.
A family of DNA-binding proteins that are primarily expressed in T-LYMPHOCYTES. They interact with BETA CATENIN and serve as transcriptional activators and repressors in a variety of developmental processes.
A sulfinylindene derivative prodrug whose sulfinyl moiety is converted in vivo to an active NSAID analgesic. Specifically, the prodrug is converted by liver enzymes to a sulfide which is excreted in the bile and then reabsorbed from the intestine. This helps to maintain constant blood levels with reduced gastrointestinal side effects.
A surgical procedure involving the excision of the COLON and RECTUM and the formation of an ILEOANAL RESERVOIR (pouch). In patients with intestinal diseases, such as ulcerative colitis, this procedure avoids the need for an OSTOMY by allowing for transanal defecation.
A family of proteins that contain several 42-amino acid repeat domains and are homologous to the Drosophila armadillo protein. They bind to other proteins through their armadillo domains and play a variety of roles in the CELL including SIGNAL TRANSDUCTION, regulation of DESMOSOME assembly, and CELL ADHESION.
A glycogen synthase kinase that was originally described as a key enzyme involved in glycogen metabolism. It regulates a diverse array of functions such as CELL DIVISION, microtubule function and APOPTOSIS.
A transcription factor that takes part in WNT signaling pathway. The activity of the protein is regulated via its interaction with BETA CATENIN. Transcription factor 7-like 2 protein plays an important role in the embryogenesis of the PANCREAS and ISLET CELLS.
A specific complex of WNT SIGNALING PATHWAY proteins that mediates the phosphorylation-dependent destruction of cytosolic BETA-CATENIN. The complex is disrupted by cell surface binding of WNT PROTEINS, which allows beta-catenin levels to rise to the point where they migrate to the CELL NUCLEUS and activate transcription.
A T-cell factor that plays an essential role in EMBRYONIC DEVELOPMENT.
Sacs or reservoirs created to function in place of the COLON and/or RECTUM in patients who have undergone restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).
A class of protein-serine-threonine kinases that was originally found as one of the three types of kinases that phosphorylate GLYCOGEN SYNTHASE. Glycogen synthase kinases along with CA(2+)-CALMODULIN DEPENDENT PROTEIN KINASES and CYCLIC AMP-DEPENDENT PROTEIN KINASES regulate glycogen synthase activity.
Biochemical identification of mutational changes in a nucleotide sequence.
A complex signaling pathway whose name is derived from the DROSOPHILA Wg gene, which when mutated results in the wingless phenotype, and the vertebrate INT gene, which is located near integration sites of MOUSE MAMMARY TUMOR VIRUS. The signaling pathway is initiated by the binding of WNT PROTEINS to cells surface WNT RECEPTORS which interact with the AXIN SIGNALING COMPLEX and an array of second messengers that influence the actions of BETA CATENIN.
The segment of LARGE INTESTINE between the CECUM and the RECTUM. It includes the ASCENDING COLON; the TRANSVERSE COLON; the DESCENDING COLON; and the SIGMOID COLON.
Proteins obtained from ESCHERICHIA COLI.
The largest subunit of the anaphase-promoting complex. It acts primarily as a scaffold for the proper organization and arrangement of subunits. The C-terminal region of Apc1 contains a series of tandem amino acid repeats that are also seen in the 26S proteasome regulatory particle, and may assist with forming and stabilizing protein-protein interactions.
Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
Calcium-dependent cell adhesion proteins. They are important in the formation of ADHERENS JUNCTIONS between cells. Cadherins are classified by their distinct immunological and tissue specificities, either by letters (E- for epithelial, N- for neural, and P- for placental cadherins) or by numbers (cadherin-12 or N-cadherin 2 for brain-cadherin). Cadherins promote cell adhesion via a homophilic mechanism as in the construction of tissues and of the whole animal body.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Excision of a portion of the colon or of the whole colon. (Dorland, 28th ed)
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Proteins obtained from the ZEBRAFISH. Many of the proteins in this species have been the subject of studies involving basic embryological development (EMBRYOLOGY).
A malignant epithelial tumor with a glandular organization.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).
Endoscopic examination, therapy or surgery of the luminal surface of the duodenum.
Infections with bacteria of the species ESCHERICHIA COLI.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL.
DNA present in neoplastic tissue.
High molecular weight proteins found in the MICROTUBULES of the cytoskeletal system. Under certain conditions they are required for TUBULIN assembly into the microtubules and stabilize the assembled microtubules.
A proto-oncogene protein and member of the Wnt family of proteins. It is expressed in the caudal MIDBRAIN and is essential for proper development of the entire mid-/hindbrain region.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
The section of the alimentary canal from the STOMACH to the ANAL CANAL. It includes the LARGE INTESTINE and SMALL INTESTINE.
Human COLORECTAL CARCINOMA cell line.
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
Specialized structures of the cell that extend the cell membrane and project out from the cell surface.
Anti-inflammatory agents that are non-steroidal in nature. In addition to anti-inflammatory actions, they have analgesic, antipyretic, and platelet-inhibitory actions.They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. Inhibition of prostaglandin synthesis accounts for their analgesic, antipyretic, and platelet-inhibitory actions; other mechanisms may contribute to their anti-inflammatory effects.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A catenin that binds F-ACTIN and links the CYTOSKELETON with BETA CATENIN and GAMMA CATENIN.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
Deletion of sequences of nucleic acids from the genetic material of an individual.
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).
A cell line derived from cultured tumor cells.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Established cell cultures that have the potential to propagate indefinitely.
Endoscopic examination, therapy or surgery of the luminal surface of the colon.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
Mice bearing mutant genes which are phenotypically expressed in the animals.
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Proteins obtained from various species of Xenopus. Included here are proteins from the African clawed frog (XENOPUS LAEVIS). Many of these proteins have been the subject of scientific investigations in the area of MORPHOGENESIS and development.
An inducibly-expressed subtype of prostaglandin-endoperoxide synthase. It plays an important role in many cellular processes and INFLAMMATION. It is the target of COX2 INHIBITORS.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
A benign tumor of fibrous or fully developed connective tissue.
Human colonic ADENOCARCINOMA cells that are able to express differentiation features characteristic of mature intestinal cells such as the GOBLET CELLS.
Agents that reduce the frequency or rate of spontaneous or induced tumors independently of the mechanism involved.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
An individual having different alleles at one or more loci regarding a specific character.
The part of a cell that contains the CYTOSOL and small structures excluding the CELL NUCLEUS; MITOCHONDRIA; and large VACUOLES. (Glick, Glossary of Biochemistry and Molecular Biology, 1990)
Surgical union or shunt between ducts, tubes or vessels. It may be end-to-end, end-to-side, side-to-end, or side-to-side.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
A Wnt protein subtype that plays a role in cell-cell signaling during EMBRYONIC DEVELOPMENT and the morphogenesis of the developing NEURAL TUBE.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL.
Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.
Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules.
An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
Tumors or cancer of the RECTUM.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A verocytotoxin-producing serogroup belonging to the O subfamily of Escherichia coli which has been shown to cause severe food-borne disease. A strain from this serogroup, serotype H7, which produces SHIGA TOXINS, has been linked to human disease outbreaks resulting from contamination of foods by E. coli O157 from bovine origin.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
A multi-functional catenin that is highly homologous to BETA CATENIN. Gamma catenin binds CADHERINS and helps link their cytoplasmic tails to ACTIN in the CYTOSKELETON via ALPHA CATENIN. It is also found in DESMOSOMES where it mediates the link between DESMOSOMAL CADHERINS and DESMOPLAKIN.
Microscopy of specimens stained with fluorescent dye (usually fluorescein isothiocyanate) or of naturally fluorescent materials, which emit light when exposed to ultraviolet or blue light. Immunofluorescence microscopy utilizes antibodies that are labeled with fluorescent dye.
Actual loss of portion of a chromosome.
The portion of the GASTROINTESTINAL TRACT between the PYLORUS of the STOMACH and the ILEOCECAL VALVE of the LARGE INTESTINE. It is divisible into three portions: the DUODENUM, the JEJUNUM, and the ILEUM.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
A CALMODULIN-dependent enzyme that catalyzes the phosphorylation of proteins. This enzyme is also sometimes dependent on CALCIUM. A wide range of proteins can act as acceptor, including VIMENTIN; SYNAPSINS; GLYCOGEN SYNTHASE; MYOSIN LIGHT CHAINS; and the MICROTUBULE-ASSOCIATED PROTEINS. (From Enzyme Nomenclature, 1992, p277)
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
A family of DNA repair enzymes that recognize damaged nucleotide bases and remove them by hydrolyzing the N-glycosidic bond that attaches them to the sugar backbone of the DNA molecule. The process called BASE EXCISION REPAIR can be completed by a DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE which excises the remaining RIBOSE sugar from the DNA.
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The distal and narrowest portion of the SMALL INTESTINE, between the JEJUNUM and the ILEOCECAL VALVE of the LARGE INTESTINE.
Tumors or cancer of the STOMACH.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Abdominal neoplasms refer to abnormal growths or tumors occurring within the abdominal cavity, which can be benign or malignant, and affect various organs such as the pancreas, liver, kidneys, or intestines.
The superior portion of the body of the stomach above the level of the cardiac notch.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
The movement of cells from one location to another. Distinguish from CYTOKINESIS which is the process of dividing the CYTOPLASM of a cell.
Tumors or cancer of the CECUM.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)
CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
Relatively undifferentiated cells that retain the ability to divide and proliferate throughout postnatal life to provide progenitor cells that can differentiate into specialized cells.
Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL).
The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.
Orientation of intracellular structures especially with respect to the apical and basolateral domains of the plasma membrane. Polarized cells must direct proteins from the Golgi apparatus to the appropriate domain since tight junctions prevent proteins from diffusing between the two domains.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
Elements of limited time intervals, contributing to particular results or situations.
Macromolecular complexes formed from the association of defined protein subunits.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
An aquatic genus of the family, Pipidae, occurring in Africa and distinguished by having black horny claws on three inner hind toes.
A dilation of the duodenal papilla that is the opening of the juncture of the COMMON BILE DUCT and the MAIN PANCREATIC DUCT, also known as the hepatopancreatic ampulla.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Transport proteins that carry specific substances in the blood or across cell membranes.
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics.

Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. (1/796)

The adenomatous polyposis coli (APC) tumour-suppressor protein controls the Wnt signalling pathway by forming a complex with glycogen synthase kinase 3beta (GSK-3beta), axin/conductin and betacatenin. Complex formation induces the rapid degradation of betacatenin. In colon carcinoma cells, loss of APC leads to the accumulation of betacatenin in the nucleus, where it binds to and activates the Tcf-4 transcription factor (reviewed in [1] [2]). Here, we report the identification and genomic structure of APC homologues. Mammalian APC2, which closely resembles APC in overall domain structure, was functionally analyzed and shown to contain two SAMP domains, both of which are required for binding to conductin. Like APC, APC2 regulates the formation of active betacatenin-Tcf complexes, as demonstrated using transient transcriptional activation assays in APC -/- colon carcinoma cells. Human APC2 maps to chromosome 19p13.3. APC and APC2 may therefore have comparable functions in development and cancer.  (+info)

Expression of CD44 in Apc and Tcf mutant mice implies regulation by the WNT pathway. (2/796)

Overexpression of cell surface glycoproteins of the CD44 family is an early event in the colorectal adenoma-carcinoma sequence. This suggests a link with disruption of APC tumor suppressor protein-mediated regulation of beta-catenin/Tcf-4 signaling, which is crucial in initiating tumorigenesis. To explore this hypothesis, we analyzed CD44 expression in the intestinal mucosa of mice and humans with genetic defects in either APC or Tcf-4, leading to constitutive activation or blockade of the beta-catenin/Tcf-4 pathway, respectively. We show that CD44 expression in the non-neoplastic intestinal mucosa of Apc mutant mice is confined to the crypt epithelium but that CD44 is strongly overexpressed in adenomas as well as in invasive carcinomas. This overexpression includes the standard part of the CD44 (CD44s) as well as variant exons (CD44v). Interestingly, deregulated CD44 expression is already present in aberrant crypt foci with dysplasia (ACFs), the earliest detectable lesions of colorectal neoplasia. Like ACFs of Apc-mutant mice, ACFs of familial adenomatous polyposis (FAP) patients also overexpress CD44. In sharp contrast, Tcf-4 mutant mice show a complete absence of CD44 in the epithelium of the small intestine. This loss of CD44 concurs with loss of stem cell characteristics, shared with adenoma cells. Our results indicate that CD44 expression is part of a genetic program controlled by the beta-catenin/Tcf-4 signaling pathway and suggest a role for CD44 in the generation and turnover of epithelial cells.  (+info)

Analysis of masked mutations in familial adenomatous polyposis. (3/796)

Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of patients, MAMA (monoallelic mutation analysis) was used to independently examine the status of each of the two APC alleles. Seven of nine patients analyzed were found to have significantly reduced expression from one of their two alleles whereas two patients were found to have full-length expression from both alleles. We conclude that more than 95% of patients with FAP have inactivating mutations in APC and that a combination of MAMA and standard genetic tests will identify APC abnormalities in the vast majority of such patients. That no APC expression from the mutant allele is found in some FAP patients argues strongly against the requirement for dominant negative effects of APC mutations. The results also suggest that there may be at least one additional gene, besides APC, that can give rise to FAP.  (+info)

Administration of an unconjugated bile acid increases duodenal tumors in a murine model of familial adenomatous polyposis. (4/796)

Intestinal carcinogenesis involves the successive accumulation of multiple genetic defects until cellular transformation to an invasive phenotype occurs. This process is modulated by many epigenetic factors. Unconjugated bile acids are tumor promoters whose presence in intestinal tissues is regulated by dietary factors. We studied the role of the unconjugated bile acid, chenodeoxycholate, in an animal model of familial adenomatous polyposis. Mice susceptible to intestinal tumors as a result of a germline mutation in Apc (Min/+ mice) were given a 10 week dietary treatment with 0.5% chenodeoxycholate. Following this, the mice were examined to determine tumor number, enterocyte proliferation, apoptosis and beta-catenin expression. Intestinal tissue prostaglandin E2 (PGE2) levels were also assessed. Administration of chenodeoxycholate in the diet increased duodenal tumor number in Min/+ mice. Promotion of duodenal tumor formation was accompanied by increased beta-catenin expression in duodenal cells, as well as increased PGE2 in duodenal tissue. These data suggest that unconjugated bile acids contribute to periampullary tumor formation in the setting of an Apc mutation.  (+info)

Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. (5/796)

OBJECTIVE: Using an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. SUMMARY BACKGROUND DATA: Germline mutations in the APC gene predispose to FAP. Established and proposed genotype-phenotype correlations as well as the influence of mutation site on surgical procedures have been reported. The predictive value of APC mutation analysis for disease manifestation and therapeutic decision making needs to be investigated further. METHODS: One hundred twenty-three kindreds of the local FAP registry were included in this study. CHRPE phenotype was defined as at least one large characteristic lesion or a total of four lesions in both eyes. APC mutations were identified by protein truncation test and automated DNA sequencing from patient lymphocyte DNA and RNA. RESULTS: APC germline mutations were identified in 85/123 families with FAP. They were located between codons 213 and 1581 of the APC gene and displayed distinct genotype-phenotype correlations. CHRPE status facilitated mutation analysis by discriminating regions of interest within the APC coding region. Severe manifestations of desmoids were restricted to mutations between codons 1444 through 1581. Whereas 91% (75/82) of at-risk persons were excluded as mutation carriers, APC germline mutations were detected before clinical examination in 9% (7/82) of at-risk persons. One patient agreed to endoscopy only after mutation detection. CONCLUSIONS: This study supports the feasibility of combined molecular and clinical screening of families with FAP and may provide a guideline for routine presymptomatic molecular diagnostics in a clinical laboratory.  (+info)

Hereditary desmoid disease in a family with a germline Alu I repeat mutation of the APC gene. (6/796)

Two families with autosomal dominantly inherited desmoid tumors have recently been shown to have germline mutations at the 3' end of the APC gene. We subsequently identified an Amish family with autosomal dominantly inherited desmoid tumors. Genetic analysis performed on one family member, a 47-year-old man with multiple desmoid tumors and no colon polyps, revealed a protein truncating mutation in the middle of the APC gene. The truncating mutation is the result of a 337-bp insertion of an Alu I sequence into codon 1526 of the APC gene. The presence of a poly(A) tail at the 3' end of the insertion suggests that the Alu I sequence was inserted by a retrotranspositional event. Germline insertions of Alu I sequences have occasionally been reported to cause other genetic diseases including type I neurofibromatosis, hereditary site-specific breast cancer (BRCA2), and hemophilia B. However, this is the first report of a germline mutation of the APC gene resulting from an Alu I insertion.  (+info)

Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis. (7/796)

BACKGROUND: Mutations of the APC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome. AIMS: To conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer. METHODS: All direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model. RESULTS: The baseline analysis predicted that screening a prototype FAP family would cost $4975/ pound3109 by molecular testing and $8031/ pound5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if the APC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/ pound4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives. CONCLUSIONS: In FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.  (+info)

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis. (8/796)

Inactivation of the adenomatous polyposis coli (APC) gene product initiates colorectal tumorigenesis. Patients with familial APC (FAP) carry germ-line mutations in the APC gene and develop multiple colorectal adenomas and subsequent carcinomas early in life. The severity of the disease correlates with the position of the inherited APC mutation (genotype-phenotype correlation). Together with the fact that both germ-line and sporadic APC mutations cluster in the central region of the APC gene, this points to a dominant negative effect of certain APC mutants. Loss of APC function was recently shown to result in enhanced beta-catenin-/Tcf-mediated transcription in colon epithelial cells. Here, we provide experimental evidence for a dominant negative effect of APC gene products associated with severe polyposis. Wild-type APC activity in beta-catenin-/Tcf-mediated transcription was strongly inhibited by a mutant APC that is truncated at codon 1309. In contrast, mutant APC gene products that are associated with attenuated polyposis (codon 386 or 1465) interfered only weakly with wild-type APC activity. These results suggest a molecular explanation for the genotype-phenotype correlation in FAP patients and support the idea that colorectal tumor growth might be, in part, driven by selection for a mutation in the mutation cluster region.  (+info)

Adenomatous Polyposis Coli (APC) is a genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum. APC is caused by mutations in the APC gene, which is a tumor suppressor gene that helps regulate cell growth and division. When the APC gene is mutated, it can lead to uncontrolled cell growth and the development of polyps, which can eventually become cancerous.

Individuals with APC typically develop hundreds to thousands of polyps in their colon and rectum, usually beginning in adolescence or early adulthood. If left untreated, APC can lead to colorectal cancer in nearly all affected individuals by the age of 40.

APC is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases of APC may also occur spontaneously due to new mutations in the APC gene. Treatment for APC typically involves surgical removal of the colon and rectum (colectomy) to prevent the development of colorectal cancer. Regular surveillance with colonoscopy is also recommended to monitor for the development of new polyps.

Adenomatous polyposis coli (APC) protein is a tumor suppressor protein that plays a crucial role in regulating cell growth and division. It is encoded by the APC gene, which is located on chromosome 5. The APC protein helps to prevent excessive cell growth and division by inhibiting the activity of a protein called beta-catenin, which promotes cell growth and division when activated.

In individuals with certain genetic disorders, such as familial adenomatous polyposis (FAP), mutations in the APC gene can lead to the production of a defective APC protein or no APC protein at all. This can result in uncontrolled cell growth and division, leading to the development of numerous benign tumors called polyps in the colon and rectum. Over time, some of these polyps may become cancerous, leading to colorectal cancer if left untreated.

APC protein also has other functions in the body, including regulating cell migration and adhesion, and playing a role in maintaining the stability of the cytoskeleton. Mutations in the APC gene have been linked to other types of cancer besides colorectal cancer, including breast, lung, and ovarian cancers.

APC (Adenomatous Polyposis Coli) gene is a tumor suppressor gene that provides instructions for making a protein called adenomatous polyposis coli. This protein plays a crucial role in regulating the growth and division of cells in the colon and rectum. Specifically, it helps to maintain the stability of the cell's genetic material (DNA) by controlling the process of beta-catenin degradation.

