A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)
Product of the retinoblastoma tumor suppressor gene. It is a nuclear phosphoprotein hypothesized to normally act as an inhibitor of cell proliferation. Rb protein is absent in retinoblastoma cell lines. It also has been shown to form complexes with the adenovirus E1A protein, the SV40 T antigen, and the human papilloma virus E7 protein.
Tumors or cancer of the RETINA.
Tumor suppressor genes located on human chromosome 13 in the region 13q14 and coding for a family of phosphoproteins with molecular weights ranging from 104 kDa to 115 kDa. One copy of the wild-type Rb gene is necessary for normal retinal development. Loss or inactivation of both alleles at this locus results in retinoblastoma.
Tumors or cancer of the EYE.
The surgical removal of the eyeball leaving the eye muscles and remaining orbital contents intact.
A family of basic helix-loop-helix transcription factors that control expression of a variety of GENES involved in CELL CYCLE regulation. E2F transcription factors typically form heterodimeric complexes with TRANSCRIPTION FACTOR DP1 or transcription factor DP2, and they have N-terminal DNA binding and dimerization domains. E2F transcription factors can act as mediators of transcriptional repression or transcriptional activation.
A negative regulator of the CELL CYCLE that undergoes PHOSPHORYLATION by CYCLIN-DEPENDENT KINASES. It contains a conserved pocket region that binds E2F4 TRANSCRIPTION FACTOR and interacts with viral ONCOPROTEINS such as POLYOMAVIRUS TUMOR ANTIGENS; ADENOVIRUS E1A PROTEINS; and PAPILLOMAVIRUS E7 PROTEINS.
A negative regulator of the CELL CYCLE that undergoes PHOSPHORYLATION by CYCLIN-DEPENDENT KINASES. RBL2 contains a conserved pocket region that binds E2F4 TRANSCRIPTION FACTOR and E2F5 TRANSCRIPTION FACTOR. RBL2 also interacts with viral ONCOPROTEINS such as POLYOMAVIRUS TUMOR ANTIGENS; ADENOVIRUS E1A PROTEINS; and PAPILLOMAVIRUS E7 PROTEINS.
A transcription factor that possesses DNA-binding and E2F-binding domains but lacks a transcriptional activation domain. It is a binding partner for E2F TRANSCRIPTION FACTORS and enhances the DNA binding and transactivation function of the DP-E2F complex.
An E2F transcription factor that interacts directly with RETINOBLASTOMA PROTEIN and CYCLIN A and activates GENETIC TRANSCRIPTION required for CELL CYCLE entry and DNA synthesis. E2F1 is involved in DNA REPAIR and APOPTOSIS.
A ubiquitously expressed regulatory protein that contains a retinoblastoma protein binding domain and an AT-rich interactive domain. The protein may play a role in recruiting HISTONE DEACETYLASES to the site of RETINOBLASTOMA PROTEIN-containing transcriptional repressor complexes.
Protein kinases that control cell cycle progression in all eukaryotes and require physical association with CYCLINS to achieve full enzymatic activity. Cyclin-dependent kinases are regulated by phosphorylation and dephosphorylation events.
The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.
Cyclin-dependent kinase 4 is a key regulator of G1 PHASE of the CELL CYCLE. It partners with CYCLIN D to phosphorylate RETINOBLASTOMA PROTEIN. CDK4 activity is inhibited by CYCLIN-DEPENDENT KINASE INHIBITOR P16.
The period of the CELL CYCLE preceding DNA REPLICATION in S PHASE. Subphases of G1 include "competence" (to respond to growth factors), G1a (entry into G1), G1b (progression), and G1c (assembly). Progression through the G1 subphases is effected by limiting growth factors, nutrients, or inhibitors.
A large family of regulatory proteins that function as accessory subunits to a variety of CYCLIN-DEPENDENT KINASES. They generally function as ENZYME ACTIVATORS that drive the CELL CYCLE through transitions between phases. A subset of cyclins may also function as transcriptional regulators.
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Protein encoded by the bcl-1 gene which plays a critical role in regulating the cell cycle. Overexpression of cyclin D1 is the result of bcl-1 rearrangement, a t(11;14) translocation, and is implicated in various neoplasms.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Proteins transcribed from the E1A genome region of ADENOVIRUSES which are involved in positive regulation of transcription of the early genes of host infection.
A product of the p16 tumor suppressor gene (GENES, P16). It is also called INK4 or INK4A because it is the prototype member of the INK4 CYCLIN-DEPENDENT KINASE INHIBITORS. This protein is produced from the alpha mRNA transcript of the p16 gene. The other gene product, produced from the alternatively spliced beta transcript, is TUMOR SUPPRESSOR PROTEIN P14ARF. Both p16 gene products have tumor suppressor functions.
A key regulator of CELL CYCLE progression. It partners with CYCLIN E to regulate entry into S PHASE and also interacts with CYCLIN A to phosphorylate RETINOBLASTOMA PROTEIN. Its activity is inhibited by CYCLIN-DEPENDENT KINASE INHIBITOR P27 and CYCLIN-DEPENDENT KINASE INHIBITOR P21.
Cyclin-dependent kinase 6 associates with CYCLIN D and phosphorylates RETINOBLASTOMA PROTEIN during G1 PHASE of the CELL CYCLE. It helps regulate the transition to S PHASE and its kinase activity is inhibited by CYCLIN-DEPENDENT KINASE INHIBITOR P18.
The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.
An E2F transcription factor that interacts directly with RETINOBLASTOMA PROTEIN and CYCLIN A. E2F3 regulates GENETIC TRANSCRIPTION required for CELL CYCLE entry and DNA synthesis.
ONCOGENE PROTEINS from papillomavirus that deregulate the CELL CYCLE of infected cells and lead to NEOPLASTIC CELL TRANSFORMATION. Papillomavirus E7 proteins have been shown to interact with various regulators of the cell cycle including RETINOBLASTOMA PROTEIN and certain cyclin-dependent kinase inhibitors.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Phase of the CELL CYCLE following G1 and preceding G2 when the entire DNA content of the nucleus is replicated. It is achieved by bidirectional replication at multiple sites along each chromosome.
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.
A family of cell cycle-dependent kinases that are related in structure to CDC28 PROTEIN KINASE; S CEREVISIAE; and the CDC2 PROTEIN KINASE found in mammalian species.
A 50-kDa protein that complexes with CYCLIN-DEPENDENT KINASE 2 in the late G1 phase of the cell cycle.
Polyomavirus antigens which cause infection and cellular transformation. The large T antigen is necessary for the initiation of viral DNA synthesis, repression of transcription of the early region and is responsible in conjunction with the middle T antigen for the transformation of primary cells. Small T antigen is necessary for the completion of the productive infection cycle.
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
An E2F transcription factor that represses GENETIC TRANSCRIPTION required for CELL CYCLE entry and DNA synthesis. E2F4 recruits chromatin remodeling factors indirectly to target gene PROMOTER REGIONS through RETINOBLASTOMA LIKE PROTEIN P130 and RETINOBLASTOMA LIKE PROTEIN P107.
A cyclin-dependent kinase inhibitor that coordinates the activation of CYCLIN and CYCLIN-DEPENDENT KINASES during the CELL CYCLE. It interacts with active CYCLIN D complexed to CYCLIN-DEPENDENT KINASE 4 in proliferating cells, while in arrested cells it binds and inhibits CYCLIN E complexed to CYCLIN-DEPENDENT KINASE 2.
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.
Transport proteins that carry specific substances in the blood or across cell membranes.
A cyclin-dependent kinase inhibitor that mediates TUMOR SUPPRESSOR PROTEIN P53-dependent CELL CYCLE arrest. p21 interacts with a range of CYCLIN-DEPENDENT KINASES and associates with PROLIFERATING CELL NUCLEAR ANTIGEN and CASPASE 3.
A retinoblastoma binding protein that is also a member of the Jumonji-domain histone demethylases. It has demethylation activity towards specific LYSINE residues found on HISTONE H3.
Established cell cultures that have the potential to propagate indefinitely.
Products of viral oncogenes, most commonly retroviral oncogenes. They usually have transforming and often protein kinase activities.
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.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
A cyclin subtype that has specificity for CDC2 PROTEIN KINASE and CYCLIN-DEPENDENT KINASE 2. It plays a role in progression of the CELL CYCLE through G1/S and G2/M phase transitions.
An E2F transcription factor that interacts directly with RETINOBLASTOMA PROTEIN and CYCLIN A. E2F2 activates GENETIC TRANSCRIPTION required for CELL CYCLE entry and DNA synthesis.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
A cyclin subtype that is specific for CYCLIN-DEPENDENT KINASE 4 and CYCLIN-DEPENDENT KINASE 6. Unlike most cyclins, cyclin D expression is not cyclical, but rather it is expressed in response to proliferative signals. Cyclin D may therefore play a role in cellular responses to mitogenic signals.
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.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)
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.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
A broadly expressed type D cyclin. Experiments using KNOCKOUT MICE suggest a role for cyclin D3 in LYMPHOCYTE development.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
The ten-layered nervous tissue membrane of the eye. It is continuous with the OPTIC NERVE and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the CHOROID and the inner surface with the VITREOUS BODY. The outer-most layer is pigmented, whereas the inner nine layers are transparent.
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
Proteins coded by oncogenes. They include proteins resulting from the fusion of an oncogene and another gene (ONCOGENE PROTEINS, FUSION).
A cell line derived from cultured tumor cells.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
A cyclin subtype that is found associated with CYCLIN-DEPENDENT KINASE 5; cyclin G associated kinase, and PROTEIN PHOSPHATASE 2.

Mitotic recombination map of 13cen-13q14 derived from an investigation of loss of heterozygosity in retinoblastomas. (1/879)

Loss of heterozygosity at tumor-suppressor loci is an important oncogenic mechanism first discovered in retinoblastomas. We explored this phenomenon by examining a set of matched retinoblastoma and leukocyte DNA samples from 158 patients informative for DNA polymorphisms. Loss of heterozygosity at the retinoblastoma locus (13q14) was observed in 101 cases, comprising 7 cases with a somatic deletion causing hemizygosity and 94 with homozygosity (isodisomy). Homozygosity was approximately equally frequent in tumors from male and female patients, among patients with a germ-line vs. somatic initial mutation, and among patients in whom the initial mutation occurred on the maternal vs. paternal allele. A set of 75 tumors exhibiting homozygosity was investigated with markers distributed in the interval 13cen-13q14. Forty-one tumors developed homozygosity at all informative marker loci, suggesting that homozygosity occurred through chromosomal nondisjunction. The remaining cases exhibited mitotic recombination. There was no statistically significant bias in apparent nondisjunction vs. mitotic recombination among male vs. female patients or among patients with germ-line vs. somatic initial mutations. We compared the positions of somatic recombination events in the analyzed interval with a previously reported meiotic recombination map. Although mitotic crossovers occurred throughout the assayed interval, they were more likely to occur proximally than a comparable number of meiotic crossovers. Finally, we observed four triple-crossover cases, suggesting negative interference for mitotic recombination, the opposite of what is usually observed for meiotic recombination.  (+info)

Involvement of retinoblastoma (Rb) and E2F transcription factors during photodynamic therapy of human epidermoid carcinoma cells A431. (2/879)

Photodynamic therapy (PDT), a promising new therapeutic modality for the management of a variety of solid malignancies and many non-malignant diseases, is a bimodal therapy using a porphyrin based photosensitizing chemical and visible light. The proper understanding of the mechanism of PDT-mediated cancer cell-kill may result in improving the efficacy of this treatment modality. Earlier we have shown (Proc. Natl. Acad. Sci. USA; 95: 6977-6982, 1998) that silicon phthalocyanine (Pc4)-PDT results in an induction of the cyclin kinase inhibitor WAF1/CIP1/p21 which, by inhibiting cyclins (E and D1) and cyclin dependent kinases (cdk2 and cdk6), results in a G0/G1-phase arrest followed by apoptosis in human epidermoid carcinoma cells A431. We have also demonstrated the generation of nitric oxide during PDT-mediated apoptosis (Cancer Res.; 58: 1785-1788, 1998). Retinoblastoma (pRb) and E2F family transcription factors are important proteins, which regulate the G1-->S transition in the cell cycle. Here, we provide evidence for the involvement of pRb-E2F/DP machinery as an important contributor of PDT-mediated cell cycle arrest and apoptosis. Western blot analysis demonstrated a decrease in the hyper-phosphorylated form of pRb at 3, 6 and 12 h post-PDT with a relative increase in hypo-phosphorylated pRb. Western blot analysis also revealed that PDT-caused decrease in phosphorylation of pRb occurs at serine-780. The ELISA data demonstrated a time dependent accumulation of hypo-phosphorylated pRb by PDT. This response was accompanied with down-regulation in the protein expression of all five E2F (1-5) family transcription factors, and their heterodimeric partners DP1 and DP2. These results suggest that Pc4-PDT of A431 cells results in a down regulation of hyper-phosphorylated pRb protein with a relative increase in hypo-phosphorylated pRb that, in turn, compromises with the availability of free E2F. We suggest that these events result in a stoppage of the cell cycle progression at G1-->S transition thereby leading to a G0/G1 phase arrest and a subsequent apoptotic cell death. These data provide an evidence for the involvement of pRb-E2F/DP machinery in PDT-mediated cell cycle arrest leading to apoptosis.  (+info)

Is sunlight an aetiological agent in the genesis of retinoblastoma? (3/879)

The incidence of unilateral, but not bilateral, retinoblastoma in human populations at different geographical locations increases significantly with ambient erythemal dose of ultraviolet B radiation from sunlight. This supports the hypothesis that sunlight plays a role in retinoblastoma formation.  (+info)

The golden age of retinal cell culture. (4/879)

In the late 1950s, the study of retinal cells in vitro was in its infancy. Today, retinal cell and tissue culture is routinely used for studies of cell growth, differentiation, cytotoxicity, gene expression, and cell death. This review discusses the major classifications of retinal cell and tissue culture, including primary cell/explant models, retinoblastoma cell lines, and genetically engineered cell lines. These topics are addressed in an historical perspective, coupled with present-day applications for this continually-developing technology.  (+info)

Cell cycle control, checkpoint mechanisms, and genotoxic stress. (5/879)

The ability of cells to maintain genomic integrity is vital for cell survival and proliferation. Lack of fidelity in DNA replication and maintenance can result in deleterious mutations leading to cell death or, in multicellular organisms, cancer. The purpose of this review is to discuss the known signal transduction pathways that regulate cell cycle progression and the mechanisms cells employ to insure DNA stability in the face of genotoxic stress. In particular, we focus on mammalian cell cycle checkpoint functions, their role in maintaining DNA stability during the cell cycle following exposure to genotoxic agents, and the gene products that act in checkpoint function signal transduction cascades. Key transitions in the cell cycle are regulated by the activities of various protein kinase complexes composed of cyclin and cyclin-dependent kinase (Cdk) molecules. Surveillance control mechanisms that check to ensure proper completion of early events and cellular integrity before initiation of subsequent events in cell cycle progression are referred to as cell cycle checkpoints and can generate a transient delay that provides the cell more time to repair damage before progressing to the next phase of the cycle. A variety of cellular responses are elicited that function in checkpoint signaling to inhibit cyclin/Cdk activities. These responses include the p53-dependent and p53-independent induction of Cdk inhibitors and the p53-independent inhibitory phosphorylation of Cdk molecules themselves. Eliciting proper G1, S, and G2 checkpoint responses to double-strand DNA breaks requires the function of the Ataxia telangiectasia mutated gene product. Several human heritable cancer-prone syndromes known to alter DNA stability have been found to have defects in checkpoint surveillance pathways. Exposures to several common sources of genotoxic stress, including oxidative stress, ionizing radiation, UV radiation, and the genotoxic compound benzo[a]pyrene, elicit cell cycle checkpoint responses that show both similarities and differences in their molecular signaling.  (+info)

Late diagnosis of retinoblastoma in a developing country. (6/879)

OBJECTIVES: To assess the diagnostic process of retinoblastoma in a developing country. STUDY DESIGN: Prospective survey of 95 consecutive parents of patients with retinoblastoma. RESULTS: Fifty six parents consulted initially with a paediatrician. Their children tended to be younger, with a significantly higher frequency of advanced disease. Only half of the patients who consulted with a paediatrician were appropriately referred to an ophthalmologist; the paediatrician underestimated the complaints in the remainder. Children taken to an ophthalmologist were older and had less advanced disease. In about three quarters of these children, a diagnosis of retinoblastoma was suspected by the ophthalmologist on the first visit. Parents of patients with more advanced disease consulted significantly later. Poor parental education correlated significantly with late consultation. Lack of health insurance and living outside Buenos Aires City correlated significantly with an increased risk of extraocular disease. CONCLUSIONS: Paediatricians are the first health professional seen by most children with retinoblastoma. However, the diagnosis is not readily established. There is also a delay in consultation by parents, which is significantly longer in cases with advanced extraocular disease. Socioeconomic factors and access to health care might play a role in delayed diagnosis.  (+info)

Disseminated retinoblastoma successfully treated with myeloablative chemotherapy--implication for molecular detection of minimal residual disease. (7/879)

A useful marker for detecting minimal residual disease (MRD) has not been established yet in retinoblastoma. We assessed neuroendocrine protein gene product 9.5 (PGP9.5) expression, one of the markers for detecting MRD in neuroblastoma, in a patient with disseminated retinoblastoma. A 3-year-old boy with disseminated retinoblastoma in multiple bones and marrow was referred to our hospital. He received intensive treatment and has maintained CR for 48 months following myeloablative chemotherapy with hematopoietic stem cell transplantation (SCT). PGP9.5 expression was serially assessed by RT-PCR in peripheral blood mononuclear cells (PBMC), bone marrow cells (BMC) and mobilized peripheral blood stem cells (PBSC). Initially, his BMC consisted of 96% tumor cells which were proved to express PGP9.5 by RT-PCR. Moreover, PBMC were found to be positive for PGP9.5 indicating the presence of tumor cells in the peripheral blood. After intensive chemotherapy, PGP9.5 expression became negative in both PBMC and BMC. Prior to SCT, PBSC and BMC transplants were confirmed negative for PGP9.5 expression. It is suggested that PGP9.5 expression is a useful marker for evaluating therapeutic effects as well as detecting MRD in retinoblastoma.  (+info)

The retinoblastoma susceptibility gene product/Sp1 signalling pathway is modulated by Ca2+/calmodulin kinases II and IV activity. (8/879)

To investigate the possible link between Ca2+ signalling and cell cycle control we analysed Ca2+/calmodulin kinases (CamK) interaction with the retinoblastoma susceptibility gene product/SP1 pathway. CamK II and IV activate c-fos transcription through a short promoter region (-99 to -53) containing the retinoblastoma control element (RCE) and a cAMP response element (CRE) related sequences. Deletion analysis revealed that the RCE is a major CamK responsive element and is sufficient to confer CamK and Ca2+ regulation to a minimal promoter. Direct interactions between SP1 and RCE were confirmed by gel shift experiments. Using transient transfection experiments, we show that CamK-dependent transcription is regulated by the retinoblastoma (Rb) susceptibility gene product and the p107 Rb related protein. However, the stimulatory effects of CamKs and Rb on c-fos are blocked by overexpression of both proteins. These effects appear to be directly mediated by SP1 as shown by the use of a Gal4/SP1 fusion proteins. In conclusion, CamK II and IV, two major Ca2+-dependent intracellular effectors, may represent a molecular link between this second messenger transduction pathway and effectors that control cell cycle progression through Rb/SP1 signalling pathway.  (+info)

Retinoblastoma is a rare type of eye cancer that primarily affects young children, typically developing in the retina (the light-sensitive tissue at the back of the eye) before the age of 5. This malignancy originates from immature retinal cells called retinoblasts and can occur in one or both eyes (bilateral or unilateral).

There are two main types of Retinoblastoma: heritable and non-heritable. The heritable form is caused by a genetic mutation that can be inherited from a parent or may occur spontaneously during embryonic development. This type often affects both eyes and has an increased risk of developing other cancers. Non-heritable Retinoblastoma, on the other hand, occurs due to somatic mutations (acquired during life) that affect only the retinal cells in one eye.

Symptoms of Retinoblastoma may include a white pupil or glow in photographs, crossed eyes, strabismus (misalignment of the eyes), poor vision, redness, or swelling in the eye. Treatment options depend on various factors such as the stage and location of the tumor(s), patient's age, and overall health. These treatments may include chemotherapy, radiation therapy, laser therapy, cryotherapy (freezing), thermotherapy (heating), or enucleation (removal of the affected eye) in advanced cases.

Early detection and prompt treatment are crucial for improving the prognosis and preserving vision in children with Retinoblastoma. Regular eye examinations by a pediatric ophthalmologist or oncologist are recommended to monitor any changes and ensure timely intervention if necessary.

Retinoblastoma Protein (pRb or RB1) is a tumor suppressor protein that plays a critical role in regulating the cell cycle and preventing uncontrolled cell growth. It is encoded by the RB1 gene, located on chromosome 13. The retinoblastoma protein functions as a regulatory checkpoint in the cell cycle, preventing cells from progressing into the S phase (DNA synthesis phase) until certain conditions are met.

When pRb is in its active state, it binds to and inhibits the activity of E2F transcription factors, which promote the expression of genes required for DNA replication and cell cycle progression. Phosphorylation of pRb by cyclin-dependent kinases (CDKs) leads to the release of E2F factors, allowing them to activate their target genes and drive the cell into S phase.

Mutations in the RB1 gene can result in the production of a nonfunctional or reduced amount of pRb protein, leading to uncontrolled cell growth and an increased risk of developing retinoblastoma, a rare form of eye cancer, as well as other types of tumors.

Retinal neoplasms are abnormal growths or tumors that develop in the retina, which is the light-sensitive tissue located at the back of the eye. These neoplasms can be benign or malignant and can have varying effects on vision depending on their size, location, and type.

Retinal neoplasms can be classified into two main categories: primary and secondary. Primary retinal neoplasms originate from the retina or its surrounding tissues, while secondary retinal neoplasms spread to the retina from other parts of the body.

The most common type of primary retinal neoplasm is a retinoblastoma, which is a malignant tumor that typically affects children under the age of five. Other types of primary retinal neoplasms include capillary hemangioma, cavernous hemangioma, and combined hamartoma of the retina and RPE (retinal pigment epithelium).

Secondary retinal neoplasms are usually metastatic tumors that spread to the eye from other parts of the body, such as the lung, breast, or skin. These tumors can cause vision loss, eye pain, or floaters, and may require treatment with radiation therapy, chemotherapy, or surgery.

It is important to note that retinal neoplasms are relatively rare, and any symptoms or changes in vision should be evaluated by an ophthalmologist as soon as possible to rule out other potential causes and develop an appropriate treatment plan.

Retinoblastoma genes, often referred to as RB1, are tumor suppressor genes that play a critical role in regulating cell growth and division. When functioning properly, these genes help prevent the development of cancer by ensuring that cells divide and grow in a controlled manner.

Mutations in the Retinoblastoma gene can lead to retinoblastoma, a rare type of eye cancer that typically affects young children. There are two types of retinoblastoma: hereditary and non-hereditary. Hereditary retinoblastoma is caused by an inherited mutation in the RB1 gene, while non-hereditary retinoblastoma is caused by a mutation that occurs spontaneously during development.

When both copies of the RB1 gene are mutated or inactivated in a retinal cell, it can lead to uncontrolled cell growth and division, resulting in the formation of a tumor. Symptoms of retinoblastoma may include an unusual white pupil reflex, crossed eyes, or a lazy eye. If left untreated, retinoblastoma can spread to other parts of the body and be life-threatening.

It is important to note that mutations in the RB1 gene can also increase the risk of developing other types of cancer, such as lung, breast, and bladder cancer, later in life.

Eye neoplasms, also known as ocular tumors or eye cancer, refer to abnormal growths of tissue in the eye. These growths can be benign (non-cancerous) or malignant (cancerous). Eye neoplasms can develop in various parts of the eye, including the eyelid, conjunctiva, cornea, iris, ciliary body, choroid, retina, and optic nerve.

Benign eye neoplasms are typically slow-growing and do not spread to other parts of the body. They may cause symptoms such as vision changes, eye pain, or a noticeable mass in the eye. Treatment options for benign eye neoplasms include monitoring, surgical removal, or radiation therapy.

Malignant eye neoplasms, on the other hand, can grow and spread rapidly to other parts of the body. They may cause symptoms such as vision changes, eye pain, floaters, or flashes of light. Treatment options for malignant eye neoplasms depend on the type and stage of cancer but may include surgery, radiation therapy, chemotherapy, or a combination of these treatments.

It is important to note that early detection and treatment of eye neoplasms can improve outcomes and prevent complications. Regular eye exams with an ophthalmologist are recommended for early detection and prevention of eye diseases, including eye neoplasms.

Eye enucleation is a surgical procedure that involves the removal of the entire eyeball, leaving the eye muscles, eyelids, and orbital structures intact. This procedure is typically performed to treat severe eye conditions or injuries, such as uncontrollable pain, blindness, cancer, or trauma. After the eyeball is removed, an implant may be placed in the socket to help maintain its shape and appearance. The optic nerve and other surrounding tissues are cut during the enucleation procedure, which means that vision cannot be restored in the affected eye. However, the remaining eye structures can still function normally, allowing for regular blinking, tear production, and eyelid movement.

E2F transcription factors are a family of proteins that play crucial roles in the regulation of the cell cycle, DNA repair, and apoptosis (programmed cell death). These factors bind to specific DNA sequences called E2F responsive elements, located in the promoter regions of target genes. They can act as either transcriptional activators or repressors, depending on which E2F family member is involved, the presence of co-factors, and the phase of the cell cycle.

The E2F family consists of eight members, divided into two groups based on their functions: activator E2Fs (E2F1, E2F2, and E2F3a) and repressor E2Fs (E2F3b, E2F4, E2F5, E2F6, and E2F7). Activator E2Fs promote the expression of genes required for cell cycle progression, DNA replication, and repair. Repressor E2Fs, on the other hand, inhibit the transcription of these same genes as well as genes involved in differentiation and apoptosis.

Dysregulation of E2F transcription factors has been implicated in various human diseases, including cancer. Overexpression or hyperactivation of activator E2Fs can lead to uncontrolled cell proliferation and tumorigenesis, while loss of function or inhibition of repressor E2Fs can result in impaired differentiation and increased susceptibility to malignancies. Therefore, understanding the roles and regulation of E2F transcription factors is essential for developing novel therapeutic strategies against cancer and other diseases associated with cell cycle dysregulation.

Retinoblastoma-like protein p107, also known as RBL1 or p107, is a tumor suppressor protein that belongs to the family of "pocket proteins." This protein is encoded by the RBL1 gene in humans. It plays a crucial role in regulating the cell cycle and preventing uncontrolled cell growth, which can lead to cancer.

The p107 protein is structurally similar to the retinoblastoma protein (pRb) and functions in a related manner. Both proteins interact with E2F transcription factors to control the expression of genes required for DNA replication and cell division. When the p107 protein is phosphorylated by cyclin-dependent kinases during the G1 phase of the cell cycle, it releases E2F transcription factors, allowing them to activate the transcription of target genes necessary for S phase entry and DNA replication.

Retinoblastoma-like protein p107 is often inactivated or mutated in various human cancers, including retinoblastoma, small cell lung cancer, and certain types of sarcomas. Loss of p107 function can lead to uncontrolled cell growth and tumor formation. However, it's important to note that the role of p107 in cancer development is complex and may depend on its interactions with other proteins and signaling pathways.

Retinoblastoma-like protein p130, also known as RBL2 or p130, is a tumor suppressor protein that belongs to the family of retinoblastoma proteins (pRb, p107, and p130). It is encoded by the RBL2 gene located on chromosome 12q13. This protein plays crucial roles in regulating the cell cycle, differentiation, and apoptosis.

The primary function of p130 is to negatively control the transition from the G1 phase to the S phase of the cell cycle. It does so by forming a complex with E2F4 or E2F5 transcription factors, which results in the repression of genes required for DNA replication and cell cycle progression. The activity of p130 is regulated through phosphorylation by cyclin-dependent kinases (CDKs) during the cell cycle. When p130 is hypophosphorylated, it can bind to E2F4/E2F5 and repress target gene transcription; however, when p130 gets phosphorylated by CDKs, it releases from E2F4/E2F5, leading to the activation of cell cycle-promoting genes.

Retinoblastoma-like protein p130 is often inactivated or downregulated in various human cancers, including retinoblastoma, lung cancer, breast cancer, and others. This loss of function contributes to uncontrolled cell growth and tumorigenesis. Therefore, understanding the role of p130 in cell cycle regulation and its dysfunction in cancer provides valuable insights into potential therapeutic targets for cancer treatment.

Transcription factor DP1 (TFDP1) is not a specific medical term, but it is a term used in molecular biology and genetics. TFDP1 is a protein that functions as a transcription factor, which means it helps regulate the expression of genes by binding to specific DNA sequences and controlling the rate of transcription of those genes into messenger RNA (mRNA).

TFDP1 typically forms a complex with another transcription factor called E2F, and this complex plays a critical role in regulating the cell cycle and promoting cell division. TFDP1 can act as both a transcriptional activator and repressor, depending on which E2F family member it binds to and the specific context of the cell.

Mutations or dysregulation of TFDP1 have been implicated in various human diseases, including cancer. For example, overexpression of TFDP1 has been observed in several types of cancer, such as breast, lung, and prostate cancer, and is often associated with poor clinical outcomes. Therefore, understanding the role of TFDP1 in gene regulation and cellular processes may provide insights into the development of new therapeutic strategies for treating human diseases.

E2F1 is a member of the E2F family of transcription factors, which are involved in the regulation of cell cycle progression and apoptosis (programmed cell death). Specifically, E2F1 plays a role as a transcriptional activator, binding to specific DNA sequences and promoting the expression of genes required for the G1/S transition of the cell cycle.

In more detail, E2F1 forms a complex with a retinoblastoma protein (pRb) in the G0 and early G1 phases of the cell cycle. When pRb is phosphorylated by cyclin-dependent kinases during the late G1 phase, E2F1 is released and can then bind to its target DNA sequences and activate transcription of genes involved in DNA replication and cell cycle progression.

However, if E2F1 is overexpressed or activated inappropriately, it can also promote apoptosis, making it a key player in both cell proliferation and cell death pathways. Dysregulation of E2F1 has been implicated in the development of various human cancers, including breast, lung, and prostate cancer.

Retinoblastoma-Binding Protein 1 (RBP1) is not a medical term itself, but it is a protein that has been studied in the context of cancer research, including retinoblastoma. According to scientific and medical literature, RBP1 is a protein that binds to the retinoblastoma protein (pRb), which is a tumor suppressor protein. The binding of RBP1 to pRb can influence the activity of this tumor suppressor and contribute to the regulation of the cell cycle and cell growth.

In the case of retinoblastoma, mutations in the RB1 gene, which encodes for the pRb protein, have been identified as a cause of this rare eye cancer in children. However, the role of RBP1 in retinoblastoma or other cancers is not well-defined and requires further research to fully understand its implications in disease development and potential therapeutic targets.

Cyclin-dependent kinases (CDKs) are a family of serine/threonine protein kinases that play crucial roles in regulating the cell cycle, transcription, and other cellular processes. They are activated by binding to cyclin proteins, which accumulate and degrade at specific stages of the cell cycle. The activation of CDKs leads to phosphorylation of various downstream target proteins, resulting in the promotion or inhibition of different cell cycle events. Dysregulation of CDKs has been implicated in several human diseases, including cancer, and they are considered important targets for drug development.

The cell cycle is a series of events that take place in a cell leading to its division and duplication. It consists of four main phases: G1 phase, S phase, G2 phase, and M phase.

During the G1 phase, the cell grows in size and synthesizes mRNA and proteins in preparation for DNA replication. In the S phase, the cell's DNA is copied, resulting in two complete sets of chromosomes. During the G2 phase, the cell continues to grow and produces more proteins and organelles necessary for cell division.

The M phase is the final stage of the cell cycle and consists of mitosis (nuclear division) and cytokinesis (cytoplasmic division). Mitosis results in two genetically identical daughter nuclei, while cytokinesis divides the cytoplasm and creates two separate daughter cells.

The cell cycle is regulated by various checkpoints that ensure the proper completion of each phase before progressing to the next. These checkpoints help prevent errors in DNA replication and division, which can lead to mutations and cancer.

Cyclin-Dependent Kinase 4 (CDK4) is a type of enzyme, specifically a serine/threonine protein kinase, that plays a crucial role in the regulation of the cell cycle. The cell cycle is the series of events that take place in a cell leading to its division and duplication. CDK4, when activated by binding to cyclin D, helps to promote the transition from the G1 phase to the S phase of the cell cycle. This transition is a critical point in the regulation of cell growth and division, and dysregulation of this process can lead to uncontrolled cell growth and cancer. CDK4 inhibitors are used in the treatment of certain types of cancer, such as breast and lung cancer, to block the activity of CDK4 and prevent tumor cell proliferation.

The G1 phase, or Gap 1 phase, is the first phase of the cell cycle, during which the cell grows in size and synthesizes mRNA and proteins in preparation for subsequent steps leading to mitosis. During this phase, the cell also checks its growth and makes sure that it is large enough to proceed through the cell cycle. If the cell is not large enough, it will arrest in the G1 phase until it has grown sufficiently. The G1 phase is followed by the S phase, during which DNA replication occurs.

Cyclins are a family of regulatory proteins that play a crucial role in the cell cycle, which is the series of events that take place as a cell grows, divides, and produces two daughter cells. They are called cyclins because their levels fluctuate or cycle during the different stages of the cell cycle.

Cyclins function as subunits of serine/threonine protein kinase complexes, forming an active enzyme that adds phosphate groups to other proteins, thereby modifying their activity. This post-translational modification is a critical mechanism for controlling various cellular processes, including the regulation of the cell cycle.

There are several types of cyclins (A, B, D, and E), each of which is active during specific phases of the cell cycle:

1. Cyclin D: Expressed in the G1 phase, it helps to initiate the cell cycle by activating cyclin-dependent kinases (CDKs) that promote progression through the G1 restriction point.
2. Cyclin E: Active during late G1 and early S phases, it forms a complex with CDK2 to regulate the transition from G1 to S phase, where DNA replication occurs.
3. Cyclin A: Expressed in the S and G2 phases, it associates with both CDK2 and CDK1 to control the progression through the S and G2 phases and entry into mitosis (M phase).
4. Cyclin B: Active during late G2 and M phases, it partners with CDK1 to regulate the onset of mitosis by controlling the breakdown of the nuclear envelope, chromosome condensation, and spindle formation.

The activity of cyclins is tightly controlled through several mechanisms, including transcriptional regulation, protein degradation, and phosphorylation/dephosphorylation events. Dysregulation of cyclin expression or function can lead to uncontrolled cell growth and proliferation, which are hallmarks of cancer.

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.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Cyclin D1 is a type of cyclin protein that plays a crucial role in the regulation of the cell cycle, which is the process by which cells divide and grow. Specifically, Cyclin D1 is involved in the transition from the G1 phase to the S phase of the cell cycle. It does this by forming a complex with and acting as a regulatory subunit of cyclin-dependent kinase 4 (CDK4) or CDK6, which phosphorylates and inactivates the retinoblastoma protein (pRb). This allows the E2F transcription factors to be released and activate the transcription of genes required for DNA replication and cell cycle progression.

Overexpression of Cyclin D1 has been implicated in the development of various types of cancer, as it can lead to uncontrolled cell growth and division. Therefore, Cyclin D1 is an important target for cancer therapy, and inhibitors of CDK4/6 have been developed to treat certain types of cancer that overexpress Cyclin D1.

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

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

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

Adenovirus E1A proteins are the early region 1A proteins encoded by adenoviruses, a group of viruses that commonly cause respiratory infections in humans. The E1A proteins play a crucial role in the regulation of the viral life cycle and host cell response. They function as transcriptional regulators, interacting with various cellular proteins to modulate gene expression and promote viral replication.

There are two major E1A protein isoforms, 289R and 243R, which differ in their amino-terminal regions due to alternative splicing of the E1A mRNA. The 289R isoform contains an additional 46 amino acids at its N-terminus compared to the 243R isoform. Both isoforms share conserved regions, including a strong transcriptional activation domain and a binding domain for cellular proteins involved in transcriptional regulation, such as retinoblastoma protein (pRb) and p300/CBP.

The interaction between E1A proteins and pRb is particularly important because it leads to the release of E2F transcription factors, which are essential for the initiation of viral DNA replication. By binding and inactivating pRb, E1A proteins promote the expression of cell cycle-regulated genes that facilitate viral replication in dividing cells.

In summary, adenovirus E1A proteins are multifunctional regulatory proteins involved in the control of viral gene expression and host cell response during adenovirus infection. They manipulate cellular transcription factors and pathways to create a favorable environment for viral replication.

Cyclin-Dependent Kinase Inhibitor p16, also known as CDKN2A or INK4a, is a protein that regulates the cell cycle. It functions as an inhibitor of cyclin-dependent kinases (CDKs) 4 and 6, which are enzymes that play a crucial role in regulating the progression of the cell cycle.

The p16 protein is produced in response to various signals, including DNA damage and oncogene activation, and its main function is to prevent the phosphorylation and activation of the retinoblastoma protein (pRb) by CDK4/6. When pRb is not phosphorylated, it binds to and inhibits the E2F transcription factor, which results in the suppression of genes required for cell cycle progression.

Therefore, p16 acts as a tumor suppressor protein by preventing the uncontrolled proliferation of cells that can lead to cancer. Mutations or deletions in the CDKN2A gene, which encodes the p16 protein, have been found in many types of human cancers, including lung, breast, and head and neck cancers.

Cyclin-Dependent Kinase 2 (CDK2) is a type of enzyme that plays a crucial role in the regulation of the cell cycle, which is the process by which cells grow and divide. CDK2 is activated when it binds to a regulatory subunit called a cyclin.

During the cell cycle, CDK2 helps to control the progression from the G1 phase to the S phase, where DNA replication occurs. Specifically, CDK2 phosphorylates various target proteins that are involved in the regulation of DNA replication and the initiation of mitosis, which is the process of cell division.

CDK2 activity is tightly regulated through a variety of mechanisms, including phosphorylation, dephosphorylation, and protein degradation. Dysregulation of CDK2 activity has been implicated in various human diseases, including cancer. Therefore, CDK2 is an important target for the development of therapies aimed at treating these diseases.

Cyclin-Dependent Kinase 6 (CDK6) is a type of enzyme known as a protein kinase, which adds phosphate groups to other proteins in the cell. CDK6 is primarily involved in regulating the cell cycle, the process by which cells divide and grow.

CDK6 functions by binding to cyclin proteins, forming active complexes that help drive the progression of the cell cycle from one phase to the next. Specifically, CDK6 plays a crucial role in the transition from the G1 phase to the S phase of the cell cycle, where DNA replication occurs.

CDK6 activity is tightly regulated by various mechanisms, including phosphorylation and dephosphorylation, as well as by binding to inhibitory proteins such as p16INK4a and p21CIP1. Dysregulation of CDK6 has been implicated in the development of several types of cancer, making it a potential target for cancer therapy.

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

E2F3 is a member of the E2F family of transcription factors, which are involved in the regulation of cell cycle progression and apoptosis (programmed cell death). Specifically, E2F3 can function as either an activator or a repressor of transcription, depending on whether it forms a complex with a retinoblastoma protein (pRb) or not.

When E2F3 is bound to pRb, it acts as a transcriptional repressor and helps to keep cells in a quiescent state by preventing the expression of genes required for DNA replication and cell cycle progression. However, when pRb is phosphorylated and inactivated by cyclin-dependent kinases during the G1 phase of the cell cycle, E2F3 is released and can then function as a transcriptional activator.

Activation of E2F3 leads to the expression of genes required for DNA replication and entry into the S phase of the cell cycle. In addition to its role in regulating the cell cycle, E2F3 has also been implicated in the development and progression of various types of cancer, including breast, lung, and prostate cancer. Dysregulation of E2F3 activity can contribute to uncontrolled cell growth and tumor formation.

Papillomavirus E7 proteins are small, viral regulatory proteins encoded by the E7 gene in papillomaviruses (HPVs). These proteins play a crucial role in the life cycle of HPVs and are associated with the development of various types of cancer, most notably cervical cancer.

The E7 protein functions as a transcriptional activator and can bind to and degrade the retinoblastoma protein (pRb), which is a tumor suppressor. By binding to and inactivating pRb, E7 promotes the expression of genes required for cell cycle progression, leading to uncontrolled cell growth and proliferation.

E7 proteins are also capable of inducing genetic alterations, such as chromosomal instability and DNA damage, which can contribute to the development of cancer. Additionally, E7 has been shown to inhibit apoptosis (programmed cell death) and promote angiogenesis (the formation of new blood vessels), further contributing to tumor growth and progression.

Overall, Papillomavirus E7 proteins are important oncogenic factors that play a central role in the development of HPV-associated cancers.

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

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

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

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

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

In the context of cell biology, "S phase" refers to the part of the cell cycle during which DNA replication occurs. The "S" stands for synthesis, reflecting the active DNA synthesis that takes place during this phase. It is preceded by G1 phase (gap 1) and followed by G2 phase (gap 2), with mitosis (M phase) being the final stage of the cell cycle.

During S phase, the cell's DNA content effectively doubles as each chromosome is replicated to ensure that the two resulting daughter cells will have the same genetic material as the parent cell. This process is carefully regulated and coordinated with other events in the cell cycle to maintain genomic stability.

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.

CDC2 and CDC28 are members of the Serine/Threonine protein kinase family, which play crucial roles in the regulation of the cell cycle. These kinases were originally identified in yeast (CDC28) and humans (CDC2), but they are highly conserved across eukaryotes.

CDC2-CDC28 Kinases function as a part of larger complexes, often associated with cyclins, to control different phases of the cell cycle by phosphorylating specific substrates at key regulatory points. The activity of CDC2-CDC28 Kinases is tightly regulated through various mechanisms, including phosphorylation, dephosphorylation, and protein binding interactions.

During the G2 phase of the cell cycle, CDC2-CDC28 Kinases are inactivated by phosphorylation at specific residues (Tyr15 and Thr14). As the cell approaches mitosis, a family of phosphatases called Cdc25 removes these inhibitory phosphates, leading to activation of the kinase. Activated CDC2-CDC28 Kinases then initiate mitotic processes such as chromosome condensation and nuclear envelope breakdown.

In summary, CDC2-CDC28 Kinases are essential regulators of the eukaryotic cell cycle, controlling various aspects of cell division through phosphorylation of specific substrates. Their activity is tightly regulated to ensure proper progression through the cell cycle and prevent uncontrolled cell growth, which can lead to diseases such as cancer.

Cyclin E is a type of cyclin protein that plays a crucial role in the regulation of the cell cycle, particularly during the G1 phase and the transition to the S phase. It functions as a regulatory subunit of the Cyclin-dependent kinase 2 (CDK2) complex, which is responsible for promoting the progression of the cell cycle.

Cyclin E is synthesized during the late G1 phase of the cell cycle and accumulates to high levels until it forms a complex with CDK2. The Cyclin E-CDK2 complex then phosphorylates several target proteins, leading to the activation of various downstream pathways that promote DNA replication and cell cycle progression.

The regulation of Cyclin E expression and activity is tightly controlled through multiple mechanisms, including transcriptional regulation, protein stability, and proteasomal degradation. Dysregulation of Cyclin E has been implicated in various human cancers, including breast, ovarian, and lung cancer, due to its role in promoting uncontrolled cell proliferation and genomic instability.

Polyomavirus transforming antigens refer to specific proteins expressed by polyomaviruses that can induce cellular transformation and lead to the development of cancer. These antigens are called large T antigen (T-Ag) and small t antigen (t-Ag). They manipulate key cellular processes, such as cell cycle regulation and DNA damage response, leading to uncontrolled cell growth and malignant transformation.

The large T antigen is a multifunctional protein that plays a crucial role in viral replication and transformation. It has several domains with different functions:

1. Origin binding domain (OBD): Binds to the viral origin of replication, initiating DNA synthesis.
2. Helicase domain: Unwinds double-stranded DNA during replication.
3. DNA binding domain: Binds to specific DNA sequences and acts as a transcriptional regulator.
4. Protein phosphatase 1 (PP1) binding domain: Recruits PP1 to promote viral DNA replication and inhibit host cell defense mechanisms.
5. p53-binding domain: Binds and inactivates the tumor suppressor protein p53, promoting cell cycle progression and preventing apoptosis.
6. Rb-binding domain: Binds to and inactivates the retinoblastoma protein (pRb), leading to deregulation of the cell cycle and uncontrolled cell growth.

The small t antigen shares a common N-terminal region with large T antigen but lacks some functional domains, such as the OBD and helicase domain. Small t antigen can also bind to and inactivate PP1 and pRb, contributing to transformation. However, its primary role is to stabilize large T antigen by preventing its proteasomal degradation.

Polyomavirus transforming antigens are associated with various human cancers, such as Merkel cell carcinoma (caused by Merkel cell polyomavirus) and some forms of brain tumors, sarcomas, and lymphomas (associated with simian virus 40).

Tumor suppressor protein p53, also known as p53 or tumor protein p53, is a nuclear phosphoprotein that plays a crucial role in preventing cancer development and maintaining genomic stability. It does so by regulating the cell cycle and acting as a transcription factor for various genes involved in apoptosis (programmed cell death), DNA repair, and cell senescence (permanent cell growth arrest).

In response to cellular stress, such as DNA damage or oncogene activation, p53 becomes activated and accumulates in the nucleus. Activated p53 can then bind to specific DNA sequences and promote the transcription of target genes that help prevent the proliferation of potentially cancerous cells. These targets include genes involved in cell cycle arrest (e.g., CDKN1A/p21), apoptosis (e.g., BAX, PUMA), and DNA repair (e.g., GADD45).

Mutations in the TP53 gene, which encodes p53, are among the most common genetic alterations found in human cancers. These mutations often lead to a loss or reduction of p53's tumor suppressive functions, allowing cancer cells to proliferate uncontrollably and evade apoptosis. As a result, p53 has been referred to as "the guardian of the genome" due to its essential role in preventing tumorigenesis.

E2F4 is a member of the E2F family of transcription factors, which are involved in the regulation of cell cycle progression and differentiation. E2F4 can function as both a transcriptional activator and repressor, depending on which proteins it interacts with. It primarily acts as a repressor, binding to DNA and preventing the transcription of target genes involved in cell cycle progression. E2F4 has been shown to play important roles in various biological processes, including development, differentiation, and tumor suppression.

Cyclin-Dependent Kinase Inhibitor p27, also known as CDKN1B or p27Kip1, is a protein that regulates the cell cycle. It inhibits the activity of certain cyclin-dependent kinases (CDKs), which are enzymes that play key roles in regulating the progression of the cell cycle.

The cell cycle is a series of events that cells undergo as they grow and divide. Cyclins and CDKs help to control the different stages of the cell cycle by activating and deactivating various proteins at specific times. The p27 protein acts as a brake on the cell cycle, preventing cells from dividing too quickly or abnormally.

When p27 binds to a CDK-cyclin complex, it prevents the complex from phosphorylating its target proteins, which are necessary for the progression of the cell cycle. By inhibiting CDK activity, p27 helps to ensure that cells divide only when the proper conditions are met.

Mutations in the CDKN1B gene, which encodes p27, have been associated with several types of cancer, including breast, lung, and prostate cancer. These mutations can lead to decreased levels of p27 or impaired function, allowing cells to divide uncontrollably and form tumors.

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.

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

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

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

Cyclin-dependent kinase inhibitor p21, also known as CDKN1A or p21/WAF1/CIP1, is a protein that regulates the cell cycle. It inhibits the activity of cyclin-dependent kinases (CDKs), which are enzymes that play crucial roles in controlling the progression of the cell cycle.

The binding of p21 to CDKs prevents the phosphorylation and activation of downstream targets, leading to cell cycle arrest. This protein is transcriptionally activated by tumor suppressor protein p53 in response to DNA damage or other stress signals, and it functions as an important mediator of p53-dependent growth arrest.

By inhibiting CDKs, p21 helps to ensure that cells do not proceed through the cell cycle until damaged DNA has been repaired, thereby preventing the propagation of potentially harmful mutations. Additionally, p21 has been implicated in other cellular processes such as apoptosis, differentiation, and senescence. Dysregulation of p21 has been associated with various human diseases, including cancer.

Retinoblastoma-Binding Protein 2 (RBP2) is a protein that is encoded by the EZH2 gene in humans. It is a core component of the Polycomb Repressive Complex 2 (PRC2), which is a multi-subunit protein complex involved in the epigenetic regulation of gene expression through histone modification. Specifically, RBP2/EZH2 functions as a histone methyltransferase that trimethylates lysine 27 on histone H3 (H3K27me3), leading to transcriptional repression of target genes. Retinoblastoma-Binding Protein 2 was so named because it was initially identified as a protein that interacts with the retinoblastoma protein (pRb), a tumor suppressor that regulates cell cycle progression and differentiation. However, its role in the development of retinoblastoma or other cancers is not well understood.

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.

Oncogene proteins, viral, are cancer-causing proteins that are encoded by the genetic material (DNA or RNA) of certain viruses. These viral oncogenes can be acquired through infection with retroviruses, such as human immunodeficiency virus (HIV), human T-cell leukemia virus (HTLV), and certain types of papillomaviruses and polyomaviruses.

When these viruses infect host cells, they can integrate their genetic material into the host cell's genome, leading to the expression of viral oncogenes. These oncogenes may then cause uncontrolled cell growth and division, ultimately resulting in the formation of tumors or cancers. The process by which viruses contribute to cancer development is complex and involves multiple steps, including the alteration of signaling pathways that regulate cell proliferation, differentiation, and survival.

Examples of viral oncogenes include the v-src gene found in the Rous sarcoma virus (RSV), which causes chicken sarcoma, and the E6 and E7 genes found in human papillomaviruses (HPVs), which are associated with cervical cancer and other anogenital cancers. Understanding viral oncogenes and their mechanisms of action is crucial for developing effective strategies to prevent and treat virus-associated cancers.

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.

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

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

Cyclin A is a type of cyclin protein that regulates the progression of the cell cycle, particularly through the G1 and S phases. It forms a complex with and acts as a regulatory subunit for cyclin-dependent kinases (CDKs), specifically CDK2 and CDK1. The activation of Cyclin A-CDK complexes leads to phosphorylation of various target proteins, which in turn regulates DNA replication and the transition to mitosis.

Cyclin A levels rise during the late G1 phase and peak during the S phase, after which they decline rapidly during the G2 phase. Any abnormalities in Cyclin A regulation or expression can contribute to uncontrolled cell growth and cancer development.

E2F2 is a member of the E2F family of transcription factors, which are involved in the regulation of cell cycle progression and differentiation. Specifically, E2F2 forms a complex with a retinoblastoma protein (pRb) to regulate the expression of genes required for DNA replication and cell cycle progression. When pRb is