Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.
An E3 UBIQUITIN LIGASE that plays a key role in the DNA damage response pathway of FANCONI ANEMIA PROTEINS. It is associated with mono-ubiquitination of FANCD2 PROTEIN and the redistribution of FANCD2 to nuclear foci containing BRCA1 PROTEIN.
A reduction in the number of circulating ERYTHROCYTES or in the quantity of HEMOGLOBIN.
A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.
A Fanconi anemia complementation group protein that interacts with FANCC PROTEIN and FANCD2 PROTEIN. It promotes the accumulation of FANCC protein in the CELL NUCLEUS.
An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.
A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
Reagents with two reactive groups, usually at opposite ends of the molecule, that are capable of reacting with and thereby forming bridges between side chains of amino acids in proteins; the locations of naturally reactive areas within proteins can thereby be identified; may also be used for other macromolecules, like glycoproteins, nucleic acids, or other.
Irradiation of one half or both halves of the body in the treatment of disseminated cancer or widespread metastases. It is used to treat diffuse metastases in one session as opposed to multiple fields over an extended period. The more frequent treatment modalities are upper hemibody irradiation (UHBI) or lower hemibody irradiation (LHBI). Less common is mid-body irradiation (MBI). In the treatment of both halves of the body sequentially, hemibody irradiation permits radiotherapy of the whole body with larger doses of radiation than could be accomplished with WHOLE-BODY IRRADIATION. It is sometimes called "systemic" hemibody irradiation with reference to its use in widespread cancer or metastases. (P. Rubin et al. Cancer, Vol 55, p2210, 1985)
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
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.
Acquired hemolytic anemia due to the presence of AUTOANTIBODIES which agglutinate or lyse the patient's own RED BLOOD CELLS.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
Bone marrow diseases, also known as hematologic or blood disorders, refer to conditions that affect the production and function of blood cells within the bone marrow, such as leukemia, lymphoma, myeloma, and aplastic anemia, potentially leading to complications like anemia, neutropenia, thrombocytopenia, and increased susceptibility to infections or bleeding.
Anemia characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte, i.e., the mean corpuscular hemoglobin concentration is less than normal. The individual cells contain less hemoglobin than they could have under optimal conditions. Hypochromic anemia may be caused by iron deficiency from a low iron intake, diminished iron absorption, or excessive iron loss. It can also be caused by infections or other diseases, therapeutic drugs, lead poisoning, and other conditions. (Stedman, 25th ed; from Miale, Laboratory Medicine: Hematology, 6th ed, p393)
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Members of the peptidase C19 family which regulate signal transduction by removing UBIQUITIN from specific protein substrates via a process known as deubiquitination or deubiquitylation.
Anemia characterized by larger than normal erythrocytes, increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
A megaloblastic anemia occurring in children but more commonly in later life, characterized by histamine-fast achlorhydria, in which the laboratory and clinical manifestations are based on malabsorption of vitamin B 12 due to a failure of the gastric mucosa to secrete adequate and potent intrinsic factor. (Dorland, 27th ed)
Organic compounds that include a cyclic ether with three ring atoms in their structure. They are commonly used as precursors for POLYMERS such as EPOXY RESINS.
The act of ligating UBIQUITINS to PROTEINS to form ubiquitin-protein ligase complexes to label proteins for transport to the PROTEASOME ENDOPEPTIDASE COMPLEX where proteolysis occurs.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
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.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.
A rare congenital hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, occasional neutropenia or thrombocytosis, a normocellular bone marrow with erythroid hypoplasia, and an increased risk of developing leukemia. (Curr Opin Hematol 2000 Mar;7(2):85-94)
A highly conserved 76-amino acid peptide universally found in eukaryotic cells that functions as a marker for intracellular PROTEIN TRANSPORT and degradation. Ubiquitin becomes activated through a series of complicated steps and forms an isopeptide bond to lysine residues of specific proteins within the cell. These "ubiquitinated" proteins can be recognized and degraded by proteosomes or be transported to specific compartments within the cell.
Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
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.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
An exchange of DNA between matching or similar sequences.
A broad category of enzymes that are involved in the process of GENETIC RECOMBINATION.
A disorder characterized by the presence of ANEMIA, abnormally large red blood cells (megalocytes or macrocytes), and MEGALOBLASTS.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
Ethnic group originating in India and entering Europe in the 14th or 15th century.
A species of LENTIVIRUS, subgenus equine lentiviruses (LENTIVIRUSES, EQUINE), causing acute and chronic infection in horses. It is transmitted mechanically by biting flies, mosquitoes, and midges, and iatrogenically through unsterilized equipment. Chronic infection often consists of acute episodes with remissions.
The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.
A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy.
Established cell cultures that have the potential to propagate indefinitely.
Progenitor cells from which all blood cells derive.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
A large superfamily of transcription factors that contain a region rich in BASIC AMINO ACID residues followed by a LEUCINE ZIPPER domain.
Deficiency of all three cell elements of the blood, erythrocytes, leukocytes and platelets.
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
Pigmenting photosensitizing agent obtained from several plants, mainly Psoralea corylifolia. It is administered either topically or orally in conjunction with ultraviolet light in the treatment of vitiligo.
Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.
Compounds that inhibit cell production of DNA or RNA.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
A naturally occurring furocoumarin compound found in several species of plants, including Psoralea corylifolia. It is a photoactive substance that forms DNA ADDUCTS in the presence of ultraviolet A irradiation.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Hemolytic anemia due to various intrinsic defects of the erythrocyte.
The process by which a DNA molecule is duplicated.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions.
Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE.
Glycoprotein hormone, secreted chiefly by the KIDNEY in the adult and the LIVER in the FETUS, that acts on erythroid stem cells of the BONE MARROW to stimulate proliferation and differentiation.
Highly reactive chemicals that introduce alkyl radicals into biologically active molecules and thereby prevent their proper functioning. Many are used as antineoplastic agents, but most are very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. They have also been used as components in poison gases.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
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.
A naturally occurring furocoumarin, found in PSORALEA. After photoactivation with UV radiation, it binds DNA via single and double-stranded cross-linking.
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.

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. (1/692)

Fanconi anaemia (FA) is a genetically heterogeneous autosomal recessive disorder associated with chromosomal fragility, bone-marrow failure, congenital abnormalities and cancer. The gene for complementation group A (FAA), which accounts for 60-65% of all cases, has been cloned, and is composed of an open reading frame of 4.3 kb, which is distributed among 43 exons. We have investigated the molecular pathology of FA by screening the FAA gene for mutations in a panel of 90 patients identified by the European FA research group, EUFAR. A highly heterogeneous spectrum of mutations was identified, with 31 different mutations being detected in 34 patients. The mutations were scattered throughout the gene, and most are likely to result in the absence of the FAA protein. A surprisingly high frequency of intragenic deletions was detected, which removed between 1 and 30 exons from the gene. Most microdeletions and insertions occurred at homopolymeric tracts or direct repeats within the coding sequence. These features have not been observed in the other FA gene which has been cloned to date (FAC) and may be indicative of a higher mutation rate in FAA. This would explain why FA group A is much more common than the other complementation groups. The heterogeneity of the mutation spectrum and the frequency of intragenic deletions present a considerable challenge for the molecular diagnosis of FA. A scan of the entire coding sequence of the FAA gene may be required to detect the causative mutations, and scanning protocols will have to include methods which will detect the deletions in compound heterozygotes.  (+info)

The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. (2/692)

Fanconi anemia (FA) is a genetically heterogeneous autosomal recessive disease with bone marrow failure and predisposition to cancer as major features, often accompanied by developmental anomalies. The cells of patients with FA are hypersensitive to DNA cross-linking agents in terms of cell survival and chromosomal breakage. Of the eight complementation groups (FA-A to FA-H) distinguished thus far by cell fusion studies, the genes for three-FANCA, FANCC, and FANCG-have been identified, and the FANCD gene has been localized to chromosome 3p22-26. We report here the use of homozygosity mapping and genetic linkage analysis to map a fifth distinct genetic locus for FA. DNA from three families was assigned to group FA-E by cell fusion and complementation analysis and was then used to localize the FANCE gene to chromosome 6p21-22 in an 18.2-cM region flanked by markers D6S422 and D6S1610. This study shows that data from even a small number of families can be successfully used to map a gene for a genetically heterogeneous disorder.  (+info)

Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex. (3/692)

Fanconi anemia (FA) is an autosomal recessive cancer susceptibility syndrome with at least eight complementation groups (A to H). Three FA genes, corresponding to complementation groups A, C, and G, have been cloned, but their cellular function remains unknown. We have previously demonstrated that the FANCA and FANCC proteins interact and form a nuclear complex in normal cells, suggesting that the proteins cooperate in a nuclear function. In this report, we demonstrate that the recently cloned FANCG/XRCC9 protein is required for binding of the FANCA and FANCC proteins. Moreover, the FANCG protein is a component of a nuclear protein complex containing FANCA and FANCC. The amino-terminal region of the FANCA protein is required for FANCG binding, FANCC binding, nuclear localization, and functional activity of the complex. Our results demonstrate that the three cloned FA proteins cooperate in a large multisubunit complex. Disruption of this complex results in the specific cellular and clinical phenotype common to most FA complementation groups.  (+info)

Loss of FancC function results in decreased hematopoietic stem cell repopulating ability. (4/692)

Fanconi anemia (FA) is a complex genetic disorder characterized by progressive bone marrow (BM) aplasia, chromosomal instability, and acquisition of malignancies, particularly myeloid leukemia. We used a murine model containing a disruption of the murine homologue of FANCC (FancC) to evaluate short- and long-term multilineage repopulating ability of FancC -/- cells in vivo. Competitive repopulation assays were conducted where "test" FancC -/- or FancC +/+ BM cells (expressing CD45.2) were cotransplanted with congenic competitor cells (expressing CD45.1) into irradiated mice. In two independent experiments, we determined that FancC -/- BM cells have a profound decrease in short-term, as well as long-term, multilineage repopulating ability. To determine quantitatively the relative production of progeny cells by each test cell population, we calculated test cell contribution to chimerism as compared with 1 x 10(5) competitor cells. We determined that FancC -/- cells have a 7-fold to 12-fold decrease in repopulating ability compared with FancC +/+ cells. These data indicate that loss of FancC function results in reduced in vivo repopulating ability of pluripotential hematopoietic stem cells, which may play a role in the development of the BM failure in FA patients. This model system provides a powerful tool for evaluation of experimental therapeutics on hematopoietic stem cell function.  (+info)

Expression of the Fanconi anemia group A gene (Fanca) during mouse embryogenesis. (5/692)

About 80% of all cases of Fanconi anemia (FA) can be accounted for by complementation groups A and C. To understand the relationship between these groups, we analyzed the expression pattern of the mouse FA group-A gene (Fanca) during embryogenesis and compared it with the known pattern of the group-C gene (Fancc). Northern analysis of RNA from mouse embryos at embryonic days 7, 11, 15, and 17 showed a predominant 4.5 kb band in all stages. By in situ hybridization, Fanca transcripts were found in the whisker follicles, teeth, brain, retina, kidney, liver, and limbs. There was also stage-specific variation in Fanca expression, particularly within the developing whiskers and the brain. Some tissues known to express Fancc (eg, gut) failed to show Fanca expression. These observations show that (1) Fanca is under both tissue- and stage-specific regulation in several tissues; (2) the expression pattern of Fanca is consistent with the phenotype of the human disease; and (3) Fanca expression is not necessarily coupled to that of Fancc. The presence of distinct tissue targets for FA genes suggests that some of the variability in the clinical phenotype can be attributed to the complementation group assignment.  (+info)

Interstrand cross-links induce DNA synthesis in damaged and undamaged plasmids in mammalian cell extracts. (6/692)

Mammalian cell extracts have been shown to carry out damage-specific DNA repair synthesis induced by a variety of lesions, including those created by UV and cisplatin. Here, we show that a single psoralen interstrand cross-link induces DNA synthesis in both the damaged plasmid and a second homologous unmodified plasmid coincubated in the extract. The presence of the second plasmid strongly stimulates repair synthesis in the cross-linked plasmid. Heterologous DNAs also stimulate repair synthesis to variable extents. Psoralen monoadducts and double-strand breaks do not induce repair synthesis in the unmodified plasmid, indicating that such incorporation is specific to interstrand cross-links. This induced repair synthesis is consistent with previous evidence indicating a recombinational mode of repair for interstrand cross-links. DNA synthesis is compromised in extracts from mutants (deficient in ERCC1, XPF, XRCC2, and XRCC3) which are all sensitive to DNA cross-linking agents but is normal in extracts from mutants (XP-A, XP-C, and XP-G) which are much less sensitive. Extracts from Fanconi anemia cells exhibit an intermediate to wild-type level of activity dependent upon the complementation group. The DNA synthesis deficit in ERCC1- and XPF-deficient extracts is restored by addition of purified ERCC1-XPF heterodimer. This system provides a biochemical assay for investigating mechanisms of interstrand cross-link repair and should also facilitate the identification and functional characterization of cellular proteins involved in repair of these lesions.  (+info)

Cyclophosphamide metabolism in children with Fanconi's anaemia. (7/692)

Although patients with Fanconi's anaemia (FA) exhibit a heightened sensitivity to DNA cross-linking agents, modified doses of CY continue to be used in their conditioning prior to BMT. We measured the pharmacokinetics and metabolism of CY in six children with FA using an established high performance thin layer chromatography technique. CY doses ranged between 5 and 20 mg/kg (median 10 mg/kg). The median CY clearance was 0.6 l/h/m2 (range 0.4-1.1 l/h/m2), t1/2 was 8.1 h (range 6.7-9.5 h) and volume of distribution was 0.19 l/kg (range 0.16-0.34 l/kg), respectively. These results contrast with those previously reported from a comparable group of non-FA children in whom the median CY clearance was 3.2 l/h/m2 (range 2-5 l/h/m2) (P = 0.035), t1/2 was 2.4 h (range 2-3.8 h) (P = 0.035) and volume of distribution 0.5 l/kg (range 0.26-0.95 l/kg) (NS). Unlike the control group in whom the presence of inactive metabolites of CY was common, metabolites could not be found in any FA patient. The enhanced sensitivity of children with FA to CY may in part result from altered drug metabolism.  (+info)

Delayed engraftment and mixed chimerism after HLA-identical sibling donor BMT in Fanconi anaemia. (8/692)

A 12-year-old girl with Fanconi anaemia (FA) received a bone marrow transplant from her HLA-identical brother following conditioning with cyclophosphamide (20 mg/kg), thoraco-abdominal radiation (TAI) (4 Gy) and equine anti-thymocyte globulin (ATG) (90 mg/kg). Engraftment was delayed and initially tenuous, and was followed by mixed chimerism (MC) over a follow-up period of 2 years. DNA analysis of engraftment was performed on whole peripheral blood and on separated granulocytes, B and T lymphocytes using PCR detection of CA tandem repeat polymorphisms. At 10 weeks post BMT, granulocytes were predominantly donor, but B and T lymphocytes recipient, in origin. Over the subsequent 90 weeks, granulocytes and B lymphocytes were donor-derived, whilst T cells showed persistent MC but with an increasing donor component. Marrow haemopoietic function (Hb, ANC and platelet count) improved gradually in parallel with a rise in the proportion of donor lymphocyte engraftment. We postulate that a population of recipient lymphocytes survived conditioning and in turn delayed the development of full donor chimerism. Although transient MC has been described after allogeneic BMT in FA, its association with delayed engraftment, and persistence for more than 1 year post BMT, has not been documented clearly.  (+info)

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

Fanconi anemia (FA) is a genetic disorder characterized by various developmental abnormalities, bone marrow failure, and increased risk of malignancies. It is caused by mutations in genes involved in the FA complementation group, which are responsible for repairing damaged DNA.

The FA complementation group proteins include FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, and FAAP100. These proteins work together to form the FA core complex, which is responsible for monoubiquitinating FANCD2 and FANCI in response to DNA damage. This modification allows for the recruitment of downstream effectors that facilitate DNA repair and maintain genomic stability.

Defects in any of these FA complementation group proteins can lead to Fanconi anemia, with varying clinical manifestations depending on the specific gene involved and the severity of the mutation.

Fanconi anemia complementation group C protein, also known as FANCC protein, is a component of the Fanconi anemia (FA) DNA repair pathway. This protein plays a critical role in protecting cells from oxidative stress and maintaining genomic stability. Mutations in the FANCC gene can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of cancer.

FANCC protein functions as part of a complex that includes other FA proteins, which work together to repair DNA damage caused by interstrand crosslinks (ICLs) - a type of DNA lesion that can lead to genomic instability and cancer. When the FA pathway is activated in response to ICLs, FANCC protein undergoes monoubiquitination, which allows it to interact with other proteins involved in DNA repair and chromatin remodeling.

Defects in the FANCC protein can result in impaired DNA repair and increased sensitivity to DNA-damaging agents, leading to the characteristic features of Fanconi anemia. Additionally, mutations in the FANCC gene have been associated with an increased risk of developing acute myeloid leukemia (AML) and other cancers.

Fanconi Anemia Complementation Group D2 Protein, also known as FANCD2 protein, is a key player in the Fanconi anemia (FA) pathway, which is a DNA repair pathway that helps to maintain genomic stability. The FA pathway is responsible for the repair of DNA interstrand cross-links (ICLs), which are harmful lesions that can lead to genomic instability and cancer.

FANCD2 protein is part of the E3 ubiquitin ligase complex that monoubiquitinates FANCI protein, forming a heterodimeric complex known as ID2. The monoubiquitination of FANCD2/FANCI is a critical step in the FA pathway and is required for the recruitment of downstream repair factors to the site of DNA damage.

Mutations in the gene that encodes FANCD2 protein can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Fanconi anemia complementation group A protein (FANCA) is a protein encoded by the FANCA gene in humans. It is a part of the Fanconi anemia (FA) pathway, which is a group of proteins that play a critical role in maintaining genomic stability and preventing cancer.

The FA pathway is involved in the repair of DNA interstrand crosslinks (ICLs), which are harmful lesions that can block replication and transcription of DNA. FANCA protein, along with other FA proteins, forms a complex called the "FA core complex" that monoubiquitinates another FA protein called FANCD2. This monoubiquitination event is essential for the recruitment of downstream repair factors to damaged DNA and restoration of normal DNA structure.

Mutations in the FANCA gene can lead to Fanconi anemia, a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies. It is caused by mutations in genes responsible for the repair of DNA damage. There are several complementation groups (A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P) in Fanconi anemia, based on the genetic defect and the protein it affects.

FA Complementation Group G Protein is also known as FANCG protein or FACA protein. It is a component of the FA/BRCA DNA repair pathway, which plays a crucial role in maintaining genomic stability by repairing DNA interstrand crosslinks (ICLs) and other forms of DNA damage. The FANCG protein functions as a bridge between the upstream FA complex and the downstream FANCD2/FANCI complex in this pathway.

Mutations in the FANCG gene can lead to Fanconi anemia Complementation Group G, which is characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies, similar to other FA complementation groups. The diagnosis of FA Complementation Group G typically involves genetic testing to identify mutations in the FANCG gene. Treatment may include hematopoietic stem cell transplantation, androgen therapy, and surveillance for malignancies.

Fanconi syndrome is a medical condition that affects the proximal tubules of the kidneys. These tubules are responsible for reabsorbing various substances, such as glucose, amino acids, and electrolytes, back into the bloodstream after they have been filtered through the kidneys.

In Fanconi syndrome, there is a defect in the reabsorption process, causing these substances to be lost in the urine instead. This can lead to a variety of symptoms, including:

* Polyuria (excessive urination)
* Polydipsia (excessive thirst)
* Dehydration
* Metabolic acidosis (an imbalance of acid and base in the body)
* Hypokalemia (low potassium levels)
* Hypophosphatemia (low phosphate levels)
* Vitamin D deficiency
* Rickets (softening and weakening of bones in children) or osteomalacia (softening of bones in adults)

Fanconi syndrome can be caused by a variety of underlying conditions, including genetic disorders, kidney diseases, drug toxicity, and heavy metal poisoning. Treatment typically involves addressing the underlying cause, as well as managing symptoms such as electrolyte imbalances and acid-base disturbances.

Fanconi anemia complementation group L protein, also known as FANCL protein, is a component of the E3 ubiquitin ligase complex that plays a critical role in the DNA damage response and the repair of damaged DNA. This protein is involved in the Fanconi anemia (FA) pathway, which is a group of proteins that help to protect cells from DNA damage, particularly interstrand crosslinks (ICLs).

FANCL is responsible for the monoubiquitination of the FANCD2 protein, which is a key step in the FA pathway. This modification allows FANCD2 to localize to sites of DNA damage and recruit other repair proteins to facilitate the repair process. Mutations in the gene that encodes FANCL can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer.

In summary, Fanconi anemia complementation group L protein is an essential component of the FA pathway that helps to protect cells from DNA damage and maintain genomic stability.

Anemia is a medical condition characterized by a lower than normal number of red blood cells or lower than normal levels of hemoglobin in the blood. Hemoglobin is an important protein in red blood cells that carries oxygen from the lungs to the rest of the body. Anemia can cause fatigue, weakness, shortness of breath, and a pale complexion because the body's tissues are not getting enough oxygen.

Anemia can be caused by various factors, including nutritional deficiencies (such as iron, vitamin B12, or folate deficiency), blood loss, chronic diseases (such as kidney disease or rheumatoid arthritis), inherited genetic disorders (such as sickle cell anemia or thalassemia), and certain medications.

There are different types of anemia, classified based on the underlying cause, size and shape of red blood cells, and the level of hemoglobin in the blood. Treatment for anemia depends on the underlying cause and may include dietary changes, supplements, medication, or blood transfusions.

Fanconi anemia complementation group F protein (FA-F) is a protein that is encoded by the FANCF gene in humans. It is a part of the Fanconi anemia (FA) pathway, which is a DNA damage response pathway that helps to protect genomic stability.

The FA pathway is involved in the repair of interstrand crosslinks (ICLs), which are a type of DNA damage that can cause genetic instability and lead to cancer. The FA-F protein is part of the E3 ubiquitin ligase complex, which includes FANCL, FANCB, and FANCC proteins, that ubiquitinate and degrade the FANCD2-FANCI heterodimer at ICLs.

Mutations in the FANCF gene can lead to Fanconi anemia, a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and increased risk of cancer. The FA-F protein is essential for the normal function of the FA pathway, and its dysfunction can result in genomic instability and predisposition to malignancy.

Fanconi anemia complementation group E protein, also known as FANCE protein, is a crucial component of the Fanconi anemia (FA) pathway, which is a DNA repair mechanism that helps to maintain genomic stability. The FA pathway is responsible for the repair of interstrand crosslinks (ICLs), a type of DNA damage that can lead to cell death or tumorigenesis if not properly repaired.

The FANCE protein is part of the E complex, which includes several other proteins including FANCA, FANCC, and FANCE. This complex plays a role in recognizing and initiating the repair of ICLs. Specifically, FANCE helps to recruit other FA proteins to the site of DNA damage and facilitates their assembly into a larger protein complex that can carry out the repair process.

Mutations in the gene that encodes the FANCE protein can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. Individuals with FA often require frequent blood transfusions and may eventually need a bone marrow transplant to survive. They also have an increased risk of developing various types of cancer, including leukemia and solid tumors.

Mitomycin is an antineoplastic antibiotic derived from Streptomyces caespitosus. It is primarily used in cancer chemotherapy, particularly in the treatment of various carcinomas including gastrointestinal tract malignancies and breast cancer. Mitomycin works by forming cross-links in DNA, thereby inhibiting its replication and transcription, which ultimately leads to cell death.

In addition to its systemic use, mitomycin is also used topically in ophthalmology for the treatment of certain eye conditions such as glaucoma and various ocular surface disorders. The topical application of mitomycin can help reduce scarring and fibrosis by inhibiting the proliferation of fibroblasts.

It's important to note that mitomycin has a narrow therapeutic index, meaning there is only a small range between an effective dose and a toxic one. Therefore, its use should be closely monitored to minimize side effects, which can include myelosuppression, mucositis, alopecia, and potential secondary malignancies.

Aplastic anemia is a medical condition characterized by pancytopenia (a decrease in all three types of blood cells: red blood cells, white blood cells, and platelets) due to the failure of bone marrow to produce new cells. It is called "aplastic" because the bone marrow becomes hypocellular or "aplastic," meaning it contains few or no blood-forming stem cells.

The condition can be acquired or inherited, with acquired aplastic anemia being more common. Acquired aplastic anemia can result from exposure to toxic chemicals, radiation, drugs, viral infections, or autoimmune disorders. Inherited forms of the disease include Fanconi anemia and dyskeratosis congenita.

Symptoms of aplastic anemia may include fatigue, weakness, shortness of breath, pale skin, easy bruising or bleeding, frequent infections, and fever. Treatment options for aplastic anemia depend on the severity of the condition and its underlying cause. They may include blood transfusions, immunosuppressive therapy, and stem cell transplantation.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Hemolytic anemia is a type of anemia that occurs when red blood cells are destroyed (hemolysis) faster than they can be produced. Red blood cells are essential for carrying oxygen throughout the body. When they are destroyed, hemoglobin and other cellular components are released into the bloodstream, which can lead to complications such as kidney damage and gallstones.

Hemolytic anemia can be inherited or acquired. Inherited forms of the condition may result from genetic defects that affect the structure or function of red blood cells. Acquired forms of hemolytic anemia can be caused by various factors, including infections, medications, autoimmune disorders, and certain medical conditions such as cancer or blood disorders.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, pale skin, jaundice (yellowing of the skin and eyes), dark urine, and a rapid heartbeat. Treatment for hemolytic anemia depends on the underlying cause and may include medications, blood transfusions, or surgery.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Cross-linking reagents are chemical agents that are used to create covalent bonds between two or more molecules, creating a network of interconnected molecules known as a cross-linked structure. In the context of medical and biological research, cross-linking reagents are often used to stabilize protein structures, study protein-protein interactions, and develop therapeutic agents.

Cross-linking reagents work by reacting with functional groups on adjacent molecules, such as amino groups (-NH2) or sulfhydryl groups (-SH), to form a covalent bond between them. This can help to stabilize protein structures and prevent them from unfolding or aggregating.

There are many different types of cross-linking reagents, each with its own specificity and reactivity. Some common examples include glutaraldehyde, formaldehyde, disuccinimidyl suberate (DSS), and bis(sulfosuccinimidyl) suberate (BS3). The choice of cross-linking reagent depends on the specific application and the properties of the molecules being cross-linked.

It is important to note that cross-linking reagents can also have unintended effects, such as modifying or disrupting the function of the proteins they are intended to stabilize. Therefore, it is essential to use them carefully and with appropriate controls to ensure accurate and reliable results.

Hemibody irradiation is a medical procedure that involves the delivery of a large dose of radiation to one half (hemi) of the body. This technique is used in palliative care for patients with advanced cancer, particularly hematologic malignancies such as lymphoma and leukemia, who have widespread disease involvement in a particular hemibody.

The procedure can help alleviate symptoms like pain, bleeding, and discomfort caused by the cancer. It is typically administered as a single treatment or in a few sessions, depending on the individual case and response to therapy. Potential side effects include nausea, vomiting, diarrhea, and decreased blood cell counts.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

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.

Hemolytic anemia, autoimmune is a type of anemia characterized by the premature destruction of red blood cells (RBCs) in which the immune system mistakenly attacks and destroys its own RBCs. This occurs when the body produces autoantibodies that bind to the surface of RBCs, leading to their rupture (hemolysis). The symptoms may include fatigue, weakness, shortness of breath, and dark colored urine. The diagnosis is made through blood tests that measure the number and size of RBCs, reticulocyte count, and the presence of autoantibodies. Treatment typically involves suppressing the immune system with medications such as corticosteroids or immunosuppressive drugs, and sometimes removal of the spleen (splenectomy) may be necessary.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Bone marrow diseases, also known as hematologic disorders, are conditions that affect the production and function of blood cells in the bone marrow. The bone marrow is the spongy tissue inside bones where all blood cells are produced. There are various types of bone marrow diseases, including:

1. Leukemia: A cancer of the blood-forming tissues, including the bone marrow. Leukemia causes the body to produce large numbers of abnormal white blood cells, which can crowd out healthy blood cells and impair their function.
2. Lymphoma: A cancer that starts in the lymphatic system, which is part of the immune system. Lymphoma can affect the bone marrow and cause an overproduction of abnormal white blood cells.
3. Multiple myeloma: A cancer of the plasma cells, a type of white blood cell found in the bone marrow. Multiple myeloma causes an overproduction of abnormal plasma cells, which can lead to bone pain, fractures, and other complications.
4. Aplastic anemia: A condition in which the bone marrow does not produce enough new blood cells. This can lead to symptoms such as fatigue, weakness, and an increased risk of infection.
5. Myelodysplastic syndromes (MDS): A group of disorders in which the bone marrow does not produce enough healthy blood cells. MDS can lead to anemia, infections, and bleeding.
6. Myeloproliferative neoplasms (MPNs): A group of disorders in which the bone marrow produces too many abnormal white or red blood cells, or platelets. MPNs can lead to symptoms such as fatigue, itching, and an increased risk of blood clots.

Treatment for bone marrow diseases depends on the specific condition and its severity. Treatment options may include chemotherapy, radiation therapy, stem cell transplantation, or targeted therapies that target specific genetic mutations.

Hypochromic anemia is a type of anemia characterized by the presence of red blood cells that have lower than normal levels of hemoglobin and appear paler in color than normal. Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. In hypochromic anemia, there may be a decrease in the production or increased destruction of red blood cells, leading to a reduced number of red blood cells and insufficient oxygen supply to the tissues.

Hypochromic anemia can result from various underlying medical conditions, including iron deficiency, thalassemia, chronic inflammation, lead poisoning, and certain infections or chronic diseases. Treatment for hypochromic anemia depends on the underlying cause and may include iron supplements, dietary changes, medications, or blood transfusions.

Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.

Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.

For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.

Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.

Ubiquitin-specific proteases (USPs) are a type of deubiquitinating enzymes (DUBs) that specifically cleave ubiquitin from proteins. Ubiquitination is a post-translational modification in which ubiquitin molecules are attached to proteins, targeting them for degradation by the proteasome. USPs reverse this process by removing ubiquitin molecules from proteins, thereby regulating protein stability, localization, and activity.

USPs contain a conserved catalytic domain that is responsible for the deubiquitinating activity. They are involved in various cellular processes, including DNA damage repair, gene expression regulation, inflammation, and immune response. Dysregulation of USP function has been implicated in several diseases, such as cancer, neurodegenerative disorders, and viral infections. Therefore, USPs are considered potential therapeutic targets for the development of drugs to treat these conditions.

Macrocytic anemia is a type of anemia in which the red blood cells are larger than normal in size (macrocytic). This condition can be caused by various factors such as deficiency of vitamin B12 or folate, alcohol abuse, certain medications, bone marrow disorders, and some inherited genetic conditions.

The large red blood cells may not function properly, leading to symptoms such as fatigue, weakness, shortness of breath, pale skin, and a rapid heartbeat. Macrocytic anemia can be diagnosed through a complete blood count (CBC) test, which measures the size and number of red blood cells in the blood.

Treatment for macrocytic anemia depends on the underlying cause. In cases of vitamin B12 or folate deficiency, supplements or dietary changes may be recommended. If the anemia is caused by medication, a different medication may be prescribed. In severe cases, blood transfusions or injections of vitamin B12 may be necessary.

BRCA2 (pronounced "braca two") protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA in cells. It is encoded by the BRCA2 gene, which is located on chromosome 13. Mutations in the BRCA2 gene have been associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer in women, and breast and prostate cancer in men.

The BRCA2 protein interacts with other proteins to repair double-strand breaks in DNA through a process called homologous recombination. When the BRCA2 protein is not functioning properly due to a mutation, damaged DNA may not be repaired correctly, leading to genetic instability and an increased risk of cancer.

It's important to note that not all people with BRCA2 mutations will develop cancer, but their risk is higher than those without the mutation. Genetic testing can identify individuals who have inherited a mutation in the BRCA2 gene and help guide medical management and screening recommendations.

Pernicious anemia is a specific type of vitamin B12 deficiency anemia that is caused by a lack of intrinsic factor, a protein made in the stomach that is needed to absorb vitamin B12. The absence of intrinsic factor leads to poor absorption of vitamin B12 from food and results in its deficiency.

Vitamin B12 is essential for the production of healthy red blood cells, which carry oxygen throughout the body. Without enough vitamin B12, the body cannot produce enough red blood cells, leading to anemia. Pernicious anemia typically develops slowly over several years and can cause symptoms such as fatigue, weakness, pale skin, shortness of breath, and a decreased appetite.

Pernicious anemia is an autoimmune disorder, which means that the body's immune system mistakenly attacks healthy cells in the stomach lining, leading to a loss of intrinsic factor production. It is more common in older adults, particularly those over 60 years old, and can also be associated with other autoimmune disorders such as type 1 diabetes, Hashimoto's thyroiditis, and Addison's disease.

Treatment for pernicious anemia typically involves vitamin B12 replacement therapy, either through oral supplements or injections of the vitamin. In some cases, dietary changes may also be recommended to ensure adequate intake of vitamin B12-rich foods such as meat, fish, poultry, and dairy products.

Epoxy compounds, also known as epoxy resins, are a type of thermosetting polymer characterized by the presence of epoxide groups in their molecular structure. An epoxide group is a chemical functional group consisting of an oxygen atom double-bonded to a carbon atom, which is itself bonded to another carbon atom.

Epoxy compounds are typically produced by reacting a mixture of epichlorohydrin and bisphenol-A or other similar chemicals under specific conditions. The resulting product is a two-part system consisting of a resin and a hardener, which must be mixed together before use.

Once the two parts are combined, a chemical reaction takes place that causes the mixture to cure or harden into a solid material. This curing process can be accelerated by heat, and once fully cured, epoxy compounds form a strong, durable, and chemically resistant material that is widely used in various industrial and commercial applications.

In the medical field, epoxy compounds are sometimes used as dental restorative materials or as adhesives for bonding medical devices or prosthetics. However, it's important to note that some people may have allergic reactions to certain components of epoxy compounds, so their use must be carefully evaluated and monitored in a medical context.

Ubiquitination is a post-translational modification process in which a ubiquitin protein is covalently attached to a target protein. This process plays a crucial role in regulating various cellular functions, including protein degradation, DNA repair, and signal transduction. The addition of ubiquitin can lead to different outcomes depending on the number and location of ubiquitin molecules attached to the target protein. Monoubiquitination (the attachment of a single ubiquitin molecule) or multiubiquitination (the attachment of multiple ubiquitin molecules) can mark proteins for degradation by the 26S proteasome, while specific types of ubiquitination (e.g., K63-linked polyubiquitination) can serve as a signal for nonproteolytic functions such as endocytosis, autophagy, or DNA repair. Ubiquitination is a highly regulated process that involves the coordinated action of three enzymes: E1 ubiquitin-activating enzyme, E2 ubiquitin-conjugating enzyme, and E3 ubiquitin ligase. Dysregulation of ubiquitination has been implicated in various diseases, including cancer, neurodegenerative disorders, and inflammatory conditions.

Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.

Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.

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.

A genetic complementation test is a laboratory procedure used in molecular genetics to determine whether two mutated genes can complement each other's function, indicating that they are located at different loci and represent separate alleles. This test involves introducing a normal or wild-type copy of one gene into a cell containing a mutant version of the same gene, and then observing whether the presence of the normal gene restores the normal function of the mutated gene. If the introduction of the normal gene results in the restoration of the normal phenotype, it suggests that the two genes are located at different loci and can complement each other's function. However, if the introduction of the normal gene does not restore the normal phenotype, it suggests that the two genes are located at the same locus and represent different alleles of the same gene. This test is commonly used to map genes and identify genetic interactions in a variety of organisms, including bacteria, yeast, and animals.

Sickle cell anemia is a genetic disorder that affects the hemoglobin in red blood cells. Hemoglobin is responsible for carrying oxygen throughout the body. In sickle cell anemia, the hemoglobin is abnormal and causes the red blood cells to take on a sickle shape, rather than the normal disc shape. These sickled cells are stiff and sticky, and they can block blood vessels, causing tissue damage and pain. They also die more quickly than normal red blood cells, leading to anemia.

People with sickle cell anemia often experience fatigue, chronic pain, and jaundice. They may also have a higher risk of infections and complications such as stroke, acute chest syndrome, and priapism. The disease is inherited from both parents, who must both be carriers of the sickle cell gene. It primarily affects people of African descent, but it can also affect people from other ethnic backgrounds.

There is no cure for sickle cell anemia, but treatments such as blood transfusions, medications to manage pain and prevent complications, and bone marrow transplantation can help improve quality of life for affected individuals. Regular medical care and monitoring are essential for managing the disease effectively.

Diamond-Blackfan anemia is a rare, congenital bone marrow failure disorder characterized by a decreased production of red blood cells (erythroblasts) in the bone marrow. This results in a reduced number of circulating red blood cells, leading to anemia and related symptoms such as fatigue, weakness, and pallor. The disorder is typically diagnosed in infancy or early childhood and can also be associated with physical abnormalities.

The exact cause of Diamond-Blackfan anemia is not fully understood, but it is believed to involve genetic mutations that affect the development and function of the bone marrow. In many cases, the disorder is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases may arise spontaneously due to new genetic mutations.

Treatment for Diamond-Blackfan anemia typically involves regular blood transfusions to maintain adequate red blood cell levels and alleviate symptoms. Corticosteroid therapy may also be used to stimulate red blood cell production in some cases. In severe or refractory cases, stem cell transplantation may be considered as a curative treatment option.

Ubiquitin is a small protein that is present in all eukaryotic cells and plays a crucial role in the regulation of various cellular processes, such as protein degradation, DNA repair, and stress response. It is involved in marking proteins for destruction by attaching to them, a process known as ubiquitination. This modification can target proteins for degradation by the proteasome, a large protein complex that breaks down unneeded or damaged proteins in the cell. Ubiquitin also has other functions, such as regulating the localization and activity of certain proteins. The ability of ubiquitin to modify many different proteins and play a role in multiple cellular processes makes it an essential player in maintaining cellular homeostasis.

Sideroblastic anemia is a type of anemia characterized by the presence of ringed sideroblasts in the bone marrow. Ringed sideroblasts are red blood cell precursors that have an abnormal amount of iron accumulated in their mitochondria, which forms a ring around the nucleus. This results in the production of abnormal hemoglobin and impaired oxygen transport.

Sideroblastic anemia can be classified as congenital or acquired. Congenital sideroblastic anemias are caused by genetic defects that affect heme synthesis or mitochondrial function, while acquired sideroblastic anemias are associated with various conditions such as myelodysplastic syndromes, chronic alcoholism, lead toxicity, and certain medications.

Symptoms of sideroblastic anemia may include fatigue, weakness, shortness of breath, and pallor. Diagnosis is typically made through a bone marrow aspiration and biopsy, which can identify the presence of ringed sideroblasts. Treatment depends on the underlying cause but may include iron chelation therapy, vitamin B6 supplementation, or blood transfusions.

Rad51 recombinase is a protein involved in the repair of double-stranded DNA breaks through homologous recombination, a process that helps maintain genomic stability. This protein forms a nucleoprotein filament on single-stranded DNA, facilitating the search for and invasion of homologous sequences in double-stranded DNA. Rad51 recombinase is highly conserved across various species, including humans, and plays a crucial role in preventing genetic disorders, cancer, and aging caused by DNA damage.

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.

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.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

BRCA1 protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA and maintaining genomic stability. The BRCA1 gene provides instructions for making this protein. Mutations in the BRCA1 gene can lead to impaired function of the BRCA1 protein, significantly increasing the risk of developing breast, ovarian, and other types of cancer.

The BRCA1 protein forms complexes with several other proteins to participate in various cellular processes, such as:

1. DNA damage response and repair: BRCA1 helps recognize and repair double-strand DNA breaks through homologous recombination, a precise error-free repair mechanism.
2. Cell cycle checkpoints: BRCA1 is involved in regulating the G1/S and G2/M cell cycle checkpoints to ensure proper DNA replication and cell division.
3. Transcription regulation: BRCA1 can act as a transcriptional co-regulator, influencing the expression of genes involved in various cellular processes, including DNA repair and cell cycle control.
4. Apoptosis: In cases of severe or irreparable DNA damage, BRCA1 helps trigger programmed cell death (apoptosis) to eliminate potentially cancerous cells.

Individuals with inherited mutations in the BRCA1 gene have a higher risk of developing breast and ovarian cancers compared to the general population. Genetic testing for BRCA1 mutations is available for individuals with a family history of these cancers or those who meet specific clinical criteria. Identifying carriers of BRCA1 mutations allows for enhanced cancer surveillance, risk reduction strategies, and potential targeted therapies.

Homologous recombination is a type of genetic recombination that occurs between two similar or identical (homologous) segments of DNA. It is a natural process that helps to maintain the stability of an organism's genome and plays a crucial role in DNA repair, particularly the repair of double-strand breaks.

In homologous recombination, the two DNA molecules exchange genetic information through a series of steps, including the formation of Holliday junctions, where the strands cross over and exchange partners. This process can result in new combinations of genetic material, which can increase genetic diversity and contribute to evolution.

Homologous recombination is also used in biotechnology and genetic engineering to introduce specific changes into DNA sequences or to create genetically modified organisms.

Recombinases are enzymes that catalyze the process of recombination between two or more DNA molecules by breaking and rejoining their strands. They play a crucial role in various biological processes such as DNA repair, genetic recombination during meiosis, and site-specific genetic modifications.

Recombinases recognize and bind to specific DNA sequences, called recognition sites or crossover sites, where they cleave the phosphodiester bonds of the DNA backbone, forming a Holliday junction intermediate. The recombinase then catalyzes the exchange of strands between the two DNA molecules at the junction and subsequently ligates the broken ends to form new phosphodiester bonds, resulting in the recombination of the DNA molecules.

There are several types of recombinases, including serine recombinases, tyrosine recombinases, and lambda integrase. These enzymes differ in their recognition sites, catalytic mechanisms, and biological functions. Recombinases have important applications in molecular biology and genetic engineering, such as generating targeted DNA deletions or insertions, constructing genetic circuits, and developing gene therapy strategies.

Megaloblastic anemia is a type of macrocytic anemia, which is characterized by the presence of large, structurally abnormal, and immature red blood cells called megaloblasts in the bone marrow. This condition arises due to impaired DNA synthesis during erythropoiesis (the process of red blood cell production), often as a result of deficiencies in vitamin B12 or folate, or from the use of certain medications that interfere with DNA synthesis.

The hallmark feature of megaloblastic anemia is the presence of megaloblasts in the bone marrow, which exhibit an asynchrony between nuclear and cytoplasmic maturation. This means that although the cytoplasm of these cells may appear well-developed, their nuclei remain underdeveloped and fragmented. As a result, the peripheral blood shows an increase in mean corpuscular volume (MCV), reflecting the larger size of the red blood cells.

Additional hematological findings include decreased reticulocyte counts, neutrophil hypersegmentation, and occasionally thrombocytopenia or leukopenia. Neurological symptoms may also be present due to the involvement of the nervous system in vitamin B12 deficiency.

Megaloblastic anemia is typically treated with supplementation of the deficient vitamin (B12 or folate), which helps restore normal erythropoiesis and alleviate symptoms over time.

DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.

During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.

DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.

I believe there may be some confusion in your question. "Gypsies" is a term often used to refer to the Romani people, who are an ethnic group with a unique language and culture. It's important to note that using the term "Gypsy" as a medical label or definition can be considered pejorative and disrespectful, as it has been historically associated with discrimination and negative stereotypes.

If you're asking for a medical definition related to Romani people, there isn't one, as they are an ethnic group and not a medical condition. However, if you have any specific medical concerns or conditions in mind, I would be happy to help provide a definition or explanation for those.

Equine Infectious Anemia (EIA) is a viral disease that affects horses and other equine animals. The causative agent of this disease is the Equine Infectious Anemia Virus (EIAV), which belongs to the family Retroviridae and genus Lentivirus. This virus is primarily transmitted through the transfer of infected blood, most commonly through biting insects such as horseflies and deerflies.

The EIAV attacks the immune system of the infected animal, causing a variety of symptoms including fever, weakness, weight loss, anemia, and edema. The virus has a unique ability to integrate its genetic material into the host's DNA, which can lead to a lifelong infection. Some animals may become chronic carriers of the virus, showing no signs of disease but remaining infectious to others.

There is currently no cure for EIA, and infected animals must be isolated to prevent the spread of the disease. Vaccines are available in some countries, but they do not provide complete protection against infection and may only help reduce the severity of the disease. Regular testing and monitoring of equine populations are essential to control the spread of this virus.

Hemoglobin (Hb or Hgb) is the main oxygen-carrying protein in the red blood cells, which are responsible for delivering oxygen throughout the body. It is a complex molecule made up of four globin proteins and four heme groups. Each heme group contains an iron atom that binds to one molecule of oxygen. Hemoglobin plays a crucial role in the transport of oxygen from the lungs to the body's tissues, and also helps to carry carbon dioxide back to the lungs for exhalation.

There are several types of hemoglobin present in the human body, including:

* Hemoglobin A (HbA): This is the most common type of hemoglobin, making up about 95-98% of total hemoglobin in adults. It consists of two alpha and two beta globin chains.
* Hemoglobin A2 (HbA2): This makes up about 1.5-3.5% of total hemoglobin in adults. It consists of two alpha and two delta globin chains.
* Hemoglobin F (HbF): This is the main type of hemoglobin present in fetal life, but it persists at low levels in adults. It consists of two alpha and two gamma globin chains.
* Hemoglobin S (HbS): This is an abnormal form of hemoglobin that can cause sickle cell disease when it occurs in the homozygous state (i.e., both copies of the gene are affected). It results from a single amino acid substitution in the beta globin chain.
* Hemoglobin C (HbC): This is another abnormal form of hemoglobin that can cause mild to moderate hemolytic anemia when it occurs in the homozygous state. It results from a different single amino acid substitution in the beta globin chain than HbS.

Abnormal forms of hemoglobin, such as HbS and HbC, can lead to various clinical disorders, including sickle cell disease, thalassemia, and other hemoglobinopathies.

Refractory anemia is a type of anemia that does not respond to typical treatments, such as iron supplements or hormonal therapy. It is often associated with various bone marrow disorders, including myelodysplastic syndromes (MDS), a group of conditions characterized by abnormal blood cell production in the bone marrow.

In refractory anemia, the bone marrow fails to produce enough healthy red blood cells, leading to symptoms such as fatigue, weakness, shortness of breath, and pale skin. The condition can be difficult to treat, and treatment options may include more aggressive therapies such as immunosuppressive drugs, chemotherapy, or stem cell transplantation.

It is important to note that the term "refractory" in this context refers specifically to the lack of response to initial treatments, rather than a specific severity or type of anemia.

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.

Hematopoietic stem cells (HSCs) are immature, self-renewing cells that give rise to all the mature blood and immune cells in the body. They are capable of both producing more hematopoietic stem cells (self-renewal) and differentiating into early progenitor cells that eventually develop into red blood cells, white blood cells, and platelets. HSCs are found in the bone marrow, umbilical cord blood, and peripheral blood. They have the ability to repair damaged tissues and offer significant therapeutic potential for treating various diseases, including hematological disorders, genetic diseases, and cancer.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Basic-leucine zipper (bZIP) transcription factors are a family of transcriptional regulatory proteins characterized by the presence of a basic region and a leucine zipper motif. The basic region, which is rich in basic amino acids such as lysine and arginine, is responsible for DNA binding, while the leucine zipper motif mediates protein-protein interactions and dimerization.

BZIP transcription factors play important roles in various cellular processes, including gene expression regulation, cell growth, differentiation, and stress response. They bind to specific DNA sequences called AP-1 sites, which are often found in the promoter regions of target genes. BZIP transcription factors can form homodimers or heterodimers with other bZIP proteins, allowing for combinatorial control of gene expression.

Examples of bZIP transcription factors include c-Jun, c-Fos, ATF (activating transcription factor), and CREB (cAMP response element-binding protein). Dysregulation of bZIP transcription factors has been implicated in various diseases, including cancer, inflammation, and neurodegenerative disorders.

Pancytopenia is a medical condition characterized by a reduction in the number of all three types of blood cells in the peripheral blood: red blood cells (anemia), white blood cells (leukopenia), and platelets (thrombocytopenia). This condition can be caused by various underlying diseases, including bone marrow disorders, viral infections, exposure to toxic substances or radiation, vitamin deficiencies, and certain medications. Symptoms of pancytopenia may include fatigue, weakness, increased susceptibility to infections, and easy bruising or bleeding.

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder characterized by extreme sensitivity to ionizing radiation, progressive microcephaly, short stature, immunodeficiency, and an increased risk of developing malignancies, particularly lymphoid tumors. The syndrome is caused by mutations in the NBN gene, which encodes a protein called nibrin that plays a critical role in DNA repair and maintenance of genomic stability.

Individuals with NBS typically have microcephaly at birth or develop it in early childhood, accompanied by developmental delay, intellectual disability, and characteristic facial features such as a prominent forehead, recessed jaw, and widely spaced eyes. They may also have skin abnormalities, skeletal anomalies, and hearing loss.

Immunodeficiency is a common feature of NBS, with patients often experiencing recurrent infections due to impaired immune function. They may have low levels of immunoglobulins and T-cell lymphopenia, which can increase their susceptibility to infections.

NBS is associated with an increased risk of malignancies, particularly lymphoid tumors such as B-cell non-Hodgkin lymphoma and leukemia. The risk of cancer increases with age, and most patients develop a malignancy by their mid-20s.

The diagnosis of NBS is typically made based on clinical features, genetic testing, and confirmation of biallelic mutations in the NBN gene. Treatment may involve management of infections, immunoglobulin replacement therapy, and chemotherapy or radiation therapy for malignancies. However, these treatments can be challenging due to the increased sensitivity to ionizing radiation and potential toxicity of chemotherapeutic agents.

Overall, NBS is a rare but serious disorder that requires multidisciplinary care from specialists in genetics, immunology, oncology, and other fields.

HeLa cells are a type of immortalized cell line used in scientific research. They are derived from a cancer that developed in the cervical tissue of Henrietta Lacks, an African-American woman, in 1951. After her death, cells taken from her tumor were found to be capable of continuous division and growth in a laboratory setting, making them an invaluable resource for medical research.

HeLa cells have been used in a wide range of scientific studies, including research on cancer, viruses, genetics, and drug development. They were the first human cell line to be successfully cloned and are able to grow rapidly in culture, doubling their population every 20-24 hours. This has made them an essential tool for many areas of biomedical research.

It is important to note that while HeLa cells have been instrumental in numerous scientific breakthroughs, the story of their origin raises ethical questions about informed consent and the use of human tissue in research.

Trioxsalen is a medication that belongs to a class of compounds known as psoralens. It is primarily used in the treatment of skin conditions such as psoriasis and vitiligo. Trioxsalen works by making the skin more sensitive to ultraviolet A (UVA) light, which helps to slow the growth of affected skin cells.

When used for medical treatments, trioxsalen is typically taken orally or applied topically to the affected area of skin before exposure to UVA light in a procedure known as photochemotherapy or PUVA (psoralen plus UVA) therapy. This process can help to reduce inflammation, suppress immune system activity, and improve the appearance of the skin.

It is essential to follow the prescribed dosage and treatment plan carefully, as trioxsalen can increase the risk of skin cancer and cataracts with long-term use or overexposure to UVA light. Additionally, trioxsalen may interact with certain medications and supplements, so it is crucial to inform your healthcare provider about all other substances you are taking before starting treatment.

A "cell line, transformed" is a type of cell culture that has undergone a stable genetic alteration, which confers the ability to grow indefinitely in vitro, outside of the organism from which it was derived. These cells have typically been immortalized through exposure to chemical or viral carcinogens, or by introducing specific oncogenes that disrupt normal cell growth regulation pathways.

Transformed cell lines are widely used in scientific research because they offer a consistent and renewable source of biological material for experimentation. They can be used to study various aspects of cell biology, including signal transduction, gene expression, drug discovery, and toxicity testing. However, it is important to note that transformed cells may not always behave identically to their normal counterparts, and results obtained using these cells should be validated in more physiologically relevant systems when possible.

Nucleic acid synthesis inhibitors are a class of antimicrobial, antiviral, or antitumor agents that block the synthesis of nucleic acids (DNA or RNA) by interfering with enzymes involved in their replication. These drugs can target various stages of nucleic acid synthesis, including DNA transcription, replication, and repair, as well as RNA transcription and processing.

Examples of nucleic acid synthesis inhibitors include:

1. Antibiotics like quinolones (e.g., ciprofloxacin), rifamycins (e.g., rifampin), and trimethoprim, which target bacterial DNA gyrase, RNA polymerase, or dihydrofolate reductase, respectively.
2. Antiviral drugs like reverse transcriptase inhibitors (e.g., zidovudine, lamivudine) and integrase strand transfer inhibitors (e.g., raltegravir), which target HIV replication by interfering with viral enzymes required for DNA synthesis.
3. Antitumor drugs like antimetabolites (e.g., methotrexate, 5-fluorouracil) and topoisomerase inhibitors (e.g., etoposide, doxorubicin), which interfere with DNA replication and repair in cancer cells.

These drugs have been widely used for treating various bacterial and viral infections, as well as cancers, due to their ability to selectively inhibit the growth of target cells without affecting normal cellular functions significantly. However, they may also cause side effects related to their mechanism of action or off-target effects on non-target cells.

Double-stranded DNA breaks (DSBs) refer to a type of damage that occurs in the DNA molecule when both strands of the double helix are severed or broken at the same location. This kind of damage is particularly harmful to cells because it can disrupt the integrity and continuity of the genetic material, potentially leading to genomic instability, mutations, and cell death if not properly repaired.

DSBs can arise from various sources, including exposure to ionizing radiation, chemical agents, free radicals, reactive oxygen species (ROS), and errors during DNA replication or repair processes. Unrepaired or incorrectly repaired DSBs have been implicated in numerous human diseases, such as cancer, neurodegenerative disorders, and premature aging.

Cells possess several mechanisms to repair double-stranded DNA breaks, including homologous recombination (HR) and non-homologous end joining (NHEJ). HR is a more accurate repair pathway that uses a homologous template, typically the sister chromatid, to restore the original DNA sequence. NHEJ, on the other hand, directly ligates the broken ends together, often resulting in small deletions or insertions at the break site and increased risk of errors. The choice between these two pathways depends on various factors, such as the cell cycle stage, the presence of nearby breaks, and the availability of repair proteins.

In summary, double-stranded DNA breaks are severe forms of DNA damage that can have detrimental consequences for cells if not properly repaired. Cells employ multiple mechanisms to address DSBs, with homologous recombination and non-homologous end joining being the primary repair pathways.

Methoxsalen is a medication that belongs to the class of drugs known as psoralens. It is primarily used in the treatment of skin conditions such as psoriasis and vitiligo.

Methoxsalen works by making the skin more sensitive to ultraviolet light A (UVA) after it is absorbed. This process helps to slow down the growth of affected skin cells, reducing the symptoms of the condition.

The medication is typically taken orally or applied topically to the affected area before UVA light therapy. It's important to note that methoxsalen can increase the risk of skin cancer and cataracts with long-term use, so it should only be used under the close supervision of a healthcare provider.

Sister chromatid exchange (SCE) is a type of genetic recombination that takes place between two identical sister chromatids during the DNA repair process in meiosis or mitosis. It results in an exchange of genetic material between the two chromatids, creating a new combination of genes on each chromatid. This event is a normal part of cell division and helps to increase genetic variability within a population. However, an increased rate of SCEs can also be indicative of exposure to certain genotoxic agents or conditions that cause DNA damage.

Hemolytic anemia, congenital is a type of anemia that is present at birth and characterized by the abnormal breakdown (hemolysis) of red blood cells. This can occur due to various genetic defects that affect the structure or function of the red blood cells, making them more susceptible to damage and destruction.

There are several types of congenital hemolytic anemias, including:

1. Congenital spherocytosis: A condition caused by mutations in genes that affect the shape and stability of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
2. G6PD deficiency: A genetic disorder that affects the enzyme glucose-6-phosphate dehydrogenase (G6PD), which is essential for protecting red blood cells from damage. People with this condition have low levels of G6PD, making their red blood cells more susceptible to hemolysis when exposed to certain triggers such as infections or certain medications.
3. Hereditary elliptocytosis: A condition caused by mutations in genes that affect the structure and flexibility of red blood cells, leading to the formation of abnormally shaped and fragile cells that are prone to hemolysis.
4. Pyruvate kinase deficiency: A rare genetic disorder that affects an enzyme called pyruvate kinase, which is essential for the production of energy in red blood cells. People with this condition have low levels of pyruvate kinase, leading to the formation of fragile and abnormally shaped red blood cells that are prone to hemolysis.

Symptoms of congenital hemolytic anemia can vary depending on the severity of the condition but may include fatigue, weakness, pale skin, jaundice, dark urine, and an enlarged spleen. Treatment may involve blood transfusions, medications to manage symptoms, and in some cases, surgery to remove the spleen.

DNA replication is the biological process by which DNA makes an identical copy of itself during cell division. It is a fundamental mechanism that allows genetic information to be passed down from one generation of cells to the next. During DNA replication, each strand of the double helix serves as a template for the synthesis of a new complementary strand. This results in the creation of two identical DNA molecules. The enzymes responsible for DNA replication include helicase, which unwinds the double helix, and polymerase, which adds nucleotides to the growing strands.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Oculocerebrorenal syndrome, also known as Lowe syndrome, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It's characterized by congenital cataracts, intellectual disability, and progressive kidney disease. The condition is caused by mutations in the OCRL gene, which provides instructions for making an enzyme called phosphatidylinositol 4,5-bisphosphate 5-phosphatase. This enzyme plays a crucial role in cell signaling and trafficking within cells.

The symptoms of oculocerebrorenal syndrome can vary widely among affected individuals, but they typically include:

* Eye abnormalities: Most people with the condition are born with congenital cataracts that need to be removed soon after birth. Other eye problems may include glaucoma, strabismus (crossed eyes), and optic nerve damage, which can lead to vision loss.
* Brain abnormalities: Intellectual disability is a common feature of the condition, ranging from mild to severe. Affected individuals may also have delayed development, behavioral problems, and difficulty with coordination and movement.
* Kidney abnormalities: Progressive kidney disease is a hallmark of oculocerebrorenal syndrome. The kidneys may become enlarged and scarred, leading to kidney failure in some cases. Other kidney-related symptoms can include proteinuria (protein in the urine), hematuria (blood in the urine), and high blood pressure.

There is no cure for oculocerebrorenal syndrome, but treatments can help manage the symptoms. For example, cataract surgery can improve vision, while medications and dietary changes can help manage kidney disease. Early intervention and supportive care can also help improve outcomes for affected individuals.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Lymphocytes are a type of white blood cell that is an essential part of the immune system. They are responsible for recognizing and responding to potentially harmful substances such as viruses, bacteria, and other foreign invaders. There are two main types of lymphocytes: B-lymphocytes (B-cells) and T-lymphocytes (T-cells).

B-lymphocytes produce antibodies, which are proteins that help to neutralize or destroy foreign substances. When a B-cell encounters a foreign substance, it becomes activated and begins to divide and differentiate into plasma cells, which produce and secrete large amounts of antibodies. These antibodies bind to the foreign substance, marking it for destruction by other immune cells.

T-lymphocytes, on the other hand, are involved in cell-mediated immunity. They directly attack and destroy infected cells or cancerous cells. T-cells can also help to regulate the immune response by producing chemical signals that activate or inhibit other immune cells.

Lymphocytes are produced in the bone marrow and mature in either the bone marrow (B-cells) or the thymus gland (T-cells). They circulate throughout the body in the blood and lymphatic system, where they can be found in high concentrations in lymph nodes, the spleen, and other lymphoid organs.

Abnormalities in the number or function of lymphocytes can lead to a variety of immune-related disorders, including immunodeficiency diseases, autoimmune disorders, and cancer.

Equine infectious anemia (EIA) is a viral disease that affects horses and other equine animals. It is caused by the Equine Infectious Anemia Virus (EIAV), which is transmitted through the bloodstream of infected animals, often through biting insects such as horseflies and deerflies.

The symptoms of EIA can vary widely, but often include fever, weakness, weight loss, anemia, and edema. In severe cases, the disease can cause death. There is no cure for EIA, and infected animals must be isolated to prevent the spread of the virus.

EIA is diagnosed through blood tests that detect the presence of antibodies to the virus. Horses that test positive for EIA are typically euthanized or permanently quarantined. Prevention measures include testing horses before they are bought, sold, or moved, as well as controlling insect populations and using insect repellents. Vaccines are not available for EIA in most countries.

DNA repair-deficiency disorders are a group of genetic conditions that result from mutations in genes responsible for the repair and maintenance of DNA. These disorders are characterized by increased sensitivity to environmental factors that can damage DNA, such as ultraviolet (UV) radiation, chemicals, and free radicals. As a result, individuals with these disorders have an increased risk of developing various types of cancer, neurological disorders, premature aging, and other health problems.

Examples of DNA repair-deficiency disorders include xeroderma pigmentosum, Cockayne syndrome, trichothiodystrophy, and Bloom syndrome. These conditions are typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Treatment for DNA repair-deficiency disorders is focused on managing symptoms and preventing complications. This may include avoiding exposure to UV radiation, using sunscreens and protective clothing, and undergoing regular cancer screenings. In some cases, medications or other therapies may be used to treat specific symptoms or complications of the disorder.

Erythropoietin (EPO) is a hormone that is primarily produced by the kidneys and plays a crucial role in the production of red blood cells in the body. It works by stimulating the bone marrow to produce more red blood cells, which are essential for carrying oxygen to various tissues and organs.

EPO is a glycoprotein that is released into the bloodstream in response to low oxygen levels in the body. When the kidneys detect low oxygen levels, they release EPO, which then travels to the bone marrow and binds to specific receptors on immature red blood cells called erythroblasts. This binding triggers a series of events that promote the maturation and proliferation of erythroblasts, leading to an increase in the production of red blood cells.

In addition to its role in regulating red blood cell production, EPO has also been shown to have neuroprotective effects and may play a role in modulating the immune system. Abnormal levels of EPO have been associated with various medical conditions, including anemia, kidney disease, and certain types of cancer.

EPO is also used as a therapeutic agent for the treatment of anemia caused by chronic kidney disease, chemotherapy, or other conditions that affect red blood cell production. Recombinant human EPO (rhEPO) is a synthetic form of the hormone that is produced using genetic engineering techniques and is commonly used in clinical practice to treat anemia. However, misuse of rhEPO for performance enhancement in sports has been a subject of concern due to its potential to enhance oxygen-carrying capacity and improve endurance.

Alkylating agents are a class of chemotherapy drugs that work by alkylating, or adding an alkyl group to, DNA molecules. This process can damage the DNA and prevent cancer cells from dividing and growing. Alkylating agents are often used to treat various types of cancer, including Hodgkin's lymphoma, non-Hodgkin's lymphoma, multiple myeloma, and solid tumors. Examples of alkylating agents include cyclophosphamide, melphalan, and chlorambucil. These drugs can have significant side effects, including nausea, vomiting, hair loss, and an increased risk of infection. They can also cause long-term damage to the heart, lungs, and reproductive system.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

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.

I'm sorry for any confusion, but "Ficusin" is not a recognized term in medical or scientific literature. It appears to be a made-up name. Ficus is a genus of plants that includes many species commonly known as fig trees, but there is no specific "Ficusin" compound derived from this plant or used in medical contexts. If you have more information about where you encountered this term or if it's related to a specific context, I would be happy to help further!

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.

... Research Fund GeneReviews/NCBI/NIH/UW entry on Fanconi Anemia OMIM entries on Fanconi Anemia Fanconi anemia at ... Fanconi Anemia~clinical at eMedicine Kutler DI, Auerbach AD (2004). "Fanconi anemia in Ashkenazi Jews". Fam. Cancer. 3 (3-4): ... Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989). "International Fanconi Anemia Registry: First Report". Fanconi Anemia. pp. ... 1994). "Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study". Blood. 84 (5): 1650-4. ...
"Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia ... a characteristic of Fanconi anemia patients. Both male and female FANCC mutant mice have reduced numbers of germ cells. Fanconi ... Fanconi anemia group C protein is a protein that in humans is encoded by the FANCC gene. This protein delays the onset of ... Otsuki T, Young DB, Sasaki DT, Pando MP, Li J, Manning A, Hoekstra M, Hoatlin ME, Mercurio F, Liu JM (2002). "Fanconi anemia ...
"Fanconi anemia". Genetics Home Reference. Retrieved 2019-08-02. Damlich, Jennifer; Qato, Roa; Cruz, Meredith; Colon, Maria; ... Fanconi anemia, ligase 4 deficiency syndrome and Bloom syndrome. These findings suggest that a normal DNA damage response is ... Congenital HIV encephalopathy Meningitis Encephalitis Toxins Chronic kidney failure Deprivation Hypothyroidism Anemia ...
"Correcting Fanconi anaemia - healthy cells derived from diseased ones offer treatment hope". New York Stem Cell Foundation. ... "Nature Fanconi Anemia". "Nature Medicine Wound Healing". "SDUT Profile". "New Yorker Aging". The New Yorker. "WP Gene Therapy ...
"What Is Fanconi Anemia?". NHLBI, NIH. Retrieved 2017-05-15. Tomkinson AE, Howes TR, Wiest NE (June 2013). "DNA ligases as ... Fanconi anemia (FA) is a rare, inherited blood disorder that leads to bone marrow failure. FA prevents bone marrow from making ...
For some of these diseases, cancer is not their primary feature.[citation needed] Fanconi anemia is a disorder with a wide ... Moldovan GL, D'Andrea AD (2009). "How the fanconi anemia pathway guards the genome". Annu. Rev. Genet. 43: 223-49. doi:10.1146/ ... Su X, Huang J (September 2011). "The Fanconi anemia pathway and DNA interstrand cross-link repair". Protein Cell. 2 (9): 704-11 ... Kottemann MC, Smogorzewska A (January 2013). "Fanconi anaemia and the repair of Watson and Crick DNA crosslinks". Nature. 493 ( ...
Fanconi anaemia: Fanconi Anaemia is a disorder that predisposes patients to cancer due to its effect on DNA repair pathways. ... Poor clinical outcomes in neuroblastomas (such as those caused by deletion of the FANC gene in Fanconi Anaemia) have been ... Heddle JA, Lue CB, Sauders EF, Benz RD (1978). "Sensitivity to five mutagens in Fanconi's Anemia as measured by the ... Tischkowitz MD, Hodgson SV (2003). "Fanconi anaemia". Journal of Medical Genetics. 40 (1): 1-10. doi:10.1136/jmg.40.1.1. PMC ...
"Treatments - Fanconi Anemia Research Fund". fanconi.org. Eckert, Tiffany (October 4, 2016). "Frohnmayer Family Loses Third ... All three Frohnmayer daughters died of complications related to Fanconi anemia: Katie in 1991 at age 12, Kirsten in 1997 at age ... daughters Kirsten and Katie were diagnosed with Fanconi anemia, a rare and life-threatening recessive genetic illness. Their ... share disease and treatment information with other families afflicted by the illness and in 1989 established the Fanconi Anemia ...
Fanconi anemia group B protein is a protein that in humans is encoded by the FANCB gene. The Fanconi anemia complementation ... Within the Fanconi anemia core complex, FANCB has an obligate interaction with FAAP100 and FANCL, to form a catalytic E3 RING ... "Entrez Gene: FANCB Fanconi anemia, complementation group B". Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, ... FANCB is the only gene known to cause X-linked Fanconi Anemia. In female carriers of FANCB mutations (one wild-type FANCB ...
Thompson LH, Hinz JM (2009). "Cellular and molecular consequences of defective Fanconi anemia proteins in replication-coupled ... Alter BP (2003). "Cancer in Fanconi anemia, 1927-2001". Cancer. 97 (2): 425-40. doi:10.1002/cncr.11046. PMID 12518367. S2CID ... Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson-Gilford progeria syndrome) Rothmund- ... Companion Reviews and Search Terms Fanconi s anemia - Companion Reviews and Search Terms WRN - Companion Reviews and Search ...
Niedernhofer, Laura J.; Lalai, Astrid S.; Hoeijmakers, Jan H.J. (2005). "Fanconi Anemia (Cross)linked to DNA Repair". Cell. 123 ...
2013). "Fanconi anemia caused by biallelic inactivation of BRCA2 can present with an atypical cancer phenotype in adulthood". ... Biallelic and homozygous inheritance of a BRCA gene leads to a severe form of Fanconi anemia, and is embryonically lethal in ... "Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype". Cancer Discov. 5 (2): 135-42. doi:10.1158/2159-8290.CD-14- ... Inheriting two BRCA2 mutations produces Fanconi anemia.: 82-85 Each pregnancy in genetically typical women is associated with a ...
Fanconi anemia (FA), ataxia-telangiectasia (AT), and Bloom syndrome (BS). Most notably, Fanconi anemia is an autosomal- ... Lifetime Achievement Award, Fanconi Anemia Research Fund, 2019. Ernest Beutler Lecture and Prize, American Society of ... D'Andrea, Alan D. (2010-05-20). "Susceptibility pathways in Fanconi's anemia and breast cancer". The New England Journal of ... "Biallelic inactivation of BRCA2 in Fanconi anemia". Science. 297 (5581): 606-609. Bibcode:2002Sci...297..606H. doi:10.1126/ ...
"Diagnosis of fanconi anemia: chromosomal breakage analysis". Anemia. 2012: 238731. doi:10.1155/2012/238731. PMC 3368163. PMID ... Karyotyping is used for Fanconi Anemia, based on 73-hour whole-blood cultures, which are then stained with Giemsa. Following ... Sakamoto Hojo ET, van Diemen PC, Darroudi F, Natarajan AT (1995). "Spontaneous chromosomal aberrations in Fanconi anaemia, ... However, chromosomal instability syndromes such as Bloom syndrome, ataxia telangiectasia and Fanconi anaemia are inherited and ...
February 2007). "Fanconi anemia is associated with a defect in the BRCA2 partner PALB2". Nature Genetics. 39 (2): 159-61. doi: ... February 2007). "Fanconi anemia is associated with a defect in the BRCA2 partner PALB2". Nature Genetics. 39 (2): 159-61. doi: ... Fanconi anemia BRCA2 DNA repair Tumor suppressor gene GRCh38: Ensembl release 89: ENSG00000083093 - Ensembl, May 2017 GRCm38: ... Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME (September 2009). "The Fanconi anemia protein FANCM is controlled by ...
Mutations in the gene are associated with the disease Fanconi anemia. The version of SLX4 present in humans and other mammals ... This and further analysis revealed the mouse phenotype to model the human genetic illness, Fanconi anemia. The association was ... February 2011). "Disruption of mouse Slx4, a regulator of structure-specific nucleases, phenocopies Fanconi anemia". Nat. Genet ... "Mutations of the SLX4 gene in Fanconi anemia". Nat. Genet. 43 (2): 142-6. doi:10.1038/ng.750. PMC 3345287. PMID 21240275. van ...
Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation ... Tamary H, Bar-Yam R, Zemach M, Dgany O, Shalmon L, Yaniv I (October 2002). "The molecular biology of Fanconi anemia". The ... Fanconi anemia is a disorder with a recessive Mendelian pattern of inheritance characterized by chromosomal instability, ... Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME (September 2009). "The Fanconi anemia protein FANCM is controlled by ...
... and Fanconi anemia (e.g., FANC, FANA) have been uncovered. The mutations in the donor and acceptor splice sites in different ...
Mutations in the FANCI gene are known to cause Fanconi anemia. The Fanconi anemia complementation group (FANC) currently ... Fanconi anemia, complementation group I (FANCI) also known as KIAA1794, is a protein which in humans is encoded by the FANCI ... Gueiderikh A, Maczkowiak-Chartois F, Rouvet G, Souquère-Besse S, Apcher S, Diaz JJ, Rosselli F (January 2021). "Fanconi anemia ... Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to ...
"Entrez Gene: FANCL Fanconi anemia, complementation group L". D'Andrea AD (2010). "Susceptibility pathways in Fanconi's anemia ... Sobeck A, Stone S, Landais I, de Graaf B, Hoatlin ME (2009). "The Fanconi anemia protein FANCM is controlled by FANCD2 and the ... Miles JA, Frost MG, Carroll E, Rowe ML, Howard MJ, Sidhu A, Chaugule VK, Alpi AF, Walden H (2015). "The Fanconi Anemia DNA ... Gurtan AM, Stuckert P, D'Andrea AD (2006). "The WD40 repeats of FANCL are required for Fanconi anemia core complex assembly". J ...
It is thought to play an important role in the Fanconi Anemia (FA) pathway. FAN1 is a protein of 1017 amino acids. Several ... However, some patients have "unassigned" Fanconi Anemia where no mutations in the known FA genes can be found. Mutations in ... Kim H, D'Andrea AD (July 2012). "Regulation of DNA cross-link repair by the Fanconi anemia/BRCA pathway". Genes & Development. ... Mutations affecting the function of the 15 known FA genes are associated with Fanconi anemia, a recessive autosomal disorder. ...
Fisher's son Ethan was diagnosed in 2011 with Fanconi anemia, a rare genetic disease. The diagnosis prompted Ethan's parents, ... The non-profit funds critical research of Fanconi anemia. The University of Minnesota's Masonic Children's Hospital ... rechristened its FA program the Kidz1stFund Fanconi Anemia Comprehensive Care Center. Fisher's oldest son Trey attended the ...
Strathdee, C.A.; Gavish, H.; Shannon, W.; Buchwald, M. (1992). "Cloning of cDNAs for Fanconi's anemia by functional ... T-cell receptor and the identification of the genes that cause Fanconi anemia, cystic fibrosis and early-onset Alzheimer's ...
Botthof JG, Bielczyk-Maczyńska E, Ferreira L, Cvejic A (May 2017). "rad51 leads to Fanconi anemia-like symptoms in zebrafish". ...
The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional ... "The deubiquitinating enzyme USP1 regulates the Fanconi anemia pathway". Molecular Cell. 17 (3): 331-339. doi:10.1016/j.molcel. ...
October 2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nature Genetics. 35 (2): 165-170. doi:10.1038/ng1241 ... Deans AJ, West SC (December 2009). "FANCM connects the genome instability disorders Bloom's Syndrome and Fanconi Anemia". ... and FANCM of the Fanconi Anaemia pathway. An insert within OB1 domain of RMI1 inserts into the catalytic centre of ...
... biallelic mutations in BRCA1 have been identified to be responsible for Fanconi Anemia, Complementation Group S (FA-S), a ... "Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype". Cancer Discov. 5 (2): 135-42. doi:10.1158/2159-8290.CD-14- ... "BRCA1 interacts directly with the Fanconi anemia protein FANCA". Hum. Mol. Genet. 11 (21): 2591-7. doi:10.1093/hmg/11.21.2591. ... "Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative ...
The university is credited with isolating the genes that cause Fanconi anemia, cystic fibrosis and early-onset Alzheimer's ... Strathdee, C.A.; Gavish, H.; Shannon, W.; Buchwald, M. (1992). "Cloning of cDNAs for Fanconi's anemia by functional ...
"A novel ubiquitin ligase is deficient in Fanconi anemia". Nature Genetics. 35 (2): 165-70. doi:10.1038/ng1241. PMID 12973351. ...
Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A (June 2001). "Preimplantation diagnosis for Fanconi anemia combined ...
Fanconi Anemia Research Fund GeneReviews/NCBI/NIH/UW entry on Fanconi Anemia OMIM entries on Fanconi Anemia Fanconi anemia at ... Fanconi Anemia~clinical at eMedicine Kutler DI, Auerbach AD (2004). "Fanconi anemia in Ashkenazi Jews". Fam. Cancer. 3 (3-4): ... Auerbach AD, Rogatko A, Schroeder-Kurth TM (1989). "International Fanconi Anemia Registry: First Report". Fanconi Anemia. pp. ... 1994). "Hematologic abnormalities in Fanconi anemia: an International Fanconi Anemia Registry study". Blood. 84 (5): 1650-4. ...
Fanconis anemia is the most common of the rare inherited bone marrow failure syndromes. ... This article reviews Fanconis anemia (FA), the most common of the rare inherited bone marrow failure syndromes, and discusses ... Cite this: Topics in Pediatric Leukemia -- Fanconis Anemia: New Insights - Medscape - Apr 06, 2005. ...
Patients with Fanconis anemia (FA) are at a high risk for development of malignancies. It is well-known that leukemia occurs ... Fanconis anemia and malignancies Am J Hematol. 1996 Oct;53(2):99-110. doi: 10.1002/(SICI)1096-8652(199610)53:2,99::AID-AJH7, ... Patients with Fanconis anemia (FA) are at a high risk for development of malignancies. It is well-known that leukemia occurs ... This review identifies the types of tumors for which patients with Fanconis anemia are at risk. ...
In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately ... Tests in Fanconi anemia reveal the following:. * Complete blood count (CBC) - In Fanconi anemia, the CBC may reveal trilineage ... Management of Fanconi anemia. Supportive care for patients with symptomatic Fanconi anemia includes transfusions of packed RBCs ...
Fanconi anemia group C protein isoform a [Homo sapiens] Fanconi anemia group C protein isoform a [Homo sapiens]. gi,56118236, ... Fanconi Anemia complementation group C protein in metabolic disorders. [Aging (Albany NY). 2018] Fanconi Anemia complementation ... Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. [Mol Med Rep. 2018] ... Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis.. Kulanuwat S, Jungtrakoon ...
Copyright © 2018-2023 Fanconi Anemia Research Fund. Content on this website is the property of the Fanconi Anemia Research Fund ... Chapter 2 - Diagnosis of Fanconi Anemia: Testing and Genetic Counseling. *Chapter 3 - Clinical Care of Fanconi Anemia ... Chapter 8 - Dermatologic Issues in Patients with Fanconi Anemia. *Chapter 9 - Clinical Care of Fanconi Anemia Gastrointestinal ... Early and Periodic Auditory Monitoring for Patients with Fanconi Anemia. Any child diagnosed with Fanconi anemia (FA) should ...
Copyright © 2018-2023 Fanconi Anemia Research Fund. Content on this website is the property of the Fanconi Anemia Research Fund ...
Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a ... What is Fanconi Anemia?. * Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, ... Fanconi Anemia Treatment at Dana-Farber/Boston Childrens. Children, teenagers, and young adults with Fanconi anemia are ... Find more in-depth information on Fanconi anemia on the Boston Childrens Hospital website, including answers to:. *What causes ...
American Roentgen Ray Society Images of Fanconi anemia epidemiology and demographics All Images. X-rays. Echo & Ultrasound. CT ... Fanconi anemia is rare overall, but it is one of the most common inherited bone marrow failure syndromes. It is typically ... Fanconi anemia is rare overall, but it is one of the most common inherited bone marrow failure syndromes. Historically, the ... There is no racial predilection for Fanconi anemia. It is slightly more common in males than females with a ratio of 1.2:1. ...
... Nat Genet. 2006 ... cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. ... Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating ...
In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately ... Tests in Fanconi anemia reveal the following:. * Complete blood count (CBC) - In Fanconi anemia, the CBC may reveal trilineage ... Management of Fanconi anemia. Supportive care for patients with symptomatic Fanconi anemia includes transfusions of packed RBCs ...
Fanconi anaemia is a complex medical condition that may lead to bone marrow failure, physical abnormalities, organ defects, and ... Fanconi anaemia. What is fanconi anaemia?. Fanconi anaemia is a complex medical condition that may affect many parts of the ... Who does fanconi anaemia affect?. Fanconi anaemia is rare and occurs in 1 in 160,000 individuals worldwide. This condition is ... What causes fanconi anaemia?. Fanconi anaemia is an inherited genetic condition. Scientists have now discovered 15 FA or FA- ...
The Fanconi Anemia (FA) pathway genes maintain genome stabi.. ... The Fanconi Anemia (FA) pathway genes maintain genome stability ... Identification of fanconi anemia pathway genes as novel prognostic biomarkers and therapeutic targets for breast cancer. Author ...
Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. Non-FA (or underlying FA) patients harboring ... Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. Non-FA (or underlying FA) patients harboring ... The fanconi anaemia pathway: New players and new functions. Nat Rev Mol Cell Biol (2016) 17(6):337-49. doi: 10.1038/nrm.2016.48 ... The Fanconi anemia (FA) pathway (also known as the FA-BRCA pathway) is involved in the repair of DNA lesions by homologous ...
In contrast to patients affected with Fanconis anaemia (FA), who are homozygotes, parental heterozygotes are generally ... Immune status of Fanconi anemia patients: decrease in T CD8 and CD56dim CD16+ NK lymphocytes ... Oxidative stress in Fanconi anaemia: from cells and molecules towards prospects in clinical management ... Immunological Phenotype Analysis of Patients with Fanconis Anaemia and Their Family Members. Acta Haematol (1998) 100 (1): 39- ...
Fanconi anaemia, Café au lait spot, chromosomal breakage study Abstract. Fanconi anaemia is a rare and most common form of ... Aziz, M. A., Chowdhury, M. U., Khan, R., Shah, M. S., & Islam, S. (2017). Fanconi Anaemia A Rare Case Report. Bangladesh ... inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital ...
The erythropoietin response to anaemia was compared in 30 children with haemolytic anaemia and in 5 children with Fanconis ... Erythropoietin Response to Anaemia in Children with Sickle Cell Disease and Fanconis Hypoproliferative Anaemia. Acta Haematol ... Effect of androgen therapy and anemia on serum erythropoietin levels in patients with aplastic anemia and myelodysplastic ... Increased response of erythroid progenitors to interleukin-3 in sickle cell anemia: CFU-E-like behavior of circulating ...
S Meyer, L Barber, AM Will, OB Eden, GM Taylor; The Role of Constitutional Polymorphisms and Mutations in the Fanconi Anaemia ... The Role of Constitutional Polymorphisms and Mutations in the Fanconi Anaemia Group G Gene (FANCG) for Sporadic Childhood ...
Fanconi anemia (FA) is a genetic disorder, autosomal recessive or linked to the X chromosome, which presents with pancytopenia ... High risk of developing cancer in young patients with fanconi anemia. Background: Fanconi anemia (FA) is a genetic disorder, ... Methods: We present the case of a 20-year-old female patient with Fanconi Anemia who developed gynecological and hematological ...
... Overview. Fanconi anemia is a blood disorder. With this condition, the bone marrow doesnt make ... Diagnosing Fanconi anemia is difficult, and confirming the diagnosis can be complicated. because the signs of Fanconi anemia ... Fanconi anemia is a very rare genetic condition. That means it runs in families. Its passed from parents to children. The ... Fanconi anemia is a very rare genetic condition.. *A child with this condition may have physical abnormalities, bone marrow ...
Home » Inspiration » Worlds Oldest Fanconi Anemia Patient Turns 30!. Worlds Oldest Fanconi Anemia Patient Turns 30!. Posted ... Click here to learn more about Fanconi Anemia, and to donate to the Fanconi Anemia Foundation in honor of Ruthies birthday. ... There are different kinds of Fanconis Anemia. Ruthie is the oldest person in the world with the Fanconis anemia associated ... I too have Fanconi Anemia. I had a bone marrow transplant at 7, breast cancer at 33, and have had three beautiful children! I ...
Lineage depletion improves isolation of rare hematopoietic stem cells in Fanconi Anemia patients ... Fanconi anemia (FA) is an inherited disorder affecting DNA repair in hematopoietic (blood) stem and progenitor cells (HSPCs) ... Novel lineage depletion preserves autologous blood stem cells for gene therapy of Fanconi anemia complementation group A. ... Diseases We Treat Acute Lymphoblastic Leukemia Acute Myeloid Leukemia Adrenal Cancer Amyloidosis Anal Cancer Aplastic Anemia ...
Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. In: Radiotherapy ... Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. Radiotherapy and ... Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. / Ramaekers, ... Hypoxia disrupts the Fanconi anemia pathway and sensitizes cells to chemotherapy through regulation of UBE2T. ...
The genetic bases of Fanconis anemia.]. scientific article published on 01 October 1959 ...
... due to damaged DNA repair mechanisms that require functional products of the Fanconi anemia genes. For example, the FANCA, -B ... is an inherited anemia associated with bone marrow failure (aplastic anemia), however, the clinical features of FA can expand ... and anemia (Giampietro et al. 1997. PubMed ID: 8986277). A hallmark of FA is hypersensitivity of chromosomes to inter cross- ... Fanconi Anemia (FA) is an inherited anemia associated with bone marrow failure (aplastic anemia), however, the clinical ...
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In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately ... Mild forms of Fanconi anemia may be missed, placing future pregnancies in that family at risk for Fanconi anemia. Possible ... encoded search term (Fanconi Anemia) and Fanconi Anemia What to Read Next on Medscape ...
Fanconis anemia is the most common of the rare inherited bone marrow failure syndromes. ... This article reviews Fanconis anemia (FA), the most common of the rare inherited bone marrow failure syndromes, and discusses ... Cite this: Topics in Pediatric Leukemia -- Fanconis Anemia: New Insights - Medscape - Apr 06, 2005. ...
DAGULHAM, Anna Clara Duszczak et al. Fanconi Anemia: main oral manifestations. RGO, Rev. gaúch. odontol. (Online) [online]. ... Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital ... An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is ... Keywords : Bone marrow transplant; Fanconi Anemia; Oral manifestations; Oral mucosa; Squamous cell carcinoma. ...
In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. ... Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately ... About one third of the cases of Fanconi anemia and leukemia in the literature did not have a prior diagnosis of Fanconi anemia ... encoded search term (Fanconi Anemia) and Fanconi Anemia What to Read Next on Medscape ...
  • Fanconi anemia (FA) is a rare, AR, genetic disease resulting in impaired response to DNA damage in the FA/BRCA pathway. (wikipedia.org)
  • The Fanconi anemia (FA) pathway (also known as the FA-BRCA pathway) is involved in the repair of DNA lesions by homologous recombination, which plays a vital role in the maintenance of genomic stability ( 1 ). (frontiersin.org)
  • Here we investigated hypoxic regulation of UBE2T, a ubiquitin ligase required in the Fanconi anemia (FA) DNA repair pathway. (maastrichtuniversity.nl)
  • Exposure of tumor cells to hypoxia greatly increased their sensitivity to treatment with the interstrand crosslinking (ICL) agent mitomycin C. Conclusions: Exposure to hypoxic conditions down-regulates UBE2T expression which correlates with an increased sensitivity to crosslinking agents consistent with a defective Fanconi anemia pathway. (maastrichtuniversity.nl)
  • There has been a recent profusion of reviews on Fanconi anemia (FA), which will give readers a comprehensive outline of the field R.D. Kennedy, A.D. D'Andrea, The Fanconi anemia/BRCA pathway: new faces in the crowd, Genes Dev. (ox.ac.uk)
  • Scientists discovered that a well-known DNA repair pathway, the Fanconi anemia pathway, surprisingly plays a key role in repairing double-strand DNA breaks created by CRISPR-Cas9. (sciencedaily.com)
  • This event also causes phosphorylation of the Fanconi anemia (FA) protein FANCI, triggering its monoubiquitination of the key DNA repair factor FANCD2 by the FA core E3 ligase complex, thereby promoting this central pathway of DNA repair which permits replication to be restarted. (elsevierpure.com)
  • Recent studies have elucidated a biochemical pathway for Fanconi anemia that culminates in the monoubiquitination of the FANCD2 protein. (ashpublications.org)
  • Replicative repair of interstrand crosslinks (ICL) generated by platinum chemotherapeutics is orchestrated by the Fanconi anemia (FA) repair pathway to ensure resolution of stalled replication forks and the maintenance of genomic integrity. (nki.nl)
  • The Fanconi anaemia (FA) pathway represents a key DDR process which remains relatively inactive in normal brain, but is re-activated in glioblastoma, raising its value as a foundational target for cancer-specific treatment. (whiterose.ac.uk)
  • A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain. (medscape.com)
  • As per Orphanet, the prevalence of Fanconi anemia is 0.3 per 100,000. (rohtaknewsmagazine.net)
  • People with fanconi anaemia may also develop myelodysplastic syndrome (MDS), a condition in which immature blood cells fail to develop normally. (theaat.org.uk)
  • More than 50% of people with fanconi anaemia have physical abnormalities. (theaat.org.uk)
  • Approximately 90% of people with fanconi anaemia have impaired bone marrow function that leads to a decrease in the production of all blood cells - aplastic anaemia . (theaat.org.uk)
  • Researchers have shown that variants (mutations) in one of at least 15 different genes can cause Fanconi anemia. (dana-farber.org)
  • Historically, the heterozygote frequency for pathogenic Fanconi anemia mutations has been estimated to be 1:300 in the United States and Europe and 1:100 in Ashkenazi Jews and South Africans. (wikidoc.org)
  • Biallelic BRIP1 mutations were recently shown to cause Fanconi anemia complementation group J. Thus, inactivating truncating mutations of BRIP1, similar to those in BRCA2, cause Fanconi anemia in biallelic carriers and confer susceptibility to breast cancer in monoallelic carriers. (nih.gov)
  • (B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
  • Fanconi anemia is caused by mutations (changes) in certain genes involved in DNA repair. (rohtaknewsmagazine.net)
  • Mild forms of Fanconi anemia may be missed, placing future pregnancies in that family at risk for Fanconi anemia. (medscape.com)
  • Some forms of Fanconi anemia, such as those of complementation group D1, N, and S, are embryonically lethal in most cases, which might account for the rare observation of these complementation groups. (wikipedia.org)
  • Stem cell transplants offer the only cure for Fanconi anemia. (valleychildrens.org)
  • To find effective treatments and a cure for Fanconi anemia (FA) and to provide education and support services to affected families worldwide. (lls.org)
  • T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population. (medscape.com)
  • If you want to treat sickle cell anemia, your chances of success are inextricably tied to the efficiency with which you can replace the mutated sickle cell gene with the correct one," said UC Berkeley postdoctoral fellow Chris Richardson, first author of a paper describing the findings. (sciencedaily.com)
  • Content on this website is the property of the Fanconi Anemia Research Fund and may only be reprinted with prior authorization. (fanconi.org)
  • Fanconi Anemia Clinical Care Guidelines, Fifth Edition, is a publication of the Fanconi Anemia Research Fund. (fasa.org.au)
  • According to the Fanconi Anemia Research Fund (FARF), the best and safest way to protect yourself from the virus is by getting vaccinated. (fasa.org.au)
  • The above advice was supplied by Fanconi Anemia Research Fund (FARF). (fasa.org.au)
  • This led to the identification of patients with Fanconi anemia and aplastic anemia without birth defects and the diagnosis of Fanconi anemia in patients without aplastic anemia but with abnormal physical findings. (medscape.com)
  • The advent of molecular diagnostics has further improved the specificity of Fanconi anemia diagnosis. (medscape.com)
  • Diagnosing Fanconi anemia is difficult, and confirming the diagnosis can be complicated. (valleychildrens.org)
  • The diagnosis of Fanconi anemia must first be considered and can only be established if specific tests are ordered. (medscape.com)
  • The diagnosis of Fanconi anemia must be made to avoid the inappropriate use of immunosuppressive therapy for aplastic anemia, the use of toxic levels of chemotherapy or radiotherapy in leukemia or solid tumors, or toxic types of preparation for stem cell transplantation. (medscape.com)
  • Due to the increased susceptibility to the development of cancer in this specific population, it is important for the dentist to know the common oral manifestations and potentially cancerous lesions, in order to make an early diagnosis in individuals with Fanconi Anemia. (bvsalud.org)
  • 7 Early and accurate diagnosis of Fanconi anemia is important, because it profoundly affects patient monitoring and treatment decisions and permits early genetic counseling of family members. (ashpublications.org)
  • This article reviews Fanconi's anemia (FA), the most common of the rare inherited bone marrow failure syndromes, and discusses new insights on the pathophysiology of this disease. (medscape.com)
  • Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs). (medscape.com)
  • Hematopoietic stem cell transplantation (bone marrow, cord blood, or peripheral blood stem cells) may cure aplastic anemia and prevent myelodysplastic syndrome or leukemia. (medscape.com)
  • Fanconi anemia (FA) is a rare inherited disease characterized by multiple physical abnormalities, bone marrow failure, and a higher than normal risk of cancer. (dana-farber.org)
  • Children, teenagers, and young adults with Fanconi anemia are treated at Dana-Farber/Boston Children's Cancer and Blood Disorders Center through our Bone Marrow Failure and Myelodysplastic Syndrome Program , recognized as one of the nation's best pediatric treatment and research programs for bone marrow failure and related conditions. (dana-farber.org)
  • Stem cell (bone marrow) transplant is currently the only cure for the blood defects of Fanconi anemia. (dana-farber.org)
  • Fanconi anemia is rare overall, but it is one of the most common inherited bone marrow failure syndromes. (wikidoc.org)
  • Individuals with fanconi anaemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukaemia (AML). (theaat.org.uk)
  • Fanconi anemia (FA) is an inherited disorder affecting DNA repair in hematopoietic (blood) stem and progenitor cells (HSPCs) from the bone marrow. (fredhutch.org)
  • Fanconi Anemia (FA) is an inherited anemia associated with bone marrow failure (aplastic anemia), however, the clinical features of FA can expand well beyond hematologic anomalies. (preventiongenetics.com)
  • Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia. (bvsalud.org)
  • An increased risk for the development of malignant neoplasias in individuals with Fanconi Anemia has been reported, and this is progressive after bone marrow transplantation. (bvsalud.org)
  • Fanconi anemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs), with approximately 2000 cases reported in the medical literature. (medscape.com)
  • Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. (beds.ac.uk)
  • Individuals with Fanconi anemia have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or tumors of the head, neck, skin, gastrointestinal system, or genital tract. (beds.ac.uk)
  • Fanconi anemia (FA) is an autosomal recessive chromosomal instability syndrome characterized by congenital abnormalities, progressive bone marrow failure, and cancer predisposition. (ashpublications.org)
  • Fanconi anemia (FA) is an autosomal recessive cancer susceptibility disorder characterized by diverse clinical features such as skeletal or skin abnormalities, progressive bone marrow failure, and increased risk of malignancies. (ashpublications.org)
  • Fanconi Anemia (FA) is a chromosome instability (CI) syndrome , clinically characterized by progressive bone marrow failure and increased cancer predisposition. (bvsalud.org)
  • Fanconi anemia is a rare inherited disorder in which the bone marrow does not make enough blood cells, including red blood cells, white blood cells, and platelets. (rohtaknewsmagazine.net)
  • The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. (wikipedia.org)
  • In 1927, Guido Fanconi first reported 3 brothers with macrocytosis, pancytopenia, and physical abnormalities. (medscape.com)
  • Patients with clinical features of FA, individuals with a family history of FA, and patients that develop aplastic anemia and hematologic disorders at any age even if they present no other physical abnormalities. (preventiongenetics.com)
  • About one-third of FA patients have no obvious physical abnormalities and are diagnosed only after a family member is diagnosed, or after developing hematologic anomalies such as thromobocytopenia, leukopenia, and anemia (Giampietro et al. (preventiongenetics.com)
  • Patients with Fanconi's anemia (FA) are at a high risk for development of malignancies. (nih.gov)
  • This review identifies the types of tumors for which patients with Fanconi's anemia are at risk. (nih.gov)
  • Approximately 25% of known patients with Fanconi anemia do not have major birth defects. (medscape.com)
  • Birth defects (present in up to 75% of Fanconi anemia patients, depending on the level of scrutiny) associated with Fanconi anemia are demonstrated in the images below. (medscape.com)
  • Hearing and ear anomalies are prevalent in patients with Fanconi anemia (FA). (fanconi.org)
  • Anatomical differences in eardrums of patients with Fanconi anemia. (fanconi.org)
  • An analysis of 754 patients in the International Fanconi Anemia Registry (IFAR) suggested that the average age of onset is 7.6 years. (wikidoc.org)
  • Will aplastic anaemia patients be able to have the coronavirus vaccine? (theaat.org.uk)
  • Exposure of primary cell cultures from FA patients to DEB or MMC results in chromosomal aberrations (breaks, radials, rearrangements) due to damaged DNA repair mechanisms that require functional products of the Fanconi anemia genes. (preventiongenetics.com)
  • Patients with Fanconi anemia with characteristic birth defects (eg, radial ray anomalies, poor growth, genitourinary abnormalities) are often treated by various medical specialists during infancy. (medscape.com)
  • Patients who have tumors that are characteristic of Fanconi anemia but who present without the usual risk factors for those tumors need to be screened for Fanconi anemia (eg, head and neck cancer in a 20-year-old woman who does not smoke or drink). (medscape.com)
  • Rosenberg PS, Socié G, Alter BP, Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. (medscape.com)
  • Liver tumors occurred in more than 45 patients, 43 of which were associated with androgen use, often in the context of aplastic anemia or other tumors, and were not usually malignant (although two thirds were histologically hepatomas, and the rest were adenomas). (medscape.com)
  • The contributing authors are physicians or clinical care providers with expertise in treating patients with Fanconi anemia (FA). (fasa.org.au)
  • Fosfomycin increases chromosome instability in lymphocytes from Fanconi Anemia patients. (bvsalud.org)
  • A doctor may prescribe administering iron into a vein to increase iron levels in the blood, especially for patients with severe anemia who have a chronic condition, such as celiac disease . (medicalnewstoday.com)
  • The Fanconi Anemia epidemiology section provides insights into the historical and current Fanconi Anemia patient pool and forecasted trends for seven individual major countries. (nagpurnewsdesk.net)
  • Aplastic anaemia often responds to administration of the androgenic steroids oxymetholone or Danazol, although the beneficial effect is not permanent and side effects are common. (theaat.org.uk)
  • A serious illness like aplastic anaemia sends shockwaves through your family. (theaat.org.uk)
  • Dyskeratosis congenita is an inherited type of aplastic anaemia causing premature ageing due to telomere repair abnormalities. (theaat.org.uk)
  • Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. (banglajol.info)
  • The Fanconi Anemia market report provides current treatment practices, emerging drugs, the market share of the individual therapies, and the current and forecasted Fanconi Anemia market size from 2019 to 2032, segmented by seven major markets. (rohtaknewsmagazine.net)
  • According to DelveInsight, the Fanconi Anemia market in 7MM is expected to witness a major change in the study period 2019-2032. (rohtaknewsmagazine.net)
  • Subsequent cases were clinically diagnosed because of the combination of aplastic anemia and various characteristic physical anomalies (see Physical Examination). (medscape.com)
  • According to a study by Franklin O Smith (2017), Fanconi anemia has an estimated incidence of 1 case per 100,000 live births, a prevalence estimated at 1 to 5 per million with a carrier frequency of approximately 1 in 300. (rohtaknewsmagazine.net)
  • Possible probands with characteristic birth defects, undiagnosed cytopenias, or macrocytosis should be evaluated for Fanconi anemia. (medscape.com)
  • Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. (bvsalud.org)
  • Affected individuals experience extreme tiredness (fatigue) due to low numbers of red blood cells (anemia), frequent infections due to low numbers of white blood cells (neutropenia), and clotting problems due to low numbers of platelets (thrombocytopenia). (beds.ac.uk)
  • Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. (beds.ac.uk)
  • Fanconi's anemia (FA) is an autosomal recessive disorder characterized by constitutional aplastic anemia and congenital abnormalities. (hacettepe.edu.tr)
  • About 2% of FA cases are X-linked recessive, which means that if the mother carries one mutated Fanconi anemia allele on one X chromosome, a 50% chance exists that male offspring will present with Fanconi anemia. (wikipedia.org)
  • While at birth, blood count is usually normal, macrocytosis/megaloblastic anemia, defined as unusually large red blood cells, is the first detected abnormality, often within the first decade of life (median age of onset is 7 years). (wikipedia.org)
  • Fanconi anemia complementation group C protection against oxidative stress‑induced β‑cell apoptosis. (nih.gov)
  • Cite this: Topics in Pediatric Leukemia -- Fanconi's Anemia: New Insights - Medscape - Apr 06, 2005. (medscape.com)
  • Hematologists have tended to focus on aplastic anemia and leukemia. (nih.gov)
  • Fanconi anemia, breast/ovarian cancer, leukemia) ( 5 - 7 ). (frontiersin.org)
  • Failure to diagnose aplastic anemia or leukemia may lead to delays in treatment. (medscape.com)
  • In Fanconi anemia, that DNA repair is slowed. (dana-farber.org)
  • Fanconi anemia (FA) genes play critical roles in the repair of DNA lesions. (frontiersin.org)
  • Fanconi anemia and DNA replication repair. (ox.ac.uk)
  • 90% develop aplastic anemia (the inability to produce blood cells) by age 40. (wikipedia.org)
  • If a person does not receive treatment for anemia, they may be at risk of developing severe complications, such as heart problems. (medicalnewstoday.com)
  • It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi. (wikipedia.org)
  • Fanconi anemia is a blood disorder. (valleychildrens.org)
  • The risk of myelodysplastic syndrome in Fanconi anemia is about 5000-fold. (medscape.com)
  • The Ashkenazi Jewish Panel includes the following diseases: Bloom syndrome, Canavan disease, Fanconi anemia type C, familial dysautonomia, Gaucher disease, glycogen storage disease type 1a, Mucolipidosis IV, Neimann-Pick disease, and Tay-Sachs disease. (cdc.gov)
  • Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: findings from the German Fanconi Anemia Registry. (medscape.com)
  • Just like everything else with Fanconi anaemia, the risks and benefits for any medical decision should be weighed on a case-by-case basis and discussed with the patient's treating physician. (fasa.org.au)
  • What are the symptoms of Fanconi anemia? (dana-farber.org)
  • IV iron may deliver iron into the blood more efficiently and in higher doses than iron supplements, which can result in better management of anemia symptoms. (medicalnewstoday.com)
  • HLA-matched sibling hematopoietic stem cell transplantation for fanconi anemia: comparison of irradiation and nonirradiation containing conditioning regimens. (medscape.com)
  • There are different kinds of Fanconi's Anemia. (jewishmom.com)
  • Ruthie is the oldest person in the world with the Fanconi's anemia associated with Ashkenazi Jews. (jewishmom.com)
  • The genetic bases of Fanconi's anemia. (wikidata.org)
  • Go to Pediatric Chronic Anemia , Anemia of Prematurity , Donath-Landsteiner Hemolytic Anemia , Pediatric Acute Anemia , and Pediatric Megaloblastic Anemia for complete information on these topics. (medscape.com)
  • Treatment of Fanconi anemia may require many different medical specialists. (valleychildrens.org)
  • The Report also covers current Fanconi Anemia treatment practice/algorithm, market drivers, market barriers, and unmet medical needs to curate the best opportunities and assesses the underlying potential of the Fanconi Anemia market. (rohtaknewsmagazine.net)
  • Learn more about Fanconi Anemia treatment algorithms in different geographies, and patient journeys. (rohtaknewsmagazine.net)
  • Iron deficiency anemia is the most common type and typically responds well to treatment with medication, including iron supplements. (medicalnewstoday.com)
  • Medication treatment goals for anemia will differ depending on the type of anemia a person has and the underlying condition that is causing it. (medicalnewstoday.com)
  • Iron supplements are the most common treatment for anemia and can help replace iron levels in the body so that it can produce sufficient hemoglobin. (medicalnewstoday.com)
  • Physiologic anemias do not generally require extensive evaluation or treatment. (msdmanuals.com)
  • Fanconi anemia accounts for approximately 25% of the cases of aplastic anemia seen at large referral centers. (medscape.com)
  • The Fanconi anemia market size in the seven major markets was approximately USD 46 million in 2021. (rohtaknewsmagazine.net)
  • Fanconi anaemia is rare and occurs in 1 in 160,000 individuals worldwide. (theaat.org.uk)
  • Fanconi anemia is a very rare genetic condition. (valleychildrens.org)
  • These include novel resected and residual disease models based on careful macrodissection of rare en-bloc partial lobectomy specimens to liberate parallel GSC lines from the tumour core and adjacent infiltrated brain, which represent cells removed and those typically left behind after surgery. (whiterose.ac.uk)
  • The well-known cancer susceptibility genes BRCA1 and BRCA2 are also examples of FA genes (FANCS and FANCD1 respectively), and biallelic mutation of any of the two genes usually results in an embryonically lethal outcome, and should the proband come to term, experience a severe form of Fanconi anemia. (wikipedia.org)
  • Molecular and genealogical evidence for a founder effect in Fanconi anemia families of the Afrikaner population of South Africa. (medscape.com)
  • H. Joenje, K.J. Patel, The emerging genetic and molecular basis of Fanconi anaemia, Nat. (ox.ac.uk)
  • Funciona como andamio molecular para localizar y estabilizar estas proteínas en los sitios de recombinación homóloga. (bvsalud.org)
  • Cancer incidence in persons with Fanconi anemia. (medscape.com)
  • Fanconi anaemia is an inherited genetic condition. (theaat.org.uk)