When the APC gene is mutated or altered, it can lead to an accumulation of beta-catenin in the cell, which can result in uncontrolled cell growth and division. This can ultimately lead to the development of colon polyps, which are benign growths that can become cancerous over time if left untreated.

Mutations in the APC gene are associated with several inherited cancer syndromes, including familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). These conditions are characterized by the development of numerous colon polyps at a young age, which can increase the risk of developing colorectal cancer.

Beta-catenin is a protein that plays a crucial role in gene transcription and cell-cell adhesion. It is a key component of the Wnt signaling pathway, which regulates various processes such as cell proliferation, differentiation, and migration during embryonic development and tissue homeostasis in adults.

In the absence of Wnt signals, beta-catenin forms a complex with other proteins, including adenomatous polyposis coli (APC) and axin, which targets it for degradation by the proteasome. When Wnt ligands bind to their receptors, this complex is disrupted, allowing beta-catenin to accumulate in the cytoplasm and translocate to the nucleus. In the nucleus, beta-catenin interacts with T cell factor/lymphoid enhancer-binding factor (TCF/LEF) transcription factors to activate the transcription of target genes involved in cell fate determination, survival, and proliferation.

Mutations in the genes encoding components of the Wnt signaling pathway, including beta-catenin, have been implicated in various human diseases, such as cancer, developmental disorders, and degenerative conditions.

Intestinal polyps are abnormal growths that protrude from the lining of the intestines. They can occur in any part of the digestive tract, including the colon and rectum (colorectal polyps), small intestine, or stomach. These growths vary in size, shape, and number. Most intestinal polyps are benign, meaning they are not cancerous. However, some types of polyps, such as adenomatous polyps, can become cancerous over time if left untreated.

Intestinal polyps can be asymptomatic or cause symptoms like rectal bleeding, abdominal pain, changes in bowel habits, or anemia (in cases where there is chronic, slow bleeding). The exact cause of intestinal polyps is not fully understood, but factors such as age, family history, and certain genetic conditions can increase the risk of developing them. Regular screening exams, like colonoscopies, are essential for early detection and removal of polyps to prevent potential complications, including colorectal cancer.

Cytoskeletal proteins are a type of structural proteins that form the cytoskeleton, which is the internal framework of cells. The cytoskeleton provides shape, support, and structure to the cell, and plays important roles in cell division, intracellular transport, and maintenance of cell shape and integrity.

There are three main types of cytoskeletal proteins: actin filaments, intermediate filaments, and microtubules. Actin filaments are thin, rod-like structures that are involved in muscle contraction, cell motility, and cell division. Intermediate filaments are thicker than actin filaments and provide structural support to the cell. Microtubules are hollow tubes that are involved in intracellular transport, cell division, and maintenance of cell shape.

Cytoskeletal proteins are composed of different subunits that polymerize to form filamentous structures. These proteins can be dynamically assembled and disassembled, allowing cells to change their shape and move. Mutations in cytoskeletal proteins have been linked to various human diseases, including cancer, neurological disorders, and muscular dystrophies.

Axin protein is a type of intracellular protein that plays a crucial role in regulating the Wnt signaling pathway, which is essential for various developmental processes and tissue homeostasis. Axin serves as a scaffold protein that facilitates the formation of a complex with other proteins involved in the degradation of β-catenin, a key component of the Wnt signalling cascade. By promoting the phosphorylation and subsequent degradation of β-catenin, Axin helps to maintain its levels in the cell and ensures proper regulation of gene transcription. Mutations in the AXIN gene can lead to abnormal Wnt signaling and have been associated with various diseases, including cancer.

Adenomatous polyps, also known as adenomas, are benign (noncancerous) growths that develop in the lining of the glandular tissue of certain organs, most commonly occurring in the colon and rectum. These polyps are composed of abnormal glandular cells that can grow excessively and form a mass.

Adenomatous polyps can vary in size, ranging from a few millimeters to several centimeters in diameter. They may be flat or have a stalk (pedunculated). While adenomas are generally benign, they can potentially undergo malignant transformation and develop into colorectal cancer over time if left untreated. The risk of malignancy increases with the size of the polyp and the presence of certain histological features, such as dysplasia (abnormal cell growth).

Regular screening for adenomatous polyps is essential to detect and remove them early, reducing the risk of colorectal cancer. Screening methods include colonoscopy, sigmoidoscopy, and stool-based tests.

Intestinal polyposis is a condition characterized by the presence of multiple polyps in the inner lining (mucosa) of the intestines. These polyps are abnormal growths that protrude from the intestinal wall and can vary in size, number, and type. Some common types of polyps include adenomatous, hyperplastic, and inflammatory polyps.

Intestinal polyposis can occur throughout the gastrointestinal tract, including the stomach, small intestine, and large intestine (colon). The condition can be inherited or acquired, and it is often associated with various genetic syndromes such as familial adenomatous polyposis (FAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Lynch syndrome.

Depending on the type, size, and number of polyps, intestinal polyposis can increase the risk of developing colorectal cancer and other gastrointestinal malignancies. Regular surveillance, monitoring, and removal of polyps are essential for managing this condition and preventing complications.

Aggressive fibromatosis, also known as Desmoid tumor or Desmoid-type fibromatosis, is a rare, non-cancerous (benign) connective tissue neoplasm. It is characterized by the proliferation of fibroblasts and excessive deposition of collagen in the affected area.

Aggressive fibromatosis typically involves the deep soft tissues such as muscle, fascia, or aponeurosis. The tumor can grow aggressively, invading surrounding tissues but rarely metastasizing to distant organs. It can cause significant morbidity due to local invasion and destruction of adjacent structures.

The exact cause of aggressive fibromatosis is unknown, although it has been associated with genetic mutations in the beta-catenin gene (CTNNB1) or familial adenomatous polyposis (FAP). Treatment options for aggressive fibromatosis include surgical resection, radiation therapy, medical management with nonsteroidal anti-inflammatory drugs (NSAIDs), and targeted therapies such as tyrosine kinase inhibitors. The choice of treatment depends on the location, size, growth rate, and symptoms associated with the tumor.

An adenoma is a benign (noncancerous) tumor that develops from glandular epithelial cells. These types of cells are responsible for producing and releasing fluids, such as hormones or digestive enzymes, into the surrounding tissues. Adenomas can occur in various organs and glands throughout the body, including the thyroid, pituitary, adrenal, and digestive systems.

Depending on their location, adenomas may cause different symptoms or remain asymptomatic. Some common examples of adenomas include:

1. Colorectal adenoma (also known as a polyp): These growths occur in the lining of the colon or rectum and can develop into colorectal cancer if left untreated. Regular screenings, such as colonoscopies, are essential for early detection and removal of these polyps.
2. Thyroid adenoma: This type of adenoma affects the thyroid gland and may result in an overproduction or underproduction of hormones, leading to conditions like hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid).
3. Pituitary adenoma: These growths occur in the pituitary gland, which is located at the base of the brain and controls various hormonal functions. Depending on their size and location, pituitary adenomas can cause vision problems, headaches, or hormonal imbalances that affect growth, reproduction, and metabolism.
4. Liver adenoma: These rare benign tumors develop in the liver and may not cause any symptoms unless they become large enough to press on surrounding organs or structures. In some cases, liver adenomas can rupture and cause internal bleeding.
5. Adrenal adenoma: These growths occur in the adrenal glands, which are located above the kidneys and produce hormones that regulate stress responses, metabolism, and blood pressure. Most adrenal adenomas are nonfunctioning, meaning they do not secrete excess hormones. However, functioning adrenal adenomas can lead to conditions like Cushing's syndrome or Conn's syndrome, depending on the type of hormone being overproduced.

It is essential to monitor and manage benign tumors like adenomas to prevent potential complications, such as rupture, bleeding, or hormonal imbalances. Treatment options may include surveillance with imaging studies, medication to manage hormonal issues, or surgical removal of the tumor in certain cases.

Intestinal neoplasms refer to abnormal growths in the tissues of the intestines, which can be benign or malignant. These growths are called neoplasms and they result from uncontrolled cell division. In the case of intestinal neoplasms, these growths occur in the small intestine, large intestine (colon), rectum, or appendix.

Benign intestinal neoplasms are not cancerous and often do not invade surrounding tissues or spread to other parts of the body. However, they can still cause problems if they grow large enough to obstruct the intestines or cause bleeding. Common types of benign intestinal neoplasms include polyps, leiomyomas, and lipomas.

Malignant intestinal neoplasms, on the other hand, are cancerous and can invade surrounding tissues and spread to other parts of the body. The most common type of malignant intestinal neoplasm is adenocarcinoma, which arises from the glandular cells lining the inside of the intestines. Other types of malignant intestinal neoplasms include lymphomas, sarcomas, and carcinoid tumors.

Symptoms of intestinal neoplasms can vary depending on their size, location, and type. Common symptoms include abdominal pain, bloating, changes in bowel habits, rectal bleeding, weight loss, and fatigue. If you experience any of these symptoms, it is important to seek medical attention promptly.

Colorectal neoplasms refer to abnormal growths in the colon or rectum, which can be benign or malignant. These growths can arise from the inner lining (mucosa) of the colon or rectum and can take various forms such as polyps, adenomas, or carcinomas.

Benign neoplasms, such as hyperplastic polyps and inflammatory polyps, are not cancerous but may need to be removed to prevent the development of malignant tumors. Adenomas, on the other hand, are precancerous lesions that can develop into colorectal cancer if left untreated.

Colorectal cancer is a malignant neoplasm that arises from the uncontrolled growth and division of cells in the colon or rectum. It is one of the most common types of cancer worldwide and can spread to other parts of the body through the bloodstream or lymphatic system.

Regular screening for colorectal neoplasms is recommended for individuals over the age of 50, as early detection and removal of precancerous lesions can significantly reduce the risk of developing colorectal cancer.

Gardner Syndrome is a rare inherited condition associated with a mutation in the APC gene, which also causes Familial Adenomatous Polyposis (FAP). This syndrome is characterized by the development of multiple benign tumors called adenomas in the colon and rectum. Additionally, individuals with Gardner Syndrome often develop various types of non-cancerous growths outside the gastrointestinal tract, such as osteomas (benign bone tumors), dental abnormalities, and epidermoid cysts on the skin.

Individuals with this syndrome have an increased risk of developing colorectal cancer at a young age, typically before 40 years old, if not monitored and treated appropriately. Other cancers that may develop in association with Gardner Syndrome include duodenal cancer, thyroid cancer, brain tumors (particularly cerebellar medulloblastomas), and adrenal gland tumors.

Regular surveillance through colonoscopies and other diagnostic tests is crucial for early detection and management of potential malignancies in individuals with Gardner Syndrome.

Colonic neoplasms refer to abnormal growths in the large intestine, also known as the colon. These growths can be benign (non-cancerous) or malignant (cancerous). The two most common types of colonic neoplasms are adenomas and carcinomas.

Adenomas are benign tumors that can develop into cancer over time if left untreated. They are often found during routine colonoscopies and can be removed during the procedure.

Carcinomas, on the other hand, are malignant tumors that invade surrounding tissues and can spread to other parts of the body. Colorectal cancer is the third leading cause of cancer-related deaths in the United States, and colonic neoplasms are a significant risk factor for developing this type of cancer.

Regular screenings for colonic neoplasms are recommended for individuals over the age of 50 or those with a family history of colorectal cancer or other risk factors. Early detection and removal of colonic neoplasms can significantly reduce the risk of developing colorectal cancer.

A polyp is a general term for a small growth that protrudes from a mucous membrane, such as the lining of the nose or the digestive tract. Polyps can vary in size and shape, but they are usually cherry-sized or smaller and have a stalk or a broad base. They are often benign (noncancerous), but some types of polyps, especially those in the colon, can become cancerous over time.

In the digestive tract, polyps can form in the colon, rectum, stomach, or small intestine. Colorectal polyps are the most common type and are usually found during routine colonoscopies. There are several types of colorectal polyps, including:

* Adenomatous polyps (adenomas): These polyps can become cancerous over time and are the most likely to turn into cancer.
* Hyperplastic polyps: These polyps are usually small and benign, but some types may have a higher risk of becoming cancerous.
* Inflammatory polyps: These polyps are caused by chronic inflammation in the digestive tract, such as from inflammatory bowel disease (IBD).

Polyps can also form in other parts of the body, including the nose, sinuses, ears, and uterus. In most cases, polyps are benign and do not cause any symptoms. However, if they become large enough, they may cause problems such as bleeding, obstruction, or discomfort. Treatment typically involves removing the polyp through a surgical procedure.

Trans-activators are proteins that increase the transcriptional activity of a gene or a set of genes. They do this by binding to specific DNA sequences and interacting with the transcription machinery, thereby enhancing the recruitment and assembly of the complexes needed for transcription. In some cases, trans-activators can also modulate the chromatin structure to make the template more accessible to the transcription machinery.

In the context of HIV (Human Immunodeficiency Virus) infection, the term "trans-activator" is often used specifically to refer to the Tat protein. The Tat protein is a viral regulatory protein that plays a critical role in the replication of HIV by activating the transcription of the viral genome. It does this by binding to a specific RNA structure called the Trans-Activation Response Element (TAR) located at the 5' end of all nascent HIV transcripts, and recruiting cellular cofactors that enhance the processivity and efficiency of RNA polymerase II, leading to increased viral gene expression.

Wnt proteins are a family of secreted signaling molecules that play crucial roles in the regulation of fundamental biological processes, including cell proliferation, differentiation, migration, and survival. They were first discovered in 1982 through genetic studies in Drosophila melanogaster (fruit flies) and have since been found to be highly conserved across various species, from invertebrates to humans.

Wnt proteins exert their effects by binding to specific receptors on the target cell surface, leading to the activation of several intracellular signaling pathways:

1. Canonical Wnt/β-catenin pathway: In the absence of Wnt ligands, β-catenin is continuously degraded by a destruction complex consisting of Axin, APC (Adenomatous polyposis coli), and GSK3β (Glycogen synthase kinase 3 beta). When Wnt proteins bind to their receptors Frizzled and LRP5/6, the formation of a "signalosome" complex leads to the inhibition of the destruction complex, allowing β-catenin to accumulate in the cytoplasm and translocate into the nucleus. Here, it interacts with TCF/LEF (T-cell factor/lymphoid enhancer-binding factor) transcription factors to regulate the expression of target genes involved in cell proliferation, differentiation, and survival.
2. Non-canonical Wnt pathways: These include the Wnt/Ca^2+^ pathway and the planar cell polarity (PCP) pathway. In the Wnt/Ca^2+^ pathway, Wnt ligands bind to Frizzled receptors and activate heterotrimeric G proteins, leading to an increase in intracellular Ca^2+^ levels and activation of downstream targets such as protein kinase C (PKC) and calcium/calmodulin-dependent protein kinase II (CAMKII). These signaling events ultimately regulate cell movement, adhesion, and gene expression. In the PCP pathway, Wnt ligands bind to Frizzled receptors and coreceptor complexes containing Ror2 or Ryk, leading to activation of small GTPases such as RhoA and Rac1, which control cytoskeletal organization and cell polarity.

Dysregulation of Wnt signaling has been implicated in various human diseases, including cancer, developmental disorders, and degenerative conditions. In cancer, aberrant activation of the canonical Wnt/β-catenin pathway contributes to tumor initiation, progression, and metastasis by promoting cell proliferation, survival, and epithelial-mesenchymal transition (EMT). Inhibitors targeting different components of the Wnt signaling pathway are currently being developed as potential therapeutic strategies for cancer treatment.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Abdominal fibromatosis, also known as aggressive abdominal wall fibromatosis or desmoid tumors, are rare, non-cancerous (benign) growths that originate from the connective tissue in the abdominal wall. These tumors can be invasive and grow into surrounding tissues, causing discomfort, pain, or complications such as bowel obstruction. They can occur spontaneously or following surgical trauma, pregnancy, or familial adenomatous polyposis (FAP), a genetic disorder that increases the risk of colorectal cancer. Treatment options include surgery, radiation therapy, and medical management with anti-inflammatory drugs or chemotherapeutic agents. Regular follow-up is necessary due to the possibility of recurrence.

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

Duodenal neoplasms refer to abnormal growths in the duodenum, which is the first part of the small intestine that receives digestive secretions from the pancreas and bile duct. These growths can be benign or malignant (cancerous).

Benign neoplasms include adenomas, leiomyomas, lipomas, and hamartomas. They are usually slow-growing and do not spread to other parts of the body. However, they may cause symptoms such as abdominal pain, bleeding, or obstruction of the intestine.

Malignant neoplasms include adenocarcinomas, neuroendocrine tumors (carcinoids), lymphomas, and sarcomas. They are more aggressive and can invade surrounding tissues and spread to other parts of the body. Symptoms may include abdominal pain, weight loss, jaundice, anemia, or bowel obstruction.

The diagnosis of duodenal neoplasms is usually made through imaging tests such as CT scans, MRI, or endoscopy with biopsy. Treatment depends on the type and stage of the tumor and may include surgery, chemotherapy, radiation therapy, or a combination of these modalities.

Colonic polyps are abnormal growths that protrude from the inner wall of the colon (large intestine). They can vary in size, shape, and number. Most colonic polyps are benign, meaning they are not cancerous. However, some types of polyps, such as adenomas, have a higher risk of becoming cancerous over time if left untreated.

Colonic polyps often do not cause any symptoms, especially if they are small. Larger polyps may lead to symptoms like rectal bleeding, changes in bowel habits, abdominal pain, or iron deficiency anemia. The exact cause of colonic polyps is not known, but factors such as age, family history, and certain medical conditions (like inflammatory bowel disease) can increase the risk of developing them.

Regular screening exams, such as colonoscopies, are recommended for individuals over the age of 50 to detect and remove polyps before they become cancerous. If you have a family history of colonic polyps or colorectal cancer, your doctor may recommend earlier or more frequent screenings.

TCF (T-cell factor) transcription factors are a family of proteins that play a crucial role in the Wnt signaling pathway, which is involved in various biological processes such as cell proliferation, differentiation, and migration. TCF transcription factors bind to specific DNA sequences in the promoter region of target genes and regulate their transcription.

In the absence of Wnt signaling, TCF proteins form a complex with transcriptional repressors, which inhibits gene transcription. When Wnt ligands bind to their receptors, they initiate a cascade of intracellular signals that result in the accumulation and nuclear localization of β-catenin, a key player in the Wnt signaling pathway.

In the nucleus, β-catenin interacts with TCF proteins, displacing the transcriptional repressors and converting TCF into an activator of gene transcription. This leads to the expression of target genes that are involved in various cellular processes, including cell cycle regulation, stem cell maintenance, and tumorigenesis.

Mutations in TCF transcription factors or components of the Wnt signaling pathway have been implicated in several human diseases, including cancer, developmental disorders, and degenerative diseases.

Sulindac is a non-steroidal anti-inflammatory drug (NSAID) that is used to treat pain, inflammation, and fever. It works by inhibiting the activity of cyclooxygenase (COX) enzymes, which are involved in the production of prostaglandins, chemicals that contribute to inflammation and pain.

Sulindac is a prodrug, meaning that it is converted into its active form, sulindac sulfide, in the body. Sulindac sulfide has both analgesic (pain-relieving) and anti-inflammatory effects, making it useful for treating conditions such as osteoarthritis, rheumatoid arthritis, and ankylosing spondylitis.

Like other NSAIDs, sulindac can cause side effects such as stomach ulcers, bleeding, and kidney damage, especially when taken at high doses or for long periods of time. It should be used with caution in people with a history of gastrointestinal (GI) problems, kidney disease, or liver disease.

It is important to note that this information is intended to supplement, not substitute for, the expertise and judgment of healthcare professionals. It is always recommended to consult with a doctor or pharmacist for medical advice.

Restorative proctocolectomy, also known as ileal pouch-anal anastomosis (IPAA), is a surgical procedure used to treat ulcerative colitis and familial adenomatous polyposis. This procedure involves the removal of the colon, rectum, and anal canal while preserving the sphincter muscles that control fecal continence.

After removing the diseased tissues, the surgeon creates a pouch from the end of the small intestine (ileum) and attaches it to the anus, restoring the continuity of the gastrointestinal tract. The pouch serves as a reservoir for stool, allowing for more normal bowel movements compared to having a permanent ileostomy.

Restorative proctocolectomy can be performed in one or two stages, depending on the patient's condition and the surgeon's preference. In the two-stage procedure, an initial total colectomy with ileostomy is performed, followed by the creation of the pouch and closure of the ileostomy in a second operation. The single-stage procedure involves removing the colon, creating the pouch, and performing the anastomosis in one surgical setting.

While restorative proctocolectomy significantly improves quality of life for many patients with ulcerative colitis and familial adenomatous polyposis, potential complications include pouchitis (inflammation of the ileal pouch), anastomotic leakage, small bowel obstruction, and pelvic sepsis. Regular follow-up care is essential to monitor for these and other potential issues.

Armadillo (ARM) domain proteins are a family of conserved cytoskeletal proteins characterized by the presence of armadillo repeats, which are structural motifs involved in protein-protein interactions. These proteins play crucial roles in various cellular processes such as signal transduction, cell adhesion, and intracellular transport.

The ARM domain is composed of multiple tandem repeats (usually 4 to 12) of approximately 40-42 amino acid residues. Each repeat forms a pair of antiparallel alpha-helices that stack together to create a superhelix structure, which provides a binding surface for various partner proteins.

Examples of ARM domain proteins include:

1. β-catenin and plakoglobin (also known as γ-catenin): These proteins are essential components of the Wnt signaling pathway, where they interact with transcription factors to regulate gene expression. They also play a role in cell adhesion by binding to cadherins at the plasma membrane.
2. Paxillin: A focal adhesion protein that interacts with various structural and signaling molecules, including integrins, growth factor receptors, and kinases, to regulate cell migration and adhesion.
3. Importin-α: A nuclear transport receptor that recognizes and binds to cargo proteins containing a nuclear localization signal (NLS), facilitating their import into the nucleus through interaction with importin-β and the nuclear pore complex.
4. DEC1 (also known as STRA13): A transcriptional repressor involved in cell differentiation, apoptosis, and circadian rhythm regulation.
5. HEF1/NEDD9: A scaffolding protein that interacts with various signaling molecules to regulate cell migration, adhesion, and survival.
6. p120-catenin: A member of the catenin family that regulates cadherin stability and function in cell adhesion.

These proteins have been implicated in several human diseases, including cancer, cardiovascular disease, and neurological disorders.

Glycogen Synthase Kinase 3 (GSK-3) is a serine/threonine protein kinase that plays a crucial role in the regulation of several cellular processes, including glycogen metabolism, cell signaling, gene transcription, and apoptosis. It was initially discovered as a key enzyme involved in glycogen metabolism due to its ability to phosphorylate and inhibit glycogen synthase, an enzyme responsible for the synthesis of glycogen from glucose.

GSK-3 exists in two isoforms, GSK-3α and GSK-3β, which share a high degree of sequence similarity and are widely expressed in various tissues. Both isoforms are constitutively active under normal conditions and are regulated through inhibitory phosphorylation by several upstream signaling pathways, such as insulin, Wnt, and Hedgehog signaling.

Dysregulation of GSK-3 has been implicated in the pathogenesis of various diseases, including diabetes, neurodegenerative disorders, and cancer. In recent years, GSK-3 has emerged as an attractive therapeutic target for the development of novel drugs to treat these conditions.

Transcription Factor 7-Like 2 Protein (TF7L2) is a transcription factor that plays a crucial role in the Wnt signaling pathway, which is essential for cell differentiation, proliferation, and apoptosis. It is primarily expressed in the pancreas, brain, and muscle tissues.

TF7L2 is involved in the regulation of gene expression, particularly those related to insulin synthesis and secretion in the pancreatic beta-cells. Variations in the TF7L2 gene have been associated with an increased risk of developing type 2 diabetes, as they can affect insulin sensitivity and glucose metabolism.

Mutations in the TF7L2 gene may lead to abnormal regulation of genes involved in glucose homeostasis, which can contribute to impaired insulin secretion and the development of type 2 diabetes. However, the exact mechanisms by which TF7L2 variants increase the risk of type 2 diabetes are not fully understood and are an area of ongoing research.

The Axin signaling complex is a key component of the Wnt/β-catenin signaling pathway, which plays crucial roles in various biological processes such as cell proliferation, differentiation, and migration. The complex consists of several proteins including Axin, APC (Adenomatous polyposis coli), GSK-3β (Glycogen synthase kinase-3 beta), and CK1 (Casein kinase 1).

In the absence of Wnt ligands, β-catenin is constantly phosphorylated by GSK-3β and CK1 within the Axin complex, leading to its ubiquitination and subsequent degradation in the proteasome. This maintains low levels of cytoplasmic β-catenin and prevents the activation of Wnt target genes.

Upon Wnt ligand binding to Frizzled receptors and LRP coreceptors, Dishevelled is recruited and inhibits GSK-3β activity in the Axin complex. This results in stabilization of β-catenin, allowing it to translocate into the nucleus, bind to TCF/LEF transcription factors, and activate Wnt target gene expression.

Dysregulation of the Axin signaling complex has been implicated in various diseases, including cancer and developmental disorders.

Lymphoid Enhancer-Binding Factor 1 (LEF1) is a protein that functions as a transcription factor, playing a crucial role in the Wnt signaling pathway. It is involved in the regulation of gene expression, particularly during embryonic development and immune system function. LEF1 helps control the differentiation and proliferation of certain cells, including B and T lymphocytes, which are essential for adaptive immunity. Mutations in the LEF1 gene have been associated with various human diseases, such as cancer and immunodeficiency disorders.

Colonic pouches, also known as pouch colon or reservoir, refer to an artificial structure created during a surgical procedure called restorative proctocolectomy. This is often performed in patients with certain types of inflammatory bowel disease like ulcerative colitis or familial adenomatous polyposis.

During the surgery, the entire colon and rectum are removed. A pouch is then created using the patient's own small intestine, which is folded back on itself and sewn together to form a reservoir. This pouch is connected to the anus, allowing the patient to have relatively normal bowel movements.

The most common type of colonic pouch is the J-pouch, so named because of its J-shaped design. Other types include the S-pouch and the W-pouch. The choice of pouch depends on various factors, including the patient's anatomy and the surgeon's preference.

The purpose of creating a colonic pouch is to restore intestinal continuity and function after removing the diseased colon and rectum, thereby improving the patient's quality of life. However, it's important to note that living with a colonic pouch also requires significant lifestyle adjustments and ongoing medical management.

Glycogen synthase kinases (GSKs) are a family of enzymes that play a crucial role in the regulation of glycogen metabolism. Glycogen is a complex carbohydrate that serves as a primary energy storage form in animals, fungi, and bacteria.

GSKs function as serine/threonine protein kinases, which means they add phosphate groups to specific serine or threonine residues on their target proteins. In the case of glycogen synthase kinases, their primary target is glycogen synthase, an enzyme responsible for synthesizing glycogen from glucose-1-phosphate during the process of glycogenesis (glycogen synthesis).

There are several isoforms of GSKs identified in humans, including GSK3α and GSK3β. These kinases are involved in various cellular processes, such as:

1. Regulation of glycogen metabolism: By phosphorylating and inhibiting glycogen synthase, GSKs help control the balance between glycogen storage and glucose utilization.
2. Cell signaling pathways: GSKs participate in several intracellular signaling cascades, including the Wnt signaling pathway, insulin signaling pathway, and the PI3K/AKT pathway, which regulate various cellular functions such as proliferation, differentiation, survival, and metabolism.
3. Regulation of gene expression: GSKs can modulate transcription factors' activity, thereby influencing gene expression and contributing to various cellular responses.
4. Neuronal function: In the brain, GSKs are involved in regulating synaptic plasticity, learning, and memory processes.
5. Disease pathogenesis: Dysregulation of GSKs has been implicated in several diseases, such as diabetes, neurodegenerative disorders (e.g., Alzheimer's disease), and cancer.

In summary, glycogen synthase kinases are a family of protein kinases that regulate glycogen metabolism and participate in various cell signaling pathways, influencing numerous cellular functions and being implicated in several diseases.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

The Wnt signaling pathway is a complex cell communication system that plays a critical role in embryonic development, tissue regeneration, and cancer. It is named after the Wingless (Wg) gene in Drosophila melanogaster and the Int-1 gene in mice, both of which were found to be involved in this pathway.

In essence, the Wnt signaling pathway involves the binding of Wnt proteins to Frizzled receptors on the cell surface, leading to the activation of intracellular signaling cascades. There are three main branches of the Wnt signaling pathway: the canonical (or Wnt/β-catenin) pathway, the noncanonical planar cell polarity (PCP) pathway, and the noncanonical Wnt/calcium pathway.

The canonical Wnt/β-catenin pathway is the most well-studied branch. In the absence of Wnt signaling, cytoplasmic β-catenin is constantly phosphorylated by a destruction complex consisting of Axin, APC, GSK3β, and CK1, leading to its ubiquitination and degradation in the proteasome. When Wnt ligands bind to Frizzled receptors and their coreceptor LRP5/6, Dishevelled is recruited and inhibits the destruction complex, allowing β-catenin to accumulate in the cytoplasm and translocate into the nucleus. In the nucleus, β-catenin interacts with TCF/LEF transcription factors to regulate the expression of target genes involved in cell proliferation, differentiation, and survival.

Dysregulation of the Wnt signaling pathway has been implicated in various human diseases, including cancer, developmental disorders, and degenerative conditions. For example, mutations in components of the canonical Wnt/β-catenin pathway can lead to the accumulation of β-catenin and subsequent activation of oncogenic target genes, contributing to tumorigenesis in various types of cancer.

The colon, also known as the large intestine, is a part of the digestive system in humans and other vertebrates. It is an organ that eliminates waste from the body and is located between the small intestine and the rectum. The main function of the colon is to absorb water and electrolytes from digested food, forming and storing feces until they are eliminated through the anus.

The colon is divided into several regions, including the cecum, ascending colon, transverse colon, descending colon, sigmoid colon, rectum, and anus. The walls of the colon contain a layer of muscle that helps to move waste material through the organ by a process called peristalsis.

The inner surface of the colon is lined with mucous membrane, which secretes mucus to lubricate the passage of feces. The colon also contains a large population of bacteria, known as the gut microbiota, which play an important role in digestion and immunity.

'Escherichia coli (E. coli) proteins' refer to the various types of proteins that are produced and expressed by the bacterium Escherichia coli. These proteins play a critical role in the growth, development, and survival of the organism. They are involved in various cellular processes such as metabolism, DNA replication, transcription, translation, repair, and regulation.

E. coli is a gram-negative, facultative anaerobe that is commonly found in the intestines of warm-blooded organisms. It is widely used as a model organism in scientific research due to its well-studied genetics, rapid growth, and ability to be easily manipulated in the laboratory. As a result, many E. coli proteins have been identified, characterized, and studied in great detail.

Some examples of E. coli proteins include enzymes involved in carbohydrate metabolism such as lactase, sucrase, and maltose; proteins involved in DNA replication such as the polymerases, single-stranded binding proteins, and helicases; proteins involved in transcription such as RNA polymerase and sigma factors; proteins involved in translation such as ribosomal proteins, tRNAs, and aminoacyl-tRNA synthetases; and regulatory proteins such as global regulators, two-component systems, and transcription factors.

Understanding the structure, function, and regulation of E. coli proteins is essential for understanding the basic biology of this important organism, as well as for developing new strategies for combating bacterial infections and improving industrial processes involving bacteria.

APC1 (Anaphase-Promoting Complex-Cyclosome) subunit is a component of the multi-subunit E3 ubiquitin ligase complex known as the Anaphase-Promoting Complex/Cyclosome (APC/C). The APC/C plays a crucial role in regulating the cell cycle, specifically during mitosis and meiosis.

The APC/C is responsible for targeting specific proteins for degradation by the ubiquitin-proteasome system. This degradation leads to the regulation of various cell cycle events, such as sister chromatid separation during anaphase and the exit from mitosis.

APC1 is one of the several subunits that make up the APC/C complex. It serves as a scaffold protein, helping to assemble and maintain the structural integrity of the complex. Additionally, APC1 has been shown to play a role in substrate recognition by the APC/C, contributing to the specificity of ubiquitination and subsequent degradation of target proteins.

The medical relevance of understanding the APC/C and its subunits, including APC1, lies in their essential roles in cell cycle regulation. Dysregulation of these processes can lead to various diseases, such as cancer, where uncontrolled cell division is a hallmark feature. Studying the APC/C and its components may provide insights into potential therapeutic targets for treating such conditions.

The intestinal mucosa is the innermost layer of the intestines, which comes into direct contact with digested food and microbes. It is a specialized epithelial tissue that plays crucial roles in nutrient absorption, barrier function, and immune defense. The intestinal mucosa is composed of several cell types, including absorptive enterocytes, mucus-secreting goblet cells, hormone-producing enteroendocrine cells, and immune cells such as lymphocytes and macrophages.

The surface of the intestinal mucosa is covered by a single layer of epithelial cells, which are joined together by tight junctions to form a protective barrier against harmful substances and microorganisms. This barrier also allows for the selective absorption of nutrients into the bloodstream. The intestinal mucosa also contains numerous lymphoid follicles, known as Peyer's patches, which are involved in immune surveillance and defense against pathogens.

In addition to its role in absorption and immunity, the intestinal mucosa is also capable of producing hormones that regulate digestion and metabolism. Dysfunction of the intestinal mucosa can lead to various gastrointestinal disorders, such as inflammatory bowel disease, celiac disease, and food allergies.

Loss of Heterozygosity (LOH) is a term used in genetics to describe the loss of one copy of a gene or a segment of a chromosome, where there was previously a pair of different genes or chromosomal segments (heterozygous). This can occur due to various genetic events such as mutation, deletion, or mitotic recombination.

LOH is often associated with the development of cancer, as it can lead to the loss of tumor suppressor genes, which normally help to regulate cell growth and division. When both copies of a tumor suppressor gene are lost or inactivated, it can result in uncontrolled cell growth and the formation of a tumor.

In medical terms, LOH is used as a biomarker for cancer susceptibility, progression, and prognosis. It can also be used to identify individuals who may be at increased risk for certain types of cancer, or to monitor patients for signs of cancer recurrence.

Microtubules are hollow, cylindrical structures composed of tubulin proteins in the cytoskeleton of eukaryotic cells. They play crucial roles in various cellular processes such as maintaining cell shape, intracellular transport, and cell division (mitosis and meiosis). Microtubules are dynamic, undergoing continuous assembly and disassembly, which allows them to rapidly reorganize in response to cellular needs. They also form part of important cellular structures like centrioles, basal bodies, and cilia/flagella.

Cadherins are a type of cell adhesion molecule that play a crucial role in the development and maintenance of intercellular junctions. They are transmembrane proteins that mediate calcium-dependent homophilic binding between adjacent cells, meaning that they bind to identical cadherin molecules on neighboring cells.

There are several types of cadherins, including classical cadherins, desmosomal cadherins, and protocadherins, each with distinct functions and localization in tissues. Classical cadherins, also known as type I cadherins, are the most well-studied and are essential for the formation of adherens junctions, which help to maintain cell-to-cell contact and tissue architecture.

Desmosomal cadherins, on the other hand, are critical for the formation and maintenance of desmosomes, which are specialized intercellular junctions that provide mechanical strength and stability to tissues. Protocadherins are a diverse family of cadherin-related proteins that have been implicated in various developmental processes, including neuronal connectivity and tissue patterning.

Mutations in cadherin genes have been associated with several human diseases, including cancer, neurological disorders, and heart defects. Therefore, understanding the structure, function, and regulation of cadherins is essential for elucidating their roles in health and disease.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

A colectomy is a surgical procedure in which all or part of the large intestine (colon) is removed. This surgery may be performed to treat or prevent various medical conditions, including colon cancer, inflammatory bowel disease, diverticulitis, and severe obstructions or injuries of the colon.

There are several types of colectomies, depending on how much of the colon is removed:

* Total colectomy: Removal of the entire colon.
* Partial colectomy: Removal of a portion of the colon.
* Hemicolectomy: Removal of one half of the colon.
* Sigmoidectomy: Removal of the sigmoid colon, which is the part of the colon that is closest to the rectum.

After the affected portion of the colon is removed, the remaining ends of the intestine are reconnected, allowing stool to pass through the digestive system as usual. In some cases, a temporary or permanent colostomy may be necessary, in which a surgical opening (stoma) is created in the abdominal wall and the end of the colon is attached to it, allowing stool to be collected in a pouch outside the body.

Colectomies are major surgeries that require general anesthesia and hospitalization. The recovery time can vary depending on the type of colectomy performed and the individual's overall health, but typically ranges from several weeks to a few months. Complications of colectomy may include bleeding, infection, leakage from the surgical site, bowel obstruction, and changes in bowel habits or function.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Osteoma is a benign (noncancerous) tumor that is made up of mature bone tissue. It usually grows slowly over a period of years and is most commonly found in the skull or jaw, although it can occur in other bones of the body as well. Osteomas are typically small, but they can grow to be several centimeters in size. They may cause symptoms if they press on nearby tissues or structures, such as nerves or blood vessels. In some cases, osteomas may not cause any symptoms and may only be discovered during routine imaging studies. Treatment for osteoma is typically not necessary unless it is causing problems or growing rapidly. If treatment is needed, it may involve surgical removal of the tumor.

'Escherichia coli' (E. coli) is a type of gram-negative, facultatively anaerobic, rod-shaped bacterium that commonly inhabits the intestinal tract of humans and warm-blooded animals. It is a member of the family Enterobacteriaceae and one of the most well-studied prokaryotic model organisms in molecular biology.

While most E. coli strains are harmless and even beneficial to their hosts, some serotypes can cause various forms of gastrointestinal and extraintestinal illnesses in humans and animals. These pathogenic strains possess virulence factors that enable them to colonize and damage host tissues, leading to diseases such as diarrhea, urinary tract infections, pneumonia, and sepsis.

E. coli is a versatile organism with remarkable genetic diversity, which allows it to adapt to various environmental niches. It can be found in water, soil, food, and various man-made environments, making it an essential indicator of fecal contamination and a common cause of foodborne illnesses. The study of E. coli has contributed significantly to our understanding of fundamental biological processes, including DNA replication, gene regulation, and protein synthesis.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Zebrafish proteins refer to the diverse range of protein molecules that are produced by the organism Danio rerio, commonly known as the zebrafish. These proteins play crucial roles in various biological processes such as growth, development, reproduction, and response to environmental stimuli. They are involved in cellular functions like enzymatic reactions, signal transduction, structural support, and regulation of gene expression.

Zebrafish is a popular model organism in biomedical research due to its genetic similarity with humans, rapid development, and transparent embryos that allow for easy observation of biological processes. As a result, the study of zebrafish proteins has contributed significantly to our understanding of protein function, structure, and interaction in both zebrafish and human systems.

Some examples of zebrafish proteins include:

* Transcription factors that regulate gene expression during development
* Enzymes involved in metabolic pathways
* Structural proteins that provide support to cells and tissues
* Receptors and signaling molecules that mediate communication between cells
* Heat shock proteins that assist in protein folding and protect against stress

The analysis of zebrafish proteins can be performed using various techniques, including biochemical assays, mass spectrometry, protein crystallography, and computational modeling. These methods help researchers to identify, characterize, and understand the functions of individual proteins and their interactions within complex networks.

Adenocarcinoma is a type of cancer that arises from glandular epithelial cells. These cells line the inside of many internal organs, including the breasts, prostate, colon, and lungs. Adenocarcinomas can occur in any of these organs, as well as in other locations where glands are present.

The term "adenocarcinoma" is used to describe a cancer that has features of glandular tissue, such as mucus-secreting cells or cells that produce hormones. These cancers often form glandular structures within the tumor mass and may produce mucus or other substances.

Adenocarcinomas are typically slow-growing and tend to spread (metastasize) to other parts of the body through the lymphatic system or bloodstream. They can be treated with surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these treatments. The prognosis for adenocarcinoma depends on several factors, including the location and stage of the cancer, as well as the patient's overall health and age.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

In human genetics, "MCC" usually stands for "Minimal Critical Component." A minimal critical component or region is the smallest genetic region that is necessary and sufficient to cause a particular genetic disorder or disease. This region typically contains one or more genes (known as disease-causing genes) that are mutated or altered in individuals affected by the disorder. Identifying the MCC and the specific genes within it can provide valuable insights into the genetic basis of a disorder, help with diagnostic testing, and guide potential treatment strategies.

Duodenoscopy is a medical procedure that involves the insertion of a duodenoscope, which is a flexible, lighted tube with a camera and tiny tools on the end, through the mouth and down the throat to examine the upper part of the small intestine (duodenum) and the opening of the bile and pancreatic ducts.

During the procedure, the doctor can take tissue samples for biopsy, remove polyps or other abnormal growths, or perform other interventions as needed. Duodenoscopy is commonly used to diagnose and treat conditions such as gastrointestinal bleeding, inflammation, infection, and cancer.

It's important to note that duodenoscopes have been associated with the spread of antibiotic-resistant bacteria in some cases, so healthcare providers must follow strict cleaning and disinfection protocols to minimize this risk.

Escherichia coli (E. coli) infections refer to illnesses caused by the bacterium E. coli, which can cause a range of symptoms depending on the specific strain and site of infection. The majority of E. coli strains are harmless and live in the intestines of healthy humans and animals. However, some strains, particularly those that produce Shiga toxins, can cause severe illness.

E. coli infections can occur through various routes, including contaminated food or water, person-to-person contact, or direct contact with animals or their environments. Common symptoms of E. coli infections include diarrhea (often bloody), abdominal cramps, nausea, and vomiting. In severe cases, complications such as hemolytic uremic syndrome (HUS) can occur, which may lead to kidney failure and other long-term health problems.

Preventing E. coli infections involves practicing good hygiene, cooking meats thoroughly, avoiding cross-contamination of food during preparation, washing fruits and vegetables before eating, and avoiding unpasteurized dairy products and juices. Prompt medical attention is necessary if symptoms of an E. coli infection are suspected to prevent potential complications.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

The rectum is the lower end of the digestive tract, located between the sigmoid colon and the anus. It serves as a storage area for feces before they are eliminated from the body. The rectum is about 12 cm long in adults and is surrounded by layers of muscle that help control defecation. The mucous membrane lining the rectum allows for the detection of stool, which triggers the reflex to have a bowel movement.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

Medical Definition:
Microtubule-associated proteins (MAPs) are a diverse group of proteins that bind to microtubules, which are key components of the cytoskeleton in eukaryotic cells. MAPs play crucial roles in regulating microtubule dynamics and stability, as well as in mediating interactions between microtubules and other cellular structures. They can be classified into several categories based on their functions, including:

1. Microtubule stabilizers: These MAPs promote the assembly of microtubules and protect them from disassembly by enhancing their stability. Examples include tau proteins and MAP2.
2. Microtubule dynamics regulators: These MAPs modulate the rate of microtubule polymerization and depolymerization, allowing for dynamic reorganization of the cytoskeleton during cell division and other processes. Examples include stathmin and XMAP215.
3. Microtubule motor proteins: These MAPs use energy from ATP hydrolysis to move along microtubules, transporting various cargoes within the cell. Examples include kinesin and dynein.
4. Adapter proteins: These MAPs facilitate interactions between microtubules and other cellular structures, such as membranes, organelles, or signaling molecules. Examples include MAP4 and CLASPs.

Dysregulation of MAPs has been implicated in several diseases, including neurodegenerative disorders like Alzheimer's disease (where tau proteins form abnormal aggregates called neurofibrillary tangles) and cancer (where altered microtubule dynamics can contribute to uncontrolled cell division).

Wnt1 protein is a member of the Wnt family, which is a group of secreted signaling proteins that play crucial roles in embryonic development and tissue homeostasis in adults. Specifically, Wnt1 is a highly conserved gene that encodes a glycoprotein with a molecular weight of approximately 40 kDa. It is primarily expressed in the developing nervous system, where it functions as a key regulator of neural crest cell migration and differentiation during embryogenesis.

Wnt1 protein mediates its effects by binding to Frizzled receptors on the surface of target cells, leading to the activation of several intracellular signaling pathways, including the canonical Wnt/β-catenin pathway and non-canonical Wnt/planar cell polarity (PCP) pathway. In the canonical pathway, Wnt1 protein stabilizes β-catenin, which then translocates to the nucleus and interacts with TCF/LEF transcription factors to regulate gene expression.

Dysregulation of Wnt1 signaling has been implicated in several human diseases, including cancer. For example, aberrant activation of the Wnt/β-catenin pathway by Wnt1 protein has been observed in various types of tumors, such as medulloblastomas and breast cancers, leading to uncontrolled cell proliferation and tumor growth. Therefore, understanding the molecular mechanisms underlying Wnt1 signaling is essential for developing novel therapeutic strategies for treating these diseases.

Neoplastic cell transformation is a process in which a normal cell undergoes genetic alterations that cause it to become cancerous or malignant. This process involves changes in the cell's DNA that result in uncontrolled cell growth and division, loss of contact inhibition, and the ability to invade surrounding tissues and metastasize (spread) to other parts of the body.

Neoplastic transformation can occur as a result of various factors, including genetic mutations, exposure to carcinogens, viral infections, chronic inflammation, and aging. These changes can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, which regulate cell growth and division.

The transformation of normal cells into cancerous cells is a complex and multi-step process that involves multiple genetic and epigenetic alterations. It is characterized by several hallmarks, including sustained proliferative signaling, evasion of growth suppressors, resistance to cell death, enabling replicative immortality, induction of angiogenesis, activation of invasion and metastasis, reprogramming of energy metabolism, and evading immune destruction.

Neoplastic cell transformation is a fundamental concept in cancer biology and is critical for understanding the molecular mechanisms underlying cancer development and progression. It also has important implications for cancer diagnosis, prognosis, and treatment, as identifying the specific genetic alterations that underlie neoplastic transformation can help guide targeted therapies and personalized medicine approaches.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The cell nucleus is a membrane-bound organelle found in the eukaryotic cells (cells with a true nucleus). It contains most of the cell's genetic material, organized as DNA molecules in complex with proteins, RNA molecules, and histones to form chromosomes.

The primary function of the cell nucleus is to regulate and control the activities of the cell, including growth, metabolism, protein synthesis, and reproduction. It also plays a crucial role in the process of mitosis (cell division) by separating and protecting the genetic material during this process. The nuclear membrane, or nuclear envelope, surrounding the nucleus is composed of two lipid bilayers with numerous pores that allow for the selective transport of molecules between the nucleoplasm (nucleus interior) and the cytoplasm (cell exterior).

The cell nucleus is a vital structure in eukaryotic cells, and its dysfunction can lead to various diseases, including cancer and genetic disorders.

'Tumor cells, cultured' refers to the process of removing cancerous cells from a tumor and growing them in controlled laboratory conditions. This is typically done by isolating the tumor cells from a patient's tissue sample, then placing them in a nutrient-rich environment that promotes their growth and multiplication.

The resulting cultured tumor cells can be used for various research purposes, including the study of cancer biology, drug development, and toxicity testing. They provide a valuable tool for researchers to better understand the behavior and characteristics of cancer cells outside of the human body, which can lead to the development of more effective cancer treatments.

It is important to note that cultured tumor cells may not always behave exactly the same way as they do in the human body, so findings from cell culture studies must be validated through further research, such as animal models or clinical trials.

Neoplastic gene expression regulation refers to the processes that control the production of proteins and other molecules from genes in neoplastic cells, or cells that are part of a tumor or cancer. In a normal cell, gene expression is tightly regulated to ensure that the right genes are turned on or off at the right time. However, in cancer cells, this regulation can be disrupted, leading to the overexpression or underexpression of certain genes.

Neoplastic gene expression regulation can be affected by a variety of factors, including genetic mutations, epigenetic changes, and signals from the tumor microenvironment. These changes can lead to the activation of oncogenes (genes that promote cancer growth and development) or the inactivation of tumor suppressor genes (genes that prevent cancer).

Understanding neoplastic gene expression regulation is important for developing new therapies for cancer, as targeting specific genes or pathways involved in this process can help to inhibit cancer growth and progression.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

The intestines, also known as the bowel, are a part of the digestive system that extends from the stomach to the anus. They are responsible for the further breakdown and absorption of nutrients from food, as well as the elimination of waste products. The intestines can be divided into two main sections: the small intestine and the large intestine.

The small intestine is a long, coiled tube that measures about 20 feet in length and is lined with tiny finger-like projections called villi, which increase its surface area and enhance nutrient absorption. The small intestine is where most of the digestion and absorption of nutrients takes place.

The large intestine, also known as the colon, is a wider tube that measures about 5 feet in length and is responsible for absorbing water and electrolytes from digested food, forming stool, and eliminating waste products from the body. The large intestine includes several regions, including the cecum, colon, rectum, and anus.

Together, the intestines play a critical role in maintaining overall health and well-being by ensuring that the body receives the nutrients it needs to function properly.

HCT116 cells are a type of human colon cancer cell line that is widely used in scientific research. They were originally established in the early 1980s from a primary colon tumor that had metastasized to the liver. HCT116 cells are known for their stability, robust growth, and susceptibility to various genetic manipulations, making them a popular choice for studying cancer biology, drug discovery, and gene function.

These cells have several important features that make them useful in research. For example, they harbor mutations in key genes involved in colorectal cancer development, such as the adenomatous polyposis coli (APC) gene and the KRAS oncogene. Additionally, HCT116 cells can be easily cultured in the lab and are amenable to a variety of experimental techniques, including genetic modification, drug screening, and protein analysis.

It is important to note that while HCT116 cells provide valuable insights into colon cancer biology, they represent only one type of cancer cell line, and their behavior may not necessarily reflect the complexity of human tumors in vivo. Therefore, researchers must exercise caution when interpreting results obtained from these cells and consider other complementary approaches to validate their findings.

Adaptor proteins are a type of protein that play a crucial role in intracellular signaling pathways by serving as a link between different components of the signaling complex. Specifically, "signal transducing adaptor proteins" refer to those adaptor proteins that are involved in signal transduction processes, where they help to transmit signals from the cell surface receptors to various intracellular effectors. These proteins typically contain modular domains that allow them to interact with multiple partners, thereby facilitating the formation of large signaling complexes and enabling the integration of signals from different pathways.

Signal transducing adaptor proteins can be classified into several families based on their structural features, including the Src homology 2 (SH2) domain, the Src homology 3 (SH3) domain, and the phosphotyrosine-binding (PTB) domain. These domains enable the adaptor proteins to recognize and bind to specific motifs on other signaling molecules, such as receptor tyrosine kinases, G protein-coupled receptors, and cytokine receptors.

One well-known example of a signal transducing adaptor protein is the growth factor receptor-bound protein 2 (Grb2), which contains an SH2 domain that binds to phosphotyrosine residues on activated receptor tyrosine kinases. Grb2 also contains an SH3 domain that interacts with proline-rich motifs on other signaling proteins, such as the guanine nucleotide exchange factor SOS. This interaction facilitates the activation of the Ras small GTPase and downstream signaling pathways involved in cell growth, differentiation, and survival.

Overall, signal transducing adaptor proteins play a critical role in regulating various cellular processes by modulating intracellular signaling pathways in response to extracellular stimuli. Dysregulation of these proteins has been implicated in various diseases, including cancer and inflammatory disorders.

Transcription factors are proteins that play a crucial role in regulating gene expression by controlling the transcription of DNA to messenger RNA (mRNA). They function by binding to specific DNA sequences, known as response elements, located in the promoter region or enhancer regions of target genes. This binding can either activate or repress the initiation of transcription, depending on the properties and interactions of the particular transcription factor. Transcription factors often act as part of a complex network of regulatory proteins that determine the precise spatiotemporal patterns of gene expression during development, differentiation, and homeostasis in an organism.

A precancerous condition, also known as a premalignant condition, is a state of abnormal cellular growth and development that has a higher-than-normal potential to progress into cancer. These conditions are characterized by the presence of certain anomalies in the cells, such as dysplasia (abnormal changes in cell shape or size), which can indicate an increased risk for malignant transformation.

It is important to note that not all precancerous conditions will eventually develop into cancer, and some may even regress on their own. However, individuals with precancerous conditions are often at a higher risk of developing cancer compared to the general population. Regular monitoring and appropriate medical interventions, if necessary, can help manage this risk and potentially prevent or detect cancer at an early stage when it is more treatable.

Examples of precancerous conditions include:

1. Dysplasia in the cervix (cervical intraepithelial neoplasia or CIN)
2. Atypical ductal hyperplasia or lobular hyperplasia in the breast
3. Actinic keratosis on the skin
4. Leukoplakia in the mouth
5. Barrett's esophagus in the digestive tract

Regular medical check-ups, screenings, and lifestyle modifications are crucial for individuals with precancerous conditions to monitor their health and reduce the risk of cancer development.

Cell surface extensions, also known as cellular processes or protrusions, are specialized structures that extend from the plasma membrane of a eukaryotic cell. These extensions include various types of projections such as cilia, flagella, and filopodia, as well as larger and more complex structures like lamellipodia and pseudopodia.

Cilia and flagella are hair-like structures that are involved in cell movement and the sensation of external stimuli. They are composed of a core of microtubules surrounded by the plasma membrane.

Filopodia are thin, finger-like protrusions that contain bundles of actin filaments and are involved in cell motility, sensing the environment, and establishing cell-cell contacts.

Lamellipodia are sheet-like extensions composed of a branched network of actin filaments and are involved in cell migration.

Pseudopodia are large, irregularly shaped protrusions that contain a mixture of actin filaments and other cytoskeletal elements, and are involved in phagocytosis and cell motility.

These cell surface extensions play important roles in various biological processes, including cell motility, sensing the environment, establishing cell-cell contacts, and the uptake of extracellular material.

Non-steroidal anti-inflammatory agents (NSAIDs) are a class of medications that reduce pain, inflammation, and fever. They work by inhibiting the activity of cyclooxygenase (COX) enzymes, which are involved in the production of prostaglandins, chemicals that contribute to inflammation and cause blood vessels to dilate and become more permeable, leading to symptoms such as pain, redness, warmth, and swelling.

NSAIDs are commonly used to treat a variety of conditions, including arthritis, muscle strains and sprains, menstrual cramps, headaches, and fever. Some examples of NSAIDs include aspirin, ibuprofen, naproxen, and celecoxib.

While NSAIDs are generally safe and effective when used as directed, they can have side effects, particularly when taken in large doses or for long periods of time. Common side effects include stomach ulcers, gastrointestinal bleeding, and increased risk of heart attack and stroke. It is important to follow the recommended dosage and consult with a healthcare provider if you have any concerns about using NSAIDs.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Alpha-catenin is a protein that plays a crucial role in cell adhesion and the maintenance of the cytoskeleton. It is a component of the cadherin-catenin complex, which is responsible for forming tight junctions between cells, known as adherens junctions. Alpha-catenin binds to beta-catenin, which in turn interacts with cadherins, transmembrane proteins that mediate cell-cell adhesion. This interaction helps to link the actin cytoskeleton to the cadherin-catenin complex, providing strength and stability to adherens junctions. Additionally, alpha-catenin has been implicated in various signaling pathways related to cell growth, differentiation, and migration.

Tertiary protein structure refers to the three-dimensional arrangement of all the elements (polypeptide chains) of a single protein molecule. It is the highest level of structural organization and results from interactions between various side chains (R groups) of the amino acids that make up the protein. These interactions, which include hydrogen bonds, ionic bonds, van der Waals forces, and disulfide bridges, give the protein its unique shape and stability, which in turn determines its function. The tertiary structure of a protein can be stabilized by various factors such as temperature, pH, and the presence of certain ions. Any changes in these factors can lead to denaturation, where the protein loses its tertiary structure and thus its function.

Repressor proteins are a type of regulatory protein in molecular biology that suppress the transcription of specific genes into messenger RNA (mRNA) by binding to DNA. They function as part of gene regulation processes, often working in conjunction with an operator region and a promoter region within the DNA molecule. Repressor proteins can be activated or deactivated by various signals, allowing for precise control over gene expression in response to changing cellular conditions.

There are two main types of repressor proteins:

1. DNA-binding repressors: These directly bind to specific DNA sequences (operator regions) near the target gene and prevent RNA polymerase from transcribing the gene into mRNA.
2. Allosteric repressors: These bind to effector molecules, which then cause a conformational change in the repressor protein, enabling it to bind to DNA and inhibit transcription.

Repressor proteins play crucial roles in various biological processes, such as development, metabolism, and stress response, by controlling gene expression patterns in cells.

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

A codon is a sequence of three adjacent nucleotides in DNA or RNA that specifies the insertion of a particular amino acid during protein synthesis, or signals the beginning or end of translation. In DNA, these triplets are read during transcription to produce a complementary mRNA molecule, which is then translated into a polypeptide chain during translation. There are 64 possible codons in the standard genetic code, with 61 encoding for specific amino acids and three serving as stop codons that signal the termination of protein synthesis.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

Pouchitis is a condition characterized by inflammation of the ileal pouch, a surgically created reservoir that is connected to the patient's anus in individuals who have undergone proctocolectomy with ileal pouch-anal anastomosis (IPAA). This procedure is often performed in patients with ulcerative colitis or familial adenomatous polyposis.

Pouchitis can present with symptoms such as diarrhea, abdominal cramps, urgency, and fecal incontinence. The exact cause of pouchitis remains unclear, but it is thought to be related to changes in the microbiota or an overactive immune response in the ileal pouch.

The diagnosis of pouchitis typically involves a combination of clinical symptoms, endoscopic findings, and histopathological examination of biopsies taken during endoscopy. Treatment options for pouchitis include antibiotics, anti-inflammatory medications, and probiotics, depending on the severity and frequency of the condition.

A cell line that is derived from tumor cells and has been adapted to grow in culture. These cell lines are often used in research to study the characteristics of cancer cells, including their growth patterns, genetic changes, and responses to various treatments. They can be established from many different types of tumors, such as carcinomas, sarcomas, and leukemias. Once established, these cell lines can be grown and maintained indefinitely in the laboratory, allowing researchers to conduct experiments and studies that would not be feasible using primary tumor cells. It is important to note that tumor cell lines may not always accurately represent the behavior of the original tumor, as they can undergo genetic changes during their time in culture.

Proto-oncogene proteins are normal cellular proteins that play crucial roles in various cellular processes, such as signal transduction, cell cycle regulation, and apoptosis (programmed cell death). They are involved in the regulation of cell growth, differentiation, and survival under physiological conditions.

When proto-oncogene proteins undergo mutations or aberrations in their expression levels, they can transform into oncogenic forms, leading to uncontrolled cell growth and division. These altered proteins are then referred to as oncogene products or oncoproteins. Oncogenic mutations can occur due to various factors, including genetic predisposition, environmental exposures, and aging.

Examples of proto-oncogene proteins include:

1. Ras proteins: Involved in signal transduction pathways that regulate cell growth and differentiation. Activating mutations in Ras genes are found in various human cancers.
2. Myc proteins: Regulate gene expression related to cell cycle progression, apoptosis, and metabolism. Overexpression of Myc proteins is associated with several types of cancer.
3. EGFR (Epidermal Growth Factor Receptor): A transmembrane receptor tyrosine kinase that regulates cell proliferation, survival, and differentiation. Mutations or overexpression of EGFR are linked to various malignancies, such as lung cancer and glioblastoma.
4. Src family kinases: Intracellular tyrosine kinases that regulate signal transduction pathways involved in cell proliferation, survival, and migration. Dysregulation of Src family kinases is implicated in several types of cancer.
5. Abl kinases: Cytoplasmic tyrosine kinases that regulate various cellular processes, including cell growth, differentiation, and stress responses. Aberrant activation of Abl kinases, as seen in chronic myelogenous leukemia (CML), leads to uncontrolled cell proliferation.

Understanding the roles of proto-oncogene proteins and their dysregulation in cancer development is essential for developing targeted cancer therapies that aim to inhibit or modulate these aberrant signaling pathways.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

A colonoscopy is a medical procedure used to examine the large intestine, also known as the colon and rectum. It is performed using a flexible tube with a tiny camera on the end, called a colonoscope, which is inserted into the rectum and gently guided through the entire length of the colon.

The procedure allows doctors to visually inspect the lining of the colon for any abnormalities such as polyps, ulcers, inflammation, or cancer. If any polyps are found during the procedure, they can be removed immediately using special tools passed through the colonoscope. Colonoscopy is an important tool in the prevention and early detection of colorectal cancer, which is one of the leading causes of cancer-related deaths worldwide.

Patients are usually given a sedative to help them relax during the procedure, which is typically performed on an outpatient basis in a hospital or clinic setting. The entire procedure usually takes about 30-60 minutes to complete, although patients should plan to spend several hours at the medical facility for preparation and recovery.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

Carcinoma is a type of cancer that develops from epithelial cells, which are the cells that line the inner and outer surfaces of the body. These cells cover organs, glands, and other structures within the body. Carcinomas can occur in various parts of the body, including the skin, lungs, breasts, prostate, colon, and pancreas. They are often characterized by the uncontrolled growth and division of abnormal cells that can invade surrounding tissues and spread to other parts of the body through a process called metastasis. Carcinomas can be further classified based on their appearance under a microscope, such as adenocarcinoma, squamous cell carcinoma, and basal cell carcinoma.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

"Xenopus proteins" refer to the proteins that are expressed or isolated from the Xenopus species, which are primarily used as model organisms in biological and biomedical research. The most commonly used Xenopus species for research are the African clawed frogs, Xenopus laevis and Xenopus tropicalis. These proteins play crucial roles in various cellular processes and functions, and they serve as valuable tools to study different aspects of molecular biology, developmental biology, genetics, and biochemistry.

Some examples of Xenopus proteins that are widely studied include:

1. Xenopus Histones: These are the proteins that package DNA into nucleosomes, which are the fundamental units of chromatin in eukaryotic cells. They play a significant role in gene regulation and epigenetic modifications.
2. Xenopus Cyclins and Cyclin-dependent kinases (CDKs): These proteins regulate the cell cycle and control cell division, differentiation, and apoptosis.
3. Xenopus Transcription factors: These proteins bind to specific DNA sequences and regulate gene expression during development and in response to various stimuli.
4. Xenopus Signaling molecules: These proteins are involved in intracellular signaling pathways that control various cellular processes, such as cell growth, differentiation, migration, and survival.
5. Xenopus Cytoskeletal proteins: These proteins provide structural support to the cells and regulate their shape, motility, and organization.
6. Xenopus Enzymes: These proteins catalyze various biochemical reactions in the cell, such as metabolic pathways, DNA replication, transcription, and translation.

Overall, Xenopus proteins are essential tools for understanding fundamental biological processes and have contributed significantly to our current knowledge of molecular biology, genetics, and developmental biology.

Cyclooxygenase-2 (COX-2) is an enzyme involved in the synthesis of prostaglandins, which are hormone-like substances that play a role in inflammation, pain, and fever. COX-2 is primarily expressed in response to stimuli such as cytokines and growth factors, and its expression is associated with the development of inflammation.

COX-2 inhibitors are a class of nonsteroidal anti-inflammatory drugs (NSAIDs) that selectively block the activity of COX-2, reducing the production of prostaglandins and providing analgesic, anti-inflammatory, and antipyretic effects. These medications are often used to treat pain and inflammation associated with conditions such as arthritis, menstrual cramps, and headaches.

It's important to note that while COX-2 inhibitors can be effective in managing pain and inflammation, they may also increase the risk of cardiovascular events such as heart attack and stroke, particularly when used at high doses or for extended periods. Therefore, it's essential to use these medications under the guidance of a healthcare provider and to follow their instructions carefully.

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

Multiple primary neoplasms refer to the occurrence of more than one primary malignant tumor in an individual, where each tumor is unrelated to the other and originates from separate cells or organs. This differs from metastatic cancer, where a single malignancy spreads to multiple sites in the body. Multiple primary neoplasms can be synchronous (occurring at the same time) or metachronous (occurring at different times). The risk of developing multiple primary neoplasms increases with age and is associated with certain genetic predispositions, environmental factors, and lifestyle choices such as smoking and alcohol consumption.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Tumor suppressor genes are a type of gene that helps to regulate and prevent cells from growing and dividing too rapidly or in an uncontrolled manner. They play a critical role in preventing the formation of tumors and cancer. When functioning properly, tumor suppressor genes help to repair damaged DNA, control the cell cycle, and trigger programmed cell death (apoptosis) when necessary. However, when these genes are mutated or altered, they can lose their ability to function correctly, leading to uncontrolled cell growth and the development of tumors. Examples of tumor suppressor genes include TP53, BRCA1, and BRCA2.

A fibroma is a benign (non-cancerous) tumor that consists primarily of fibrous or connective tissue. It can occur in various parts of the body, including the skin, mouth, and internal organs. The term "fibroma" is often used to describe any benign fibrous growth, but there are specific types of fibromas such as dermatofibroma (found in the skin), oral fibroma (found in the mouth), and benign fibrous histiocytoma (found in soft tissues).

It's important to note that while fibromas are generally harmless, they can cause discomfort or problems depending on their size and location. If a fibroma is causing issues or there's concern about its growth or malignancy, it should be evaluated by a healthcare professional for potential removal or further assessment.

HT-29 is a human colon adenocarcinoma cell line that is commonly used in research. These cells are derived from a colorectal cancer tumor and have the ability to differentiate into various cell types found in the intestinal mucosa, such as absorptive enterocytes and mucus-secreting goblet cells. HT-29 cells are often used to study the biology of colon cancer, including the effects of drugs on cancer cell growth and survival, as well as the role of various genes and signaling pathways in colorectal tumorigenesis.

It is important to note that when working with cell lines like HT-29, it is essential to use proper laboratory techniques and follow established protocols to ensure the integrity and reproducibility of experimental results. Additionally, researchers should regularly authenticate their cell lines to confirm their identity and verify that they are free from contamination with other cell types.

Anticarcinogenic agents are substances that prevent, inhibit or reduce the development of cancer. They can be natural or synthetic compounds that interfere with the process of carcinogenesis at various stages, such as initiation, promotion, and progression. Anticarcinogenic agents may work by preventing DNA damage, promoting DNA repair, reducing inflammation, inhibiting cell proliferation, inducing apoptosis (programmed cell death), or modulating immune responses.

Examples of anticarcinogenic agents include chemopreventive agents, such as nonsteroidal anti-inflammatory drugs (NSAIDs) and retinoids; phytochemicals found in fruits, vegetables, and other plant-based foods; and medications used to treat cancer, such as chemotherapy, radiation therapy, and targeted therapies.

It is important to note that while some anticarcinogenic agents have been shown to be effective in preventing or reducing the risk of certain types of cancer, they may also have potential side effects and risks. Therefore, it is essential to consult with a healthcare professional before using any anticarcinogenic agent for cancer prevention or treatment purposes.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Cytoplasm is the material within a eukaryotic cell (a cell with a true nucleus) that lies between the nuclear membrane and the cell membrane. It is composed of an aqueous solution called cytosol, in which various organelles such as mitochondria, ribosomes, endoplasmic reticulum, Golgi apparatus, lysosomes, and vacuoles are suspended. Cytoplasm also contains a variety of dissolved nutrients, metabolites, ions, and enzymes that are involved in various cellular processes such as metabolism, signaling, and transport. It is where most of the cell's metabolic activities take place, and it plays a crucial role in maintaining the structure and function of the cell.

Surgical anastomosis is a medical procedure that involves the connection of two tubular structures, such as blood vessels or intestines, to create a continuous passage. This technique is commonly used in various types of surgeries, including vascular, gastrointestinal, and orthopedic procedures.

During a surgical anastomosis, the ends of the two tubular structures are carefully prepared by removing any damaged or diseased tissue. The ends are then aligned and joined together using sutures, staples, or other devices. The connection must be secure and leak-free to ensure proper function and healing.

The success of a surgical anastomosis depends on several factors, including the patient's overall health, the location and condition of the structures being joined, and the skill and experience of the surgeon. Complications such as infection, bleeding, or leakage can occur, which may require additional medical intervention or surgery.

Proper postoperative care is also essential to ensure the success of a surgical anastomosis. This may include monitoring for signs of complications, administering medications to prevent infection and promote healing, and providing adequate nutrition and hydration.

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

Down-regulation is a process that occurs in response to various stimuli, where the number or sensitivity of cell surface receptors or the expression of specific genes is decreased. This process helps maintain homeostasis within cells and tissues by reducing the ability of cells to respond to certain signals or molecules.

In the context of cell surface receptors, down-regulation can occur through several mechanisms:

1. Receptor internalization: After binding to their ligands, receptors can be internalized into the cell through endocytosis. Once inside the cell, these receptors may be degraded or recycled back to the cell surface in smaller numbers.
2. Reduced receptor synthesis: Down-regulation can also occur at the transcriptional level, where the expression of genes encoding for specific receptors is decreased, leading to fewer receptors being produced.
3. Receptor desensitization: Prolonged exposure to a ligand can lead to a decrease in receptor sensitivity or affinity, making it more difficult for the cell to respond to the signal.

In the context of gene expression, down-regulation refers to the decreased transcription and/or stability of specific mRNAs, leading to reduced protein levels. This process can be induced by various factors, including microRNA (miRNA)-mediated regulation, histone modification, or DNA methylation.

Down-regulation is an essential mechanism in many physiological processes and can also contribute to the development of several diseases, such as cancer and neurodegenerative disorders.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Ras genes are a group of genes that encode for proteins involved in cell signaling pathways that regulate cell growth, differentiation, and survival. Mutations in Ras genes have been associated with various types of cancer, as well as other diseases such as developmental disorders and autoimmune diseases. The Ras protein family includes H-Ras, K-Ras, and N-Ras, which are activated by growth factor receptors and other signals to activate downstream effectors involved in cell proliferation and survival. Abnormal activation of Ras signaling due to mutations or dysregulation can contribute to tumor development and progression.

Wnt3A is a type of Wnt protein, which is a secreted signaling molecule that plays crucial roles in the regulation of cell-to-cell communication during embryonic development and tissue homeostasis in adults. Specifically, Wnt3A is a member of the Wnt family that binds to Frizzled receptors and activates the canonical Wnt/β-catenin signaling pathway.

In this pathway, Wnt3A binding to its receptor leads to the inhibition of the β-catenin destruction complex, resulting in the stabilization and accumulation of β-catenin in the cytoplasm. β-catenin then translocates to the nucleus, where it interacts with TCF/LEF transcription factors to regulate the expression of target genes involved in cell proliferation, differentiation, and survival.

Wnt3A has been extensively studied in various biological contexts, including developmental biology, cancer research, and stem cell biology. In particular, Wnt3A has been shown to play important roles in the regulation of embryonic axis formation, neural crest development, and adult tissue regeneration. Dysregulation of Wnt/β-catenin signaling, including aberrant activation by Wnt3A, has been implicated in various human diseases, such as cancer, degenerative disorders, and fibrotic diseases.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Gastrointestinal (GI) neoplasms refer to abnormal growths in the gastrointestinal tract, which can be benign or malignant. The gastrointestinal tract includes the mouth, esophagus, stomach, small intestine, large intestine, rectum, and anus.

Benign neoplasms are non-cancerous growths that do not invade nearby tissues or spread to other parts of the body. They can sometimes be removed completely and may not cause any further health problems.

Malignant neoplasms, on the other hand, are cancerous growths that can invade nearby tissues and organs and spread to other parts of the body through the bloodstream or lymphatic system. These types of neoplasms can be life-threatening if not diagnosed and treated promptly.

GI neoplasms can cause various symptoms, including abdominal pain, bloating, changes in bowel habits, nausea, vomiting, weight loss, and anemia. The specific symptoms may depend on the location and size of the neoplasm.

There are many types of GI neoplasms, including adenocarcinomas, gastrointestinal stromal tumors (GISTs), lymphomas, and neuroendocrine tumors. The diagnosis of GI neoplasms typically involves a combination of medical history, physical examination, imaging studies, and biopsy. Treatment options may include surgery, radiation therapy, chemotherapy, targeted therapy, or immunotherapy.

Epithelial cells are types of cells that cover the outer surfaces of the body, line the inner surfaces of organs and glands, and form the lining of blood vessels and body cavities. They provide a protective barrier against the external environment, regulate the movement of materials between the internal and external environments, and are involved in the sense of touch, temperature, and pain. Epithelial cells can be squamous (flat and thin), cuboidal (square-shaped and of equal height), or columnar (tall and narrow) in shape and are classified based on their location and function.

An epidermal cyst is a common benign skin condition characterized by the growth of a sac-like structure filled with keratin, a protein found in the outermost layer of the skin (epidermis). These cysts typically appear as round, firm bumps just under the surface of the skin, often on the face, neck, trunk, or scalp. They can vary in size from a few millimeters to several centimeters in diameter.

Epidermal cysts usually develop as a result of the accumulation of dead skin cells that become trapped within a hair follicle or a pilosebaceous unit (a structure that contains a hair follicle and an oil gland). The keratin produced by the skin cells then collects inside the sac, causing it to expand gradually.

These cysts are generally slow-growing, painless, and rarely cause any symptoms. However, they may become infected or inflamed, leading to redness, tenderness, pain, or pus formation. In such cases, medical attention might be necessary to drain the cyst or administer antibiotics to treat the infection.

Epidermal cysts can be removed surgically if they cause cosmetic concerns or become frequently infected. The procedure typically involves making an incision in the skin and removing the entire sac along with its contents to prevent recurrence.

Hyperplasia is a medical term that refers to an abnormal increase in the number of cells in an organ or tissue, leading to an enlargement of the affected area. It's a response to various stimuli such as hormones, chronic irritation, or inflammation. Hyperplasia can be physiological, like the growth of breast tissue during pregnancy, or pathological, like in the case of benign or malignant tumors. The process is generally reversible if the stimulus is removed. It's important to note that hyperplasia itself is not cancerous, but some forms of hyperplasia can increase the risk of developing cancer over time.

In the context of medical and biological sciences, a "binding site" refers to a specific location on a protein, molecule, or cell where another molecule can attach or bind. This binding interaction can lead to various functional changes in the original protein or molecule. The other molecule that binds to the binding site is often referred to as a ligand, which can be a small molecule, ion, or even another protein.

The binding between a ligand and its target binding site can be specific and selective, meaning that only certain ligands can bind to particular binding sites with high affinity. This specificity plays a crucial role in various biological processes, such as signal transduction, enzyme catalysis, or drug action.

In the case of drug development, understanding the location and properties of binding sites on target proteins is essential for designing drugs that can selectively bind to these sites and modulate protein function. This knowledge can help create more effective and safer therapeutic options for various diseases.

Desmoplakins are important proteins that play a crucial role in the structural integrity and function of certain types of cell-to-cell junctions called desmosomes. Desmosomes are specialized structures that connect adjacent cells in tissues that undergo significant mechanical stress, such as the skin, heart, and gut.

Desmoplakins are large proteins that are composed of several domains, including a plakin domain, which interacts with other desmosomal components, and a spectrin-like repeat domain, which binds to intermediate filaments. By linking desmosomes to the intermediate filament network, desmoplakins help to provide mechanical strength and stability to tissues.

Mutations in the genes that encode desmoplakins have been associated with several human genetic disorders, including arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart condition characterized by abnormal heart rhythms and structural changes in the heart muscle, and epidermolysis bullosa simplex (EBS), a skin disorder characterized by blistering and fragility of the skin.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

Recombinant fusion proteins are artificially created biomolecules that combine the functional domains or properties of two or more different proteins into a single protein entity. They are generated through recombinant DNA technology, where the genes encoding the desired protein domains are linked together and expressed as a single, chimeric gene in a host organism, such as bacteria, yeast, or mammalian cells.

The resulting fusion protein retains the functional properties of its individual constituent proteins, allowing for novel applications in research, diagnostics, and therapeutics. For instance, recombinant fusion proteins can be designed to enhance protein stability, solubility, or immunogenicity, making them valuable tools for studying protein-protein interactions, developing targeted therapies, or generating vaccines against infectious diseases or cancer.

Examples of recombinant fusion proteins include:

1. Etaglunatide (ABT-523): A soluble Fc fusion protein that combines the heavy chain fragment crystallizable region (Fc) of an immunoglobulin with the extracellular domain of the human interleukin-6 receptor (IL-6R). This fusion protein functions as a decoy receptor, neutralizing IL-6 and its downstream signaling pathways in rheumatoid arthritis.
2. Etanercept (Enbrel): A soluble TNF receptor p75 Fc fusion protein that binds to tumor necrosis factor-alpha (TNF-α) and inhibits its proinflammatory activity, making it a valuable therapeutic option for treating autoimmune diseases like rheumatoid arthritis, ankylosing spondylitis, and psoriasis.
3. Abatacept (Orencia): A fusion protein consisting of the extracellular domain of cytotoxic T-lymphocyte antigen 4 (CTLA-4) linked to the Fc region of an immunoglobulin, which downregulates T-cell activation and proliferation in autoimmune diseases like rheumatoid arthritis.
4. Belimumab (Benlysta): A monoclonal antibody that targets B-lymphocyte stimulator (BLyS) protein, preventing its interaction with the B-cell surface receptor and inhibiting B-cell activation in systemic lupus erythematosus (SLE).
5. Romiplostim (Nplate): A fusion protein consisting of a thrombopoietin receptor agonist peptide linked to an immunoglobulin Fc region, which stimulates platelet production in patients with chronic immune thrombocytopenia (ITP).
6. Darbepoetin alfa (Aranesp): A hyperglycosylated erythropoiesis-stimulating protein that functions as a longer-acting form of recombinant human erythropoietin, used to treat anemia in patients with chronic kidney disease or cancer.
7. Palivizumab (Synagis): A monoclonal antibody directed against the F protein of respiratory syncytial virus (RSV), which prevents RSV infection and is administered prophylactically to high-risk infants during the RSV season.
8. Ranibizumab (Lucentis): A recombinant humanized monoclonal antibody fragment that binds and inhibits vascular endothelial growth factor A (VEGF-A), used in the treatment of age-related macular degeneration, diabetic retinopathy, and other ocular disorders.
9. Cetuximab (Erbitux): A chimeric monoclonal antibody that binds to epidermal growth factor receptor (EGFR), used in the treatment of colorectal cancer and head and neck squamous cell carcinoma.
10. Adalimumab (Humira): A fully humanized monoclonal antibody that targets tumor necrosis factor-alpha (TNF-α), used in the treatment of various inflammatory diseases, including rheumatoid arthritis, psoriasis, and Crohn's disease.
11. Bevacizumab (Avastin): A recombinant humanized monoclonal antibody that binds to VEGF-A, used in the treatment of various cancers, including colorectal, lung, breast, and kidney cancer.
12. Trastuzumab (Herceptin): A humanized monoclonal antibody that targets HER2/neu receptor, used in the treatment of breast cancer.
13. Rituximab (Rituxan): A chimeric monoclonal antibody that binds to CD20 antigen on B cells, used in the treatment of non-Hodgkin's lymphoma and rheumatoid arthritis.
14. Palivizumab (Synagis): A humanized monoclonal antibody that binds to the F protein of respiratory syncytial virus, used in the prevention of respiratory syncytial virus infection in high-risk infants.
15. Infliximab (Remicade): A chimeric monoclonal antibody that targets TNF-α, used in the treatment of various inflammatory diseases, including Crohn's disease, ulcerative colitis, rheumatoid arthritis, and ankylosing spondylitis.
16. Natalizumab (Tysabri): A humanized monoclonal antibody that binds to α4β1 integrin, used in the treatment of multiple sclerosis and Crohn's disease.
17. Adalimumab (Humira): A fully human monoclonal antibody that targets TNF-α, used in the treatment of various inflammatory diseases, including rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, Crohn's disease, and ulcerative colitis.
18. Golimumab (Simponi): A fully human monoclonal antibody that targets TNF-α, used in the treatment of rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, and ulcerative colitis.
19. Certolizumab pegol (Cimzia): A PEGylated Fab' fragment of a humanized monoclonal antibody that targets TNF-α, used in the treatment of rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, and Crohn's disease.
20. Ustekinumab (Stelara): A fully human monoclonal antibody that targets IL-12 and IL-23, used in the treatment of psoriasis, psoriatic arthritis, and Crohn's disease.
21. Secukinumab (Cosentyx): A fully human monoclonal antibody that targets IL-17A, used in the treatment of psoriasis, psoriatic arthritis, and ankylosing spondylitis.
22. Ixekizumab (Taltz): A fully human monoclonal antibody that targets IL-17A, used in the treatment of psoriasis and psoriatic arthritis.
23. Brodalumab (Siliq): A fully human monoclonal antibody that targets IL-17 receptor A, used in the treatment of psoriasis.
24. Sarilumab (Kevzara): A fully human monoclonal antibody that targets the IL-6 receptor, used in the treatment of rheumatoid arthritis.
25. Tocilizumab (Actemra): A humanized monoclonal antibody that targets the IL-6 receptor, used in the treatment of rheumatoid arthritis, systemic juvenile idiopathic arthritis, polyarticular juvenile idiopathic arthritis, giant cell arteritis, and chimeric antigen receptor T-cell-induced cytokine release syndrome.
26. Siltuximab (Sylvant): A chimeric monoclonal antibody that targets IL-6, used in the treatment of multicentric Castleman disease.
27. Satralizumab (Enspryng): A humanized monoclonal antibody that targets IL-6 receptor alpha, used in the treatment of neuromyelitis optica spectrum disorder.
28. Sirukumab (Plivensia): A human monoclonal antibody that targets IL-6, used in the treatment

'Drosophila proteins' refer to the proteins that are expressed in the fruit fly, Drosophila melanogaster. This organism is a widely used model system in genetics, developmental biology, and molecular biology research. The study of Drosophila proteins has contributed significantly to our understanding of various biological processes, including gene regulation, cell signaling, development, and aging.

Some examples of well-studied Drosophila proteins include:

1. HSP70 (Heat Shock Protein 70): A chaperone protein involved in protein folding and protection from stress conditions.
2. TUBULIN: A structural protein that forms microtubules, important for cell division and intracellular transport.
3. ACTIN: A cytoskeletal protein involved in muscle contraction, cell motility, and maintenance of cell shape.
4. BETA-GALACTOSIDASE (LACZ): A reporter protein often used to monitor gene expression patterns in transgenic flies.
5. ENDOGLIN: A protein involved in the development of blood vessels during embryogenesis.
6. P53: A tumor suppressor protein that plays a crucial role in preventing cancer by regulating cell growth and division.
7. JUN-KINASE (JNK): A signaling protein involved in stress response, apoptosis, and developmental processes.
8. DECAPENTAPLEGIC (DPP): A member of the TGF-β (Transforming Growth Factor Beta) superfamily, playing essential roles in embryonic development and tissue homeostasis.

These proteins are often studied using various techniques such as biochemistry, genetics, molecular biology, and structural biology to understand their functions, interactions, and regulation within the cell.

Rectal neoplasms refer to abnormal growths in the tissues of the rectum, which can be benign or malignant. They are characterized by uncontrolled cell division and can invade nearby tissues or spread to other parts of the body (metastasis). The most common type of rectal neoplasm is rectal cancer, which often begins as a small polyp or growth in the lining of the rectum. Other types of rectal neoplasms include adenomas, carcinoids, and gastrointestinal stromal tumors (GISTs). Regular screenings are recommended for early detection and treatment of rectal neoplasms.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Escherichia coli (E. coli) O157 is a serotype of the bacterium E. coli that is associated with foodborne illness. This strain is pathogenic and produces Shiga toxins, which can cause severe damage to the lining of the small intestine and potentially lead to hemorrhagic diarrhea and kidney failure. E. coli O157 is often transmitted through contaminated food, particularly undercooked ground beef, as well as raw or unpasteurized dairy products, fruits, and vegetables. It can also be spread through contact with infected individuals or animals, especially in settings like farms, petting zoos, and swimming pools. Proper food handling, cooking, and hygiene practices are crucial to preventing E. coli O157 infections.

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of benign tumors called hamartomas in the gastrointestinal tract and pigmented macules on the skin and mucous membranes. The syndrome is caused by mutations in the STK11/LKB1 gene, which is involved in regulating cell growth and division.

Individuals with PJS have an increased risk of developing various types of cancer, including gastrointestinal tract cancers, breast cancer, ovarian cancer, lung cancer, and cervical cancer. The diagnosis of PJS is typically made based on the presence of characteristic clinical features, such as multiple pigmented macules on the skin and mucous membranes, and a history of benign gastrointestinal tumors or family history of PJS.

Management of PJS involves regular surveillance for gastrointestinal tumors and cancer screening, as well as genetic counseling and testing for family members who may be at risk. Treatment options depend on the location and size of the tumors and may include endoscopic removal or surgery.

Cell division is the process by which a single eukaryotic cell (a cell with a true nucleus) divides into two identical daughter cells. This complex process involves several stages, including replication of DNA, separation of chromosomes, and division of the cytoplasm. There are two main types of cell division: mitosis and meiosis.

Mitosis is the type of cell division that results in two genetically identical daughter cells. It is a fundamental process for growth, development, and tissue repair in multicellular organisms. The stages of mitosis include prophase, prometaphase, metaphase, anaphase, and telophase, followed by cytokinesis, which divides the cytoplasm.

Meiosis, on the other hand, is a type of cell division that occurs in the gonads (ovaries and testes) during the production of gametes (sex cells). Meiosis results in four genetically unique daughter cells, each with half the number of chromosomes as the parent cell. This process is essential for sexual reproduction and genetic diversity. The stages of meiosis include meiosis I and meiosis II, which are further divided into prophase, prometaphase, metaphase, anaphase, and telophase.

In summary, cell division is the process by which a single cell divides into two daughter cells, either through mitosis or meiosis. This process is critical for growth, development, tissue repair, and sexual reproduction in multicellular organisms.

Gamma-catenin, also known as plakoglobin, is a protein that is involved in cell adhesion and the regulation of gene expression. It is a member of the catenin family, which includes beta-catenin and alpha-catenin. Gamma-catenin is found at adherens junctions, where it interacts with cadherins to help maintain cell-cell adhesion. It also plays a role in the Wnt signaling pathway, where it can bind to TCF/LEF transcription factors and regulate the expression of target genes. Mutations in the gene that encodes gamma-catenin have been associated with several types of cancer, including colon cancer and melanoma.

Fluorescence microscopy is a type of microscopy that uses fluorescent dyes or proteins to highlight and visualize specific components within a sample. In this technique, the sample is illuminated with high-energy light, typically ultraviolet (UV) or blue light, which excites the fluorescent molecules causing them to emit lower-energy, longer-wavelength light, usually visible light in the form of various colors. This emitted light is then collected by the microscope and detected to produce an image.

Fluorescence microscopy has several advantages over traditional brightfield microscopy, including the ability to visualize specific structures or molecules within a complex sample, increased sensitivity, and the potential for quantitative analysis. It is widely used in various fields of biology and medicine, such as cell biology, neuroscience, and pathology, to study the structure, function, and interactions of cells and proteins.

There are several types of fluorescence microscopy techniques, including widefield fluorescence microscopy, confocal microscopy, two-photon microscopy, and total internal reflection fluorescence (TIRF) microscopy, each with its own strengths and limitations. These techniques can provide valuable insights into the behavior of cells and proteins in health and disease.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

The small intestine is the portion of the gastrointestinal tract that extends from the pylorus of the stomach to the beginning of the large intestine (cecum). It plays a crucial role in the digestion and absorption of nutrients from food. The small intestine is divided into three parts: the duodenum, jejunum, and ileum.

1. Duodenum: This is the shortest and widest part of the small intestine, approximately 10 inches long. It receives chyme (partially digested food) from the stomach and begins the process of further digestion with the help of various enzymes and bile from the liver and pancreas.
2. Jejunum: The jejunum is the middle section, which measures about 8 feet in length. It has a large surface area due to the presence of circular folds (plicae circulares), finger-like projections called villi, and microvilli on the surface of the absorptive cells (enterocytes). These structures increase the intestinal surface area for efficient absorption of nutrients, electrolytes, and water.
3. Ileum: The ileum is the longest and final section of the small intestine, spanning about 12 feet. It continues the absorption process, mainly of vitamin B12, bile salts, and any remaining nutrients. At the end of the ileum, there is a valve called the ileocecal valve that prevents backflow of contents from the large intestine into the small intestine.

The primary function of the small intestine is to absorb the majority of nutrients, electrolytes, and water from ingested food. The mucosal lining of the small intestine contains numerous goblet cells that secrete mucus, which protects the epithelial surface and facilitates the movement of chyme through peristalsis. Additionally, the small intestine hosts a diverse community of microbiota, which contributes to various physiological functions, including digestion, immunity, and protection against pathogens.

Chromosomal instability is a term used in genetics to describe a type of genetic alteration where there are abnormalities in the number or structure of chromosomes within cells. Chromosomes are thread-like structures that contain our genetic material, and they usually exist in pairs in the nucleus of a cell.

Chromosomal instability can arise due to various factors, including errors in DNA replication or repair, problems during cell division, or exposure to environmental mutagens. This instability can lead to an increased frequency of chromosomal abnormalities, such as deletions, duplications, translocations, or changes in the number of chromosomes.

Chromosomal instability is associated with several human diseases, including cancer. In cancer cells, chromosomal instability can contribute to tumor heterogeneity, drug resistance, and disease progression. It is also observed in certain genetic disorders, such as Down syndrome, where an extra copy of chromosome 21 is present, and in some rare inherited syndromes, such as Bloom syndrome and Fanconi anemia, which are characterized by a high risk of cancer and other health problems.

Gene silencing is a process by which the expression of a gene is blocked or inhibited, preventing the production of its corresponding protein. This can occur naturally through various mechanisms such as RNA interference (RNAi), where small RNAs bind to and degrade specific mRNAs, or DNA methylation, where methyl groups are added to the DNA molecule, preventing transcription. Gene silencing can also be induced artificially using techniques such as RNAi-based therapies, antisense oligonucleotides, or CRISPR-Cas9 systems, which allow for targeted suppression of gene expression in research and therapeutic applications.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.

Phosphorylation is the process of adding a phosphate group (a molecule consisting of one phosphorus atom and four oxygen atoms) to a protein or other organic molecule, which is usually done by enzymes called kinases. This post-translational modification can change the function, localization, or activity of the target molecule, playing a crucial role in various cellular processes such as signal transduction, metabolism, and regulation of gene expression. Phosphorylation is reversible, and the removal of the phosphate group is facilitated by enzymes called phosphatases.

Apoptosis is a programmed and controlled cell death process that occurs in multicellular organisms. It is a natural process that helps maintain tissue homeostasis by eliminating damaged, infected, or unwanted cells. During apoptosis, the cell undergoes a series of morphological changes, including cell shrinkage, chromatin condensation, and fragmentation into membrane-bound vesicles called apoptotic bodies. These bodies are then recognized and engulfed by neighboring cells or phagocytic cells, preventing an inflammatory response. Apoptosis is regulated by a complex network of intracellular signaling pathways that involve proteins such as caspases, Bcl-2 family members, and inhibitors of apoptosis (IAPs).

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

Calcium-calmodulin-dependent protein kinases (CAMKs) are a family of enzymes that play a crucial role in intracellular signaling pathways. They are activated by the binding of calcium ions and calmodulin, a ubiquitous calcium-binding protein, to their regulatory domain.

Once activated, CAMKs phosphorylate specific serine or threonine residues on target proteins, thereby modulating their activity, localization, or stability. This post-translational modification is essential for various cellular processes, including synaptic plasticity, gene expression, metabolism, and cell cycle regulation.

There are several subfamilies of CAMKs, including CaMKI, CaMKII, CaMKIII (also known as CaMKIV), and CaMK kinase (CaMKK). Each subfamily has distinct structural features, substrate specificity, and regulatory mechanisms. Dysregulation of CAMK signaling has been implicated in various pathological conditions, such as neurodegenerative diseases, cancer, and cardiovascular disorders.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

DNA glycosylases are a group of enzymes that play a crucial role in the maintenance of genetic material. They are responsible for initiating the base excision repair (BER) pathway, which is one of the major DNA repair mechanisms in cells.

The function of DNA glycosylases is to remove damaged or mismatched bases from DNA molecules. These enzymes recognize and bind to specific types of damaged or incorrect bases, and then cleave the N-glycosidic bond between the base and the deoxyribose sugar in the DNA backbone. This results in the formation of an apurinic/apyrimidinic (AP) site, which is subsequently processed by other enzymes in the BER pathway.

There are several different types of DNA glycosylases that recognize and remove specific types of damaged or incorrect bases. For example, some DNA glycosylases specialize in removing oxidized bases, while others are responsible for removing mismatched bases or those that have been alkylated or methylated.

Overall, the proper functioning of DNA glycosylases is essential for maintaining genomic stability and preventing the accumulation of mutations that can lead to diseases such as cancer.

Ulcerative colitis is a type of inflammatory bowel disease (IBD) that affects the lining of the large intestine (colon) and rectum. In ulcerative colitis, the lining of the colon becomes inflamed and develops ulcers or open sores that produce pus and mucous. The symptoms of ulcerative colitis include diarrhea, abdominal pain, and rectal bleeding.

The exact cause of ulcerative colitis is not known, but it is thought to be related to an abnormal immune response in which the body's immune system attacks the cells in the digestive tract. The inflammation can be triggered by environmental factors such as diet, stress, and infections.

Ulcerative colitis is a chronic condition that can cause symptoms ranging from mild to severe. It can also lead to complications such as anemia, malnutrition, and colon cancer. There is no cure for ulcerative colitis, but treatment options such as medications, lifestyle changes, and surgery can help manage the symptoms and prevent complications.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

The ileum is the third and final segment of the small intestine, located between the jejunum and the cecum (the beginning of the large intestine). It plays a crucial role in nutrient absorption, particularly for vitamin B12 and bile salts. The ileum is characterized by its thin, lined walls and the presence of Peyer's patches, which are part of the immune system and help surveil for pathogens.

Stomach neoplasms refer to abnormal growths in the stomach that can be benign or malignant. They include a wide range of conditions such as:

1. Gastric adenomas: These are benign tumors that develop from glandular cells in the stomach lining.
2. Gastrointestinal stromal tumors (GISTs): These are rare tumors that can be found in the stomach and other parts of the digestive tract. They originate from the stem cells in the wall of the digestive tract.
3. Leiomyomas: These are benign tumors that develop from smooth muscle cells in the stomach wall.
4. Lipomas: These are benign tumors that develop from fat cells in the stomach wall.
5. Neuroendocrine tumors (NETs): These are tumors that develop from the neuroendocrine cells in the stomach lining. They can be benign or malignant.
6. Gastric carcinomas: These are malignant tumors that develop from the glandular cells in the stomach lining. They are the most common type of stomach neoplasm and include adenocarcinomas, signet ring cell carcinomas, and others.
7. Lymphomas: These are malignant tumors that develop from the immune cells in the stomach wall.

Stomach neoplasms can cause various symptoms such as abdominal pain, nausea, vomiting, weight loss, and difficulty swallowing. The diagnosis of stomach neoplasms usually involves a combination of imaging tests, endoscopy, and biopsy. Treatment options depend on the type and stage of the neoplasm and may include surgery, chemotherapy, radiation therapy, or targeted therapy.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

Cell proliferation is the process by which cells increase in number, typically through the process of cell division. In the context of biology and medicine, it refers to the reproduction of cells that makes up living tissue, allowing growth, maintenance, and repair. It involves several stages including the transition from a phase of quiescence (G0 phase) to an active phase (G1 phase), DNA replication in the S phase, and mitosis or M phase, where the cell divides into two daughter cells.

Abnormal or uncontrolled cell proliferation is a characteristic feature of many diseases, including cancer, where deregulated cell cycle control leads to excessive and unregulated growth of cells, forming tumors that can invade surrounding tissues and metastasize to distant sites in the body.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Abdominal neoplasms refer to abnormal growths or tumors in the abdomen that can be benign (non-cancerous) or malignant (cancerous). These growths can occur in any of the organs within the abdominal cavity, including the stomach, small intestine, large intestine, liver, pancreas, spleen, and kidneys.

Abdominal neoplasms can cause various symptoms depending on their size, location, and type. Some common symptoms include abdominal pain or discomfort, bloating, changes in bowel habits, unexplained weight loss, fatigue, and fever. In some cases, abdominal neoplasms may not cause any symptoms until they have grown quite large or spread to other parts of the body.

The diagnosis of abdominal neoplasms typically involves a combination of physical exam, medical history, imaging studies such as CT scans or MRIs, and sometimes biopsy to confirm the type of tumor. Treatment options depend on the type, stage, and location of the neoplasm but may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches.

The gastric fundus is the upper, rounded portion of the stomach that lies above the level of the cardiac orifice and extends up to the left dome-shaped part of the diaphragm. It is the part of the stomach where food and liquids are first stored after entering through the esophagus. The gastric fundus contains parietal cells, which secrete hydrochloric acid, and chief cells, which produce pepsinogen, a precursor to the digestive enzyme pepsin. It is also the site where the hormone ghrelin is produced, which stimulates appetite.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Cell movement, also known as cell motility, refers to the ability of cells to move independently and change their location within tissue or inside the body. This process is essential for various biological functions, including embryonic development, wound healing, immune responses, and cancer metastasis.

There are several types of cell movement, including:

1. **Crawling or mesenchymal migration:** Cells move by extending and retracting protrusions called pseudopodia or filopodia, which contain actin filaments. This type of movement is common in fibroblasts, immune cells, and cancer cells during tissue invasion and metastasis.
2. **Amoeboid migration:** Cells move by changing their shape and squeezing through tight spaces without forming protrusions. This type of movement is often observed in white blood cells (leukocytes) as they migrate through the body to fight infections.
3. **Pseudopodial extension:** Cells extend pseudopodia, which are temporary cytoplasmic projections containing actin filaments. These protrusions help the cell explore its environment and move forward.
4. **Bacterial flagellar motion:** Bacteria use a whip-like structure called a flagellum to propel themselves through their environment. The rotation of the flagellum is driven by a molecular motor in the bacterial cell membrane.
5. **Ciliary and ependymal movement:** Ciliated cells, such as those lining the respiratory tract and fallopian tubes, have hair-like structures called cilia that beat in coordinated waves to move fluids or mucus across the cell surface.

Cell movement is regulated by a complex interplay of signaling pathways, cytoskeletal rearrangements, and adhesion molecules, which enable cells to respond to environmental cues and navigate through tissues.

Cecal neoplasms refer to abnormal growths in the cecum, which is the first part of the large intestine or colon. These growths can be benign (non-cancerous) or malignant (cancerous). Common types of cecal neoplasms include adenomas (benign tumors that can become cancerous over time), carcinoids (slow-growing tumors that usually don't spread), and adenocarcinomas (cancers that start in the glands that line the inside of the cecum).

Symptoms of cecal neoplasms may include changes in bowel habits, such as diarrhea or constipation; abdominal pain or cramping; blood in the stool; and unexplained weight loss. Treatment options depend on the type and stage of the neoplasm but may include surgery, chemotherapy, radiation therapy, or a combination of these approaches. Regular screening is recommended for people at high risk for developing colorectal cancer, including those with a family history of the disease or certain genetic mutations.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Membrane proteins are a type of protein that are embedded in the lipid bilayer of biological membranes, such as the plasma membrane of cells or the inner membrane of mitochondria. These proteins play crucial roles in various cellular processes, including:

1. Cell-cell recognition and signaling
2. Transport of molecules across the membrane (selective permeability)
3. Enzymatic reactions at the membrane surface
4. Energy transduction and conversion
5. Mechanosensation and signal transduction

Membrane proteins can be classified into two main categories: integral membrane proteins, which are permanently associated with the lipid bilayer, and peripheral membrane proteins, which are temporarily or loosely attached to the membrane surface. Integral membrane proteins can further be divided into three subcategories based on their topology:

1. Transmembrane proteins, which span the entire width of the lipid bilayer with one or more alpha-helices or beta-barrels.
2. Lipid-anchored proteins, which are covalently attached to lipids in the membrane via a glycosylphosphatidylinositol (GPI) anchor or other lipid modifications.
3. Monotopic proteins, which are partially embedded in the membrane and have one or more domains exposed to either side of the bilayer.

Membrane proteins are essential for maintaining cellular homeostasis and are targets for various therapeutic interventions, including drug development and gene therapy. However, their structural complexity and hydrophobicity make them challenging to study using traditional biochemical methods, requiring specialized techniques such as X-ray crystallography, nuclear magnetic resonance (NMR) spectroscopy, and single-particle cryo-electron microscopy (cryo-EM).

Pulmonary adenomatosis is a rare condition that is characterized by the abnormal growth of benign tumors (adenomas) in the lungs. These tumors are made up of glands and can cause thickening and enlargement of the lung tissue, which can lead to symptoms such as coughing, wheezing, and difficulty breathing. In some cases, pulmonary adenomatosis may also be associated with an increased risk of lung cancer. It is important to note that this condition is different from adenocarcinoma, which is a type of lung cancer that can also arise in the glands of the lungs.

COS cells are a type of cell line that are commonly used in molecular biology and genetic research. The name "COS" is an acronym for "CV-1 in Origin," as these cells were originally derived from the African green monkey kidney cell line CV-1. COS cells have been modified through genetic engineering to express high levels of a protein called SV40 large T antigen, which allows them to efficiently take up and replicate exogenous DNA.

There are several different types of COS cells that are commonly used in research, including COS-1, COS-3, and COS-7 cells. These cells are widely used for the production of recombinant proteins, as well as for studies of gene expression, protein localization, and signal transduction.

It is important to note that while COS cells have been a valuable tool in scientific research, they are not without their limitations. For example, because they are derived from monkey kidney cells, there may be differences in the way that human genes are expressed or regulated in these cells compared to human cells. Additionally, because COS cells express SV40 large T antigen, they may have altered cell cycle regulation and other phenotypic changes that could affect experimental results. Therefore, it is important to carefully consider the choice of cell line when designing experiments and interpreting results.

According to the National Institutes of Health (NIH), stem cells are "initial cells" or "precursor cells" that have the ability to differentiate into many different cell types in the body. They can also divide without limit to replenish other cells for as long as the person or animal is still alive.

There are two main types of stem cells: embryonic stem cells, which come from human embryos, and adult stem cells, which are found in various tissues throughout the body. Embryonic stem cells have the ability to differentiate into all cell types in the body, while adult stem cells have more limited differentiation potential.

Stem cells play an essential role in the development and repair of various tissues and organs in the body. They are currently being studied for their potential use in the treatment of a wide range of diseases and conditions, including cancer, diabetes, heart disease, and neurological disorders. However, more research is needed to fully understand the properties and capabilities of these cells before they can be used safely and effectively in clinical settings.

Jejunal neoplasms refer to abnormal growths or tumors in the jejunum, which is the middle section of the small intestine. These neoplasms can be benign (non-cancerous) or malignant (cancerous). Malignant jejunal neoplasms are often aggressive and can spread to other parts of the body, making them potentially life-threatening.

There are several types of jejunal neoplasms, including:

1. Adenocarcinomas: These are cancerous tumors that develop from the glandular cells lining the jejunum. They are the most common type of jejunal neoplasm.
2. Carcinoid tumors: These are slow-growing neuroendocrine tumors that arise from the hormone-producing cells in the jejunum. While they are usually benign, some can become malignant and spread to other parts of the body.
3. Gastrointestinal stromal tumors (GISTs): These are rare tumors that develop from the connective tissue cells in the jejunum. They can be benign or malignant.
4. Lymphomas: These are cancerous tumors that develop from the immune system cells in the jejunum. They are less common than adenocarcinomas but can be aggressive and spread to other parts of the body.
5. Sarcomas: These are rare cancerous tumors that develop from the connective tissue cells in the jejunum. They can be aggressive and spread to other parts of the body.

Symptoms of jejunal neoplasms may include abdominal pain, bloating, diarrhea, weight loss, and bleeding in the stool. Treatment options depend on the type and stage of the neoplasm but may include surgery, chemotherapy, radiation therapy, or a combination of these approaches.

Protein transport, in the context of cellular biology, refers to the process by which proteins are actively moved from one location to another within or between cells. This is a crucial mechanism for maintaining proper cell function and regulation.

Intracellular protein transport involves the movement of proteins within a single cell. Proteins can be transported across membranes (such as the nuclear envelope, endoplasmic reticulum, Golgi apparatus, or plasma membrane) via specialized transport systems like vesicles and transport channels.

Intercellular protein transport refers to the movement of proteins from one cell to another, often facilitated by exocytosis (release of proteins in vesicles) and endocytosis (uptake of extracellular substances via membrane-bound vesicles). This is essential for communication between cells, immune response, and other physiological processes.

It's important to note that any disruption in protein transport can lead to various diseases, including neurological disorders, cancer, and metabolic conditions.

Cell polarity refers to the asymmetric distribution of membrane components, cytoskeleton, and organelles in a cell. This asymmetry is crucial for various cellular functions such as directed transport, cell division, and signal transduction. The plasma membrane of polarized cells exhibits distinct domains with unique protein and lipid compositions that define apical, basal, and lateral surfaces of the cell.

In epithelial cells, for example, the apical surface faces the lumen or external environment, while the basolateral surface interacts with other cells or the extracellular matrix. The establishment and maintenance of cell polarity are regulated by various factors including protein complexes, lipids, and small GTPases. Loss of cell polarity has been implicated in several diseases, including cancer and neurological disorders.

Sequence homology, amino acid, refers to the similarity in the order of amino acids in a protein or a portion of a protein between two or more species. This similarity can be used to infer evolutionary relationships and functional similarities between proteins. The higher the degree of sequence homology, the more likely it is that the proteins are related and have similar functions. Sequence homology can be determined through various methods such as pairwise alignment or multiple sequence alignment, which compare the sequences and calculate a score based on the number and type of matching amino acids.

"Drosophila" is a genus of small flies, also known as fruit flies. The most common species used in scientific research is "Drosophila melanogaster," which has been a valuable model organism for many areas of biological and medical research, including genetics, developmental biology, neurobiology, and aging.

The use of Drosophila as a model organism has led to numerous important discoveries in genetics and molecular biology, such as the identification of genes that are associated with human diseases like cancer, Parkinson's disease, and obesity. The short reproductive cycle, large number of offspring, and ease of genetic manipulation make Drosophila a powerful tool for studying complex biological processes.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Medical Definition of "Multiprotein Complexes" :

Multiprotein complexes are large molecular assemblies composed of two or more proteins that interact with each other to carry out specific cellular functions. These complexes can range from relatively simple dimers or trimers to massive structures containing hundreds of individual protein subunits. They are formed through a process known as protein-protein interaction, which is mediated by specialized regions on the protein surface called domains or motifs.

Multiprotein complexes play critical roles in many cellular processes, including signal transduction, gene regulation, DNA replication and repair, protein folding and degradation, and intracellular transport. The formation of these complexes is often dynamic and regulated in response to various stimuli, allowing for precise control of their function.

Disruption of multiprotein complexes can lead to a variety of diseases, including cancer, neurodegenerative disorders, and infectious diseases. Therefore, understanding the structure, composition, and regulation of these complexes is an important area of research in molecular biology and medicine.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

"Xenopus" is not a medical term, but it is a genus of highly invasive aquatic frogs native to sub-Saharan Africa. They are often used in scientific research, particularly in developmental biology and genetics. The most commonly studied species is Xenopus laevis, also known as the African clawed frog.

In a medical context, Xenopus might be mentioned when discussing their use in research or as a model organism to study various biological processes or diseases.

The ampulla of Vater, also known as hepatopancreatic ampulla, is a dilated portion of the common bile duct where it joins the main pancreatic duct and empties into the second part of the duodenum. It serves as a conduit for both bile from the liver and digestive enzymes from the pancreas to reach the small intestine, facilitating the digestion and absorption of nutrients. The ampulla of Vater is surrounded by a muscular sphincter, the sphincter of Oddi, which controls the flow of these secretions into the duodenum.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Hereditary Nonpolyposis Colorectal Neoplasms (HNPCC), also known as Lynch Syndrome, is a genetic disorder that significantly increases the risk of developing colorectal cancer and other types of cancer. It is characterized by the mutation in genes responsible for repairing mistakes in the DNA replication process, specifically the mismatch repair genes (MMR).

HNPCC is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. The syndrome is associated with the development of colorectal cancer at a younger age, usually before 50 years old, and often in the proximal colon. Individuals with HNPCC also have an increased risk for other cancers, including endometrial, stomach, small intestine, ovary, kidney, brain, and skin (sebaceous gland tumors).

Regular surveillance and screening are crucial for early detection and management of colorectal neoplasms in individuals with HNPCC. This typically includes colonoscopies starting at a younger age and performed more frequently than in the general population. Genetic counseling and testing may also be recommended for family members who may have inherited the mutated gene.

Isoenzymes, also known as isoforms, are multiple forms of an enzyme that catalyze the same chemical reaction but differ in their amino acid sequence, structure, and/or kinetic properties. They are encoded by different genes or alternative splicing of the same gene. Isoenzymes can be found in various tissues and organs, and they play a crucial role in biological processes such as metabolism, detoxification, and cell signaling. Measurement of isoenzyme levels in body fluids (such as blood) can provide valuable diagnostic information for certain medical conditions, including tissue damage, inflammation, and various diseases.

... (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ... The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and ... Rosenberg MM, Yang F, Giovanni M, Mohn JL, Temburni MK, Jacob MH (June 2008). "Adenomatous polyposis coli plays a key role, in ... NIH/UW entry on APC-Associated Polyposis Conditions OMIM entries on APC-Associated Polyposis Conditions Adenomatous+Polyposis+ ...
PLAG1 Adenomatous polyposis coli; 175100; APC Adenosine deaminase deficiency, partial; 102700; ADA Adenosine triphosphate, ... GPR56 Polyposis syndrome, hereditary mixed, 2; 610069; BMPR1A Polyposis, juvenile intestinal; 174900; BMPR1A Polyposis, ... OPN1SW Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; 132600; MUTYH Colorectal cancer; 114500; ... AHI1 Juvenile polyposis syndrome, infantile form; 174900; BMPR1A Juvenile polyposis/hereditary hemorrhagic telangiectasia ...
The APC is a tumour suppressor gene responsible for the production of adenomatous polyposis coli (APC), a large multifunction ... Familial adenomatous polyposis at NLM Genetics Home Reference Familial Adenomatous Polyposis-eMedicine Gastroenterology Colon, ... Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition in which numerous adenomatous polyps form ... The third variant, autosomal recessive familial adenomatous polyposis or MUTYH-associated polyposis, is also milder and, as its ...
Ikeda S, Kishida M, Matsuura Y, Usui H, Kikuchi A (2000). "GSK-3beta-dependent phosphorylation of adenomatous polyposis coli ... Spink KE, Polakis P, Weis WI (2000). "Structural basis of the Axin-adenomatous polyposis coli interaction". EMBO J. 19 (10): ... Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ... Adenomatous polyposis coli, CREB-binding protein/(CBP) and might be affected in similar ways by missense mutations of their ...
Regulation of caspase expression and apoptosis by adenomatous polyposis coli. Cancer Research. 2003 Aug 1;63(15):4368-74. PMID ...
For instance, point mutations in Adenomatous Polyposis Coli promote tumorigenesis. A novel assay, Fast parallel proteolysis ( ...
Aoki K, Taketo MM (October 2007). "Adenomatous polyposis coli (APC): a multi-functional tumor suppressor gene". Journal of Cell ... Familial adenomatous polyposis (FAP) is a familial cancer syndrome caused by mutations in the APC gene. In FAP, adenomatous ... Galiatsatos P, Foulkes WD (February 2006). "Familial adenomatous polyposis". The American Journal of Gastroenterology. 101 (2 ... Bannayan-Riley-Ruvalcaba syndrome is a congenital disorder characterized by hamartomatous intestinal polyposis, macrocephaly, ...
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (April 2001). "A role for the Adenomatous Polyposis Coli ...
Kaplan KB, Burds AA, Swedlow JR, Bekir SS, Sorger PK, Näthke IS (April 2001). "A role for the Adenomatous Polyposis Coli ... cancer adenomatous polyposis osteosarcoma familial breast cancer glioblastoma cervicitis lung cancer carcinoma Coli polyposis ...
1991). "Identification and characterization of the familial adenomatous polyposis coli gene". Cell. 66 (3): 589-600. doi: ... Familial Adenomatous Polyposis (FAP) is a hereditary disease that is characterized with development of numerous colon polyps. A ... 1999). "Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene". EMBO J. 18 (21): 5931-42. doi: ... 1998). "Enhanced intestinal adenomatous polyp formation in Pms2-/-;Min mice". Cancer Res. 58 (6): 1087-9. PMID 9515784. Engle ...
Chang YS, Lin CY, Yang SF, Ho CM, Chang JG (2016-03-28). "Analysing the mutational status of adenomatous polyposis coli (APC) ... January 1999). "Familial adenomatous polyposis-associated thyroid cancer: a clinical, pathological, and molecular genetics ... 1998). "Transcript dosage effect in familial adenomatous polyposis: model offered by two kindreds with exon 9 APC gene ... in both neoplastic and non-neoplastic samples from persons with hereditary non-polyposis colorectal cancer. Human accelerated ...
Although one molecule of axin only contains a single β-catenin recruitment motif, its partner the Adenomatous Polyposis Coli ( ... Through its N-terminal regulator of G-protein signaling (RGS) domain, it recruits the adenomatous polyposis coli (APC) protein ... "Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin ... and in particular by the adenomatous polyposis coli (APC) protein, encoded by the tumour-suppressing APC gene. Therefore, ...
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. ...
"Association and regulation of casein kinase 2 activity by adenomatous polyposis coli protein". Proc. Natl. Acad. Sci. U.S.A. 99 ...
"Haploinsufficiency of Krüppel-like factor 4 promotes adenomatous polyposis coli dependent intestinal tumorigenesis". Cancer ...
Rubinfeld B, Tice DA, Polakis P (2001). "Axin-dependent phosphorylation of the adenomatous polyposis coli protein mediated by ...
Berrueta L, Kraeft SK, Tirnauer JS, Schuyler SC, Chen LB, Hill DE, Pellman D, Bierer BE (1998). "The adenomatous polyposis coli ... The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene ... a new member of the adenomatous polyposis coli-binding EB1-like gene family, is differentially expressed in activated T cells ...
2006). "Adenomatous polyposis coli (APC) is required for normal development of skin and thymus". PLOS Genet. 2 (9): e146. doi: ...
"A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene". Nucleic Acids Research. 19 (22): 6348. doi: ... a gene of the familial adenomatous polyposis (FAP) locus". Gene. 169 (2): 215-8. doi:10.1016/0378-1119(95)00827-6. PMID 8647449 ... August 1991). "Identification of deletion mutations and three new genes at the familial polyposis locus". Cell. 66 (3): 601-13 ... June 2006). "HCCR-1-interacting molecule "deleted in polyposis 1" plays a tumor-suppressor role in colon carcinogenesis". ...
2006). "Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus". PLOS Genet. 2 (9): e146. doi: ...
The protein encoded by this gene was first identified by its binding to the APC (Adenomatous polyposis coli) protein which is ... "The adenomatous polyposis coli-binding protein EB1 is associated with cytoplasmic and spindle microtubules". Proc. Natl. Acad. ...
July 2008). "Regulation of the adenomatous polyposis coli gene by the miR-135 family in colorectal cancer". Cancer Research. 68 ...
She is known for her work on the role of the adenomatous polyposis coli (APC) protein in colorectal cancer. Näthke grew up in ... Näthke, I. S.; Adams, C. L.; Polakis, P.; Sellin, J. H.; Nelson, W. J. (1996). "The adenomatous polyposis coli tumor suppressor ... In her postdoctoral work she established a link between the adenomatous polyposis coli (APC) tumor suppressor and cell movement ... Penman, George A.; Leung, Louie; Näthke, Inke S. (2005-10-15). "The adenomatous polyposis coli protein (APC) exists in two ...
APC is a tumour suppressor gene which is associated with the inherited disease adenomatous polyposis coli (APC). It is thought ...
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
"Siah-1 mediates a novel beta-catenin degradation pathway linking p53 to the adenomatous polyposis coli protein". Molecular Cell ...
It is also dependent on several microtubule-associated proteins such as EB1 and adenomatous polyposis coli (APC). Growth of ...
... p115 RhoGEF and the plus-ended microtubule binding tumor suppressor Adenomatous Polyposis Coli (APC). While the S1P-S1P2-Rho- ... "The tumor suppressor adenomatous polyposis coli controls the direction in which a cell extrudes from an epithelium". Molecular ...
... of the tumor suppressor protein adenomatous polyposis coli (APC). Its structure and its interaction with chromosome maintenance ...
Minde DP, Radli M, Forneris F, Maurice MM, Rüdiger SG (2013). "Large extent of disorder in Adenomatous Polyposis Coli offers a ... "Large extent of disorder in Adenomatous Polyposis Coli offers a strategy to guard Wnt signalling against point mutations". PLOS ... This destruction complex includes the following proteins: Axin, adenomatosis polyposis coli (APC), protein phosphatase 2A (PP2A ...
Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the ... The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and ... Rosenberg MM, Yang F, Giovanni M, Mohn JL, Temburni MK, Jacob MH (June 2008). "Adenomatous polyposis coli plays a key role, in ... NIH/UW entry on APC-Associated Polyposis Conditions OMIM entries on APC-Associated Polyposis Conditions Adenomatous+Polyposis+ ...
G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal ... These results indicated that MYH-associated polyposis (MAP) is present in about 20% of Italian FAP/AAPC patients, in whom no ...
Seminars and Events at the Research Institute of Molecular Pathology (IMP) and Vienna Biocenter (VBC).
Investigational Drugs with Clinical Trials for: Adenomatous Polyposis Coli. ⮩ Send this page by email. ✉ Email this page to a ... Adenomatous Polyposis Coli. Isoquinoline. Adenomatous Polyposis Coli. Exisulind. Adenomatous Polyposis Coli. >Drugname. > ...
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum ... Adenomatous familial polyposis. *Adenomatous familial polyposis syndrome. *Adenomatous polyposis coli. *Familial multiple ... Familial adenomatous polyposis can have different inheritance patterns.. When familial adenomatous polyposis results from ... A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been ...
Identification and characterization of a novel adenomatous polyposis coli mutation in adult pancreatoblastoma. ... Keywords: next generation sequencing; variant of uncertain significance; pancreatoblastoma; adenomatous polyposis coli; Wnt/β- ... we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli (APC) gene. We also ... Although this patient did not have a history of familial adenomatous polyposis, functional analysis suggested the R1835G mutant ...
get connected to the best sources of Familial Adenomatous Polyposis information and support online, all for free. ... Chemoprevention Trial in Familial Adenomatous Polyposis (FAP) Coli Using EPA, rareHub - rareClinical - FAPvoice ... Guidelines for the Clinical Management of Familial Adenomatous Polyposis Familial adenomatous polyposis (FAP) is ... ... It is caused by a germline mutation in the Adenomatous Polyposis Coli (APC) gene located in the long arm of chromosome 5. To ...
Cells from patients with deletions in this region, in one case associated with polyposis in a family, have been used to ... These lines have been used to identify markers from the region of the polyposis gene obtained by cloning the ends of 0.5- to 2- ... Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage ... Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage ...
... is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early ... onset of hundreds to thousands of adenomatous polyps throughout the colon. ... and attenuated adenomatous polyposis coli (AAPC). Gardner syndrome is characterized by colonic polyposis typical of FAP, along ... Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited ...
Keywords: adenomatous polyposis coli, NF-κB, β-catenin, colon cancer. Received: July 30, 2015 Accepted: January 01, 2016 ... Adenomatous polyposis coli genotype-dependent toll-like receptor 4 activity in colon cancer. ... In the current study, we reported cell proliferation was elevated in adenomatous polyposis coli (APC) mutated- and APC ...
... gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer. APC is expressed in a wide ... Adenomatous Polyposis Coli, Adenomatous Polyposis Coli Protein, Colorectal Neoplasms, Cytoskeletal Proteins, Genes, APC, Humans ... Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of ... Mutations in the adenomatous polyposis coli (APC) ... The adenomatous polyposis coli (APC) tumour suppressor-- ...
Mutations of Apc will not only lead to familial adenomatous polyposis with associated epithelial lesions, but will also cause ... Adenomatous polyposis coli (Apc) is a tumor suppressor that inhibits Wnt/Ctnnb1. ... From: Mesenchymal adenomatous polyposis coli plays critical and diverse roles in regulating lung development ...
Adenomatous Polyposis Coli Protein / genetics* * Adult * Aged * Asian People / genetics* * Colorectal Neoplasms / diagnosis ...
Dive into the research topics of Proteomic profiling reveals the prognostic value of adenomatous polyposis coli-end-binding ... T1 - Proteomic profiling reveals the prognostic value of adenomatous polyposis coli-end-binding protein 1 in hepatocellular ... title = "Proteomic profiling reveals the prognostic value of adenomatous polyposis coli-end-binding protein 1 in hepatocellular ... Proteomic profiling reveals the prognostic value of adenomatous polyposis coli-end-binding protein 1 in hepatocellular ...
Protein: Hemoglobin subunit beta or Adenomatous polyposis coli protein. P. Optional. Public. Variants(s). Describe ...
Axin, a Negative Regulator of the Wnt Signaling Pathway, Directly Interacts With Adenomatous Polyposis Coli and Regulates the ... adenomatous polyposis coli; GSK-3β, glycogen synthase kinase 3β; TCF,T-cell factor; LEF, lymphoid enhancer factor; SUMO, Small ... This destructive complex include adenomatous polyposis coli (APC), glycogen synthase kinase 3β (GSK-3β), Axin, and casein ...
Familial adenomatous polyposis; APC: Adenomatous polyposis coli. ... coli)[16]. The major E. coli MMR proteins include MutS and MutL ... Lynch syndrome and MYH-associated polyposis: review and testing strategy. J Clin Gastroenterol. 2011;45:488-500. [PubMed] [DOI] ... The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424- ...
Hepatocellular adenoma in a male with familial adenomatous polyposis coli. J Hepatobiliary Pancreat Surg. 2009. 16(4):571-4. [ ... 17] Rarer HCA associations have been noted in familial adenomatous polyposis, [18] mature onset diabetes of the young (MODY) 3, ... by long-term administration of androgenic steroids for aplastic anemia in association with familial adenomatous polyposis. J ...
Cai SR, Zhang SZ and Zheng S: Detection of adenomatous polyposis coli gene mutations in 31 familial adenomatous polyposis ... Familial adenomatous polyposis or FAP, adenomatous polyposis coli gene or APC and Chinese. The eligible articles were ... A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli ... Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis. Zhonghua Yi Xue ...
APC: Adenomatous polyposis coli gene; ATM: Ataxia telangiectasia mutated gene; BRAF: Serine/threonine-protein kinase B-raf gene ... Escherichia coli. Upregulates the expression of CCSC-associated genes. Releases genotoxin colibactin which induces the ...
Annexin V-adenomatous polyposis coli (APC) apoptosis detection kit (88-8007; eBioscience, Antibodies, San Diego, CA, USA) was ...
Adenomatous Polyposis Coli Protein. Orner GA, Dashwood W-M, Blum CA, G Díaz D, Li Q, Al-Fageeh M, Tebbutt N, Heath JK, Ernst M ...
TMEM9-v-ATPase hyperactivates Wnt/β-catenin signalling via lysosomal degradation of adenomatous polyposis coli (APC). Moreover ... Adenomatous polyposis coli (APC) differentially regulates β-catenin phosphorylation and ubiquitination in colon cancer cells. J ... TMEM9-v-ATPase hyperactivates Wnt/β-catenin signalling via lysosomal degradation of adenomatous polyposis coli (APC). Moreover ...
Adenomatous Polyposis Coli Protein. Orner GA, Dashwood W-M, Blum CA, G Díaz D, Li Q, Al-Fageeh M, Tebbutt N, Heath JK, Ernst M ...
MUC1 can interact with adenomatous polyposis coli in breast cancer Christine L. Hattrup, Julia Fernandez-Rodriguez, Joyce A. ...
Familial adenomatous polyposis (FAP) is a hereditary syndrome that predisposes you to developing colon cancer. The lifetime ... Familial adenomatous polyposis is caused by a gene mutation. The gene is called adenomatous polyposis coli, or APC. Its a ... Familial Adenomatous Polyposis (FAP). Familial adenomatous polyposis (FAP) is a hereditary syndrome that raises your risk of ... What is familial adenomatous polyposis (FAP)?. Familial adenomatous polyposis is a genetic disorder that predisposes you to ...
MUC1 can interact with adenomatous polyposis coli in breast cancer Christine L. Hattrup, Julia Fernandez-Rodriguez, Joyce A. ... Binding of human enterotoxigenic Escherichia coli expressing coli surface antigen 6 to rabbit intestinal enterocytes and ... coli George M. H. Birchenough, Malin E V Johansson, R. A. Stabler, F. Dalgakiran, Gunnar C. Hansson, B. W. Wren, J. P. Luzio, P ... coli. George M. H. Birchenough, Malin E V Johansson, Richard A Stabler, Fatma Dalgakiran, Gunnar C. Hansson, Brendan W Wren, J ...
Adenomatous polyposis coli (APC)-independent regulation of beta-catenin degradation via a retinoid X receptor-mediated pathway ...
... localization of adenomatous polyposis coli to the basolateral membrane (Takizawa et al., 2006), and exocytosis (Audebert et al ... interacts with adenomatous polyposis coli. Genes Cells 11:453-464. ...
Familial Adenomatous Polyposis Coli-Pipeline Insights, 2015 *Ocular Pain-Pipeline Insights, 2015 ...
  • Familial adenomatous polyposis (FAP) is caused by an inherited, inactivating mutation in the APC gene. (wikipedia.org)
  • More than 800 mutations[citation needed] in the APC gene have been identified in families with classic and attenuated types of familial adenomatous polyposis. (wikipedia.org)
  • The most common mutation in familial adenomatous polyposis is a deletion of five bases in the APC gene. (wikipedia.org)
  • The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. (medlineplus.gov)
  • Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. (medlineplus.gov)
  • The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. (medlineplus.gov)
  • In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. (medlineplus.gov)
  • In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. (medlineplus.gov)
  • A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. (medlineplus.gov)
  • The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. (medlineplus.gov)
  • The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. (medlineplus.gov)
  • Mutations in the APC gene cause both classic and attenuated familial adenomatous polyposis. (medlineplus.gov)
  • Cell overgrowth resulting from mutations in the APC gene leads to the colon polyps seen in familial adenomatous polyposis. (medlineplus.gov)
  • Mutations in the MUTYH gene cause autosomal recessive familial adenomatous polyposis (also called MUTYH-associated polyposis). (medlineplus.gov)
  • Familial adenomatous polyposis can have different inheritance patterns. (medlineplus.gov)
  • Although this patient did not have a history of familial adenomatous polyposis, functional analysis suggested the R1835G mutant APC showed attenuated repression of Wnt/β-catenin signaling activity. (oncotarget.com)
  • a positively charged Familial Adenomatous Polyposis community. (fapvoice.com)
  • This purpose of this study is to investigate whether the number and size of rectal polyps can be reduced in patients with Familial Adenomatous Polyposis (FAP) by using a highly-purified form of a naturally occurring substance, the omega-3 fatty acid, eicosapentaenoic acid (EPA). (fapvoice.com)
  • Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome . (medscape.com)
  • Colectomy specimen obtained from a patient with familial adenomatous polyposis. (medscape.com)
  • Mutations in the adenomatous polyposis coli (APC) gene are the basis of familial adenomatous polyposis and the majority of sporadic colorectal cancer. (ox.ac.uk)
  • Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. (spandidos-publications.com)
  • Familial adenomatous polyposis (FAP) is an autosomal dominant inherited disorder with an incidence of approximately 3-10/100,000 ( 1 ). (spandidos-publications.com)
  • Familial adenomatous polyposis is a genetic disorder that predisposes you to develop precancerous colon polyps called adenomas . (clevelandclinic.org)
  • What is the estimated cancer risk with familial adenomatous polyposis? (clevelandclinic.org)
  • Familial adenomatous polyposis has a classic form and some less common forms that are considered subtypes. (clevelandclinic.org)
  • How common is familial adenomatous polyposis? (clevelandclinic.org)
  • Familial adenomatous polyposis is rare, estimated to affect about 1 in 8,000 people. (clevelandclinic.org)
  • They represent between 5% and 10% of all familial adenomatous polyposis cases. (clevelandclinic.org)
  • What's the difference between familial adenomatous polyposis (FAP) vs. Lynch syndrome? (clevelandclinic.org)
  • What are the signs and symptoms of familial adenomatous polyposis (FAP)? (clevelandclinic.org)
  • Turcot J, Desprks JP, St. Pierre F. Malignant tumors of the central nervous system associated with familial polyposis of the colon: Report of two cases. (benthamscience.com)
  • In this review, we focus of two of the best characterized syndromes, Lynch syndrome (LS) and familial adenomatous polyposis (FAP). (aacrjournals.org)
  • Of the cancer susceptibility syndromes affecting the gastrointestinal tract, the two best defined syndromes are Lynch syndrome (LS) and familial adenomatous polyposis (FAP). (aacrjournals.org)
  • Gardner's syndrome (GS), also known as familial colorectal polyposis, is an autosomal dominant disorder with equal sex distribution and a prevalence ranging from 1:8,300 to 1:16,000 births 1 . (bvsalud.org)
  • Adenomatous polyposis coli (APC) also known as deleted in polyposis 2.5 (DP2.5) is a protein that in humans is encoded by the APC gene. (wikipedia.org)
  • The (Adenomatous Polyposis Coli) APC protein normally builds a "destruction complex" with glycogen synthase kinase 3-alpha and or beta (GSK-3α/β) and Axin via interactions with the 20 AA and SAMP repeats. (wikipedia.org)
  • The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tumor suppressor gene. (nih.gov)
  • The adenomatous polyposis coli tumor suppressor protein is also implicated in beta-catenin signaling. (embl.de)
  • In the absence of Wnt signals, the cytoplasmic catenin beta-1 ( β-catenin ) is associated with a complex including auxin, glycogen synthase kinase 3 ( GSK-3 ), and adenomatous polyposis coli ( APC ) (the APC protein acts as the primary regulator of β-catenin function). (hindawi.com)
  • If such an agent were to be effective in FAP patients in the prevention of colonic polyps, it may also be of benefit to the larger population of patients with sporadic colorectal adenomatous polyps who are also at risk of colorectal cancer. (fapvoice.com)
  • It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. (medscape.com)
  • Note the presence of numerous synchronous adenomatous polyps lining the luminal surface. (medscape.com)
  • In considering the spectrum of polyposis syndromes, patients with multiple adenomatous polyps most likely have FAP (or one of its variants), AAPC, or MYH-associated polyposis (MAP). (medscape.com)
  • Ultimately, enough genetic events transpire that allow the adenomatous polyps to become malignant in patients with FAP. (medscape.com)
  • FAP is characterized by the presence of hundreds to thousands of adenomatous polyps in the colon and rectum, and is a disease predisposing individuals to colorectal cancer (CRC) ( 2 ). (spandidos-publications.com)
  • Loss of APC function results in increased level of β-catenin and activation of growth-promoting genes via the increased β-catenin/Tcf-4 transcription complexes, subsequently leading to the development of adenomatous colorectal polyps at a young age ( 9 ). (spandidos-publications.com)
  • Cancer develops from adenomatous colon polyps, which can appear in the hundreds to thousands. (clevelandclinic.org)
  • But if you have a hereditary polyposis syndrome like FAP, you'll develop many colon polyps - typically over a hundred - starting from a young age. (clevelandclinic.org)
  • Classic" FAP is characterized by more than 100 adenomatous polyps in your colon. (clevelandclinic.org)
  • Germline mutations in the tumor suppressor adenomatous polyposis coli gene (APC) on chromosome 5q22.2 are responsible for the most cases of FAP. (spandidos-publications.com)
  • In these roles, it binds to cadherins, Tcf-family transcription factors, and the tumor suppressor gene product Adenomatous Polyposis Coli (APC). (embl.de)
  • Constitutional PV's in the tumor suppressor gene adenomatous polyposis coli (APC) result in constitutive activation of the Wnt signaling pathway through deregulation of β-catenin, causing downstream effects on proliferation and differentiation within colonic crypts. (aacrjournals.org)
  • Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli ( APC ) gene. (oncotarget.com)
  • It is caused by a germline mutation in the Adenomatous Polyposis Coli (APC) gene located in the long arm of chromosome 5. (fapvoice.com)
  • CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli. (ox.ac.uk)
  • These lines have been used to identify markers from the region of the polyposis gene obtained by cloning the ends of 0.5- to 2-megabase BssHII fragments purified by pulsed-field gel electrophoresis. (ox.ac.uk)
  • The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli ( APC ) gene. (medscape.com)
  • Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome , some families with Turcot syndrome, and attenuated adenomatous polyposis coli (AAPC). (medscape.com)
  • If a patient with a suspected polyposis syndrome undergoes genetic testing and does not have an APC gene mutation, MYH gene testing should be performed to assess for MAP, as 10%-20% of patients who do not have an APC gene mutation have biallelic MYH gene mutations. (medscape.com)
  • Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. (spandidos-publications.com)
  • Reduction of intestinal neoplasia with adenomatous polyposis coli gene replacement and COX-2 inhibition is additive. (rochester.edu)
  • The adenomatous polyposis coli (APC) tumour suppressor--genetics, function and disease. (ox.ac.uk)
  • Adenomatous polyposis coli (APC), a dominantly inherited disorder, has been mapped to chromosome 5q15-q21 by family linkage studies. (ox.ac.uk)
  • Gardner syndrome is characterized by colonic polyposis typical of FAP, along with osteomas (bony growth most commonly on the skull and the mandible), dental abnormalities, and soft tissue tumors. (medscape.com)
  • Turcot syndrome is characterized by the colonic polyposis that is typical of FAP, along with central nervous system tumors (medulloblastoma). (medscape.com)
  • AI-Jishi M. Turcot's syndrome (glioma-polyposis). (benthamscience.com)
  • In addition, it was correlated with extra‑colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. (spandidos-publications.com)
  • Patients who suffer from FAP also have increased risk of extra-colonic manifestations, including duodenal polyposis, sebaceous cysts, congenital hypertrophy of the retinal pigment epithelium (CHRPE) and tumors in the upper gastrointestinal tract, thyroid gland and brain ( 5 , 6 ). (spandidos-publications.com)
  • These results indicated that MYH-associated polyposis (MAP) is present in about 20% of Italian FAP/AAPC patients, in whom no germline APC mutation is detectable and showing a family history compatible with recessive inheritance, and in a small fraction of patients with colorectal adenomas in the general population. (nih.gov)
  • Cells from patients with deletions in this region, in one case associated with polyposis in a family, have been used to construct human hamster hybrid cell lines that retain either the normal or deleted chromosome 5. (ox.ac.uk)
  • In the current study, we reported cell proliferation was elevated in adenomatous polyposis coli (APC) mutated- and APC knockdown cell lines, while the proliferation was inhibited in APC wild-type cell lines. (oncotarget.com)
  • Array comparative genomic hybridization (aCGH) identified a deletion of 5q22.1-q22.2 (Figure 3) encompassing the APC (adenomatous polyposis coli) tumor suppressor locus, mutations in which cause familial adenomatous polyposis (FAP). (medscape.com)
  • 2. Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis. (nih.gov)
  • 10. The most frequent APC mutations among Slovak familial adenomatous polyposis patients. (nih.gov)
  • 17. Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP). (nih.gov)
  • The FAP and HNPCC are caused due to mutations in the adenomatous polyposis coli (APC) and DNA mismatch repair (MMR) genes. (cdc.gov)
  • Gardner syndrome is characterized by colonic polyposis typical of FAP, along with osteomas (bony growth most commonly on the skull and the mandible), dental abnormalities, and soft tissue tumors. (medscape.com)
  • Turcot syndrome is characterized by the colonic polyposis that is typical of FAP, along with central nervous system tumors (medulloblastoma). (medscape.com)
  • Genetics of colonic polyposis. (ouhsc.edu)
  • Those that do occur are often related to genetic syndromes, especially familial adenomatous polyposis. (ispub.com)
  • The Role of Capsule Endoscopy in the Management of Pediatric Hereditary Polyposis Syndromes. (childrensmercy.org)
  • Not all polyposis syndromes are familial. (medscape.com)
  • Familial polyposis syndromes are divided into 2 major groups based on the presence of adenomas or hamartomas. (medscape.com)
  • the familial hamartomatous polyposis syndromes include Peutz-Jeghers syndrome and juvenile polyposis. (medscape.com)
  • Although intestinal polyposis syndromes are relatively rare, awareness of the existing health risks is important for patients and their families affected by these disorders. (medscape.com)
  • Intestinal polyposis syndromes can be divided, based on histology, into the broad categories of familial adenomatous polyposis (FAP) , hamartomatous polyposis syndromes, and other rare polyposis syndromes, such as hereditary-mixed polyposis syndrome (HMPS) and serrated polyposis syndrome (SPS). (medscape.com)
  • The broad category of hamartomatous polyposis syndromes encompasses several syndromes, mainly Peutz-Jeghers Syndrome (PJS) , PTEN -associated hamartomatous syndromes (including Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome [BRR]), familial juvenile polyposis, and Cronkhite-Canada syndrome . (medscape.com)
  • In addition to the development of intestinal polyposis and colorectal adenocarcinoma, which are key features of Gardner's syndrome, Gardner's syndrome also exhibits extra-colonic presentation of the familial adenomatous polyposis syndrome, which include dental abnormalities, osteomas, soft-tissue tumors (including desmoid tumors) and epidermoid cysts ( 1 , 2 ). (spandidos-publications.com)
  • Genetic susceptibility ranges from a well-defined inherited syndrome e.g. familial adenomatous polyposis and some of the benign neoplasms like adenoma carry a high risk of the malignancy and act as precursor lesion for colorectal carcinoma and tubular adenoma was the most common benign tumour of our study. (ispub.com)
  • The main inherited colorectal cancers are the familial adenomatous polyposis (FAP) and the hereditary nonpolyposis colorectal cancers (HNPCC). (cdc.gov)
  • The specimens consisted of 40 predominantly early-stage adenomas from 7 patients with familial adenomatous polyposis, 40 adenomas (19 without associated foci of carcinoma and 21 with such foci) from 33 patients without familial polyposis, and 92 carcinomas resected from 89 patients. (nih.gov)
  • 19. Familial adenomatous polyposis associated with multiple adrenal adenomas in a patient with a rare 3' APC mutation. (nih.gov)
  • We performed transcriptome profiling of colorectal adenomas from FAP patients and the polyposis in rat colon (Pirc) preclinical model, and prioritized molecular targets for prevention studies in vivo. (houstonmethodist.org)
  • Adenomatous Polyposis Coli" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
  • The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. (medlineplus.gov)
  • Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. (medlineplus.gov)
  • In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. (medlineplus.gov)
  • The reported incidence of familial adenomatous polyposis varies from 1 in 7,000 to 1 in 22,000 individuals. (medlineplus.gov)
  • My laboratory focuses on a tumor suppressor called Adenomatous Polyposis Coli (APC) in the development and progression of cancer. (iu.edu)
  • Familial adenomatous polyposis can have different inheritance patterns. (medlineplus.gov)
  • 1 However, the West Midlands Polyposis Registry contains a number of less well clinically defined colorectal cancer patients, in which a familial inheritance of colorectal cancer exists in the absence of the usual pathognomonic features of FAP. (bmj.com)
  • 5. Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. (nih.gov)
  • 6. [Familial adenomatous polyposis: establishing a registry and genetic and molecular analysis]. (nih.gov)
  • 7. The genetic background of familial adenomatous polyposis. (nih.gov)
  • Quantitative adenomatous polyposis coli promoter methylation analysis in tumor tissue, serum, and plasma DNA of patients with lung cancer. (nih.gov)
  • Adenomatous polyposis coli) in eight out of ten patients. (sanger.ac.uk)
  • Intervention strategies in familial adenomatous polyposis (FAP) patients and other high-risk colorectal cancer (CRC) populations have highlighted a critical need for endoscopy combined with safe and effective preventive agents. (houstonmethodist.org)
  • The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years. (medlineplus.gov)
  • Colectomy specimen obtained from a patient with familial adenomatous polyposis. (medscape.com)
  • Using this information, we could successfully make presymptomatic diagnosis of all the at-risk individuals in 2 Korean familial adenomatous polyposis(FAP) families. (e-crt.org)
  • 11. Preliminary results of the molecular diagnosis of familial adenomatous polyposis in Cuban families. (nih.gov)
  • 13. [Familial adenomatous polyposis coli in the Czech population. (nih.gov)
  • A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. (medlineplus.gov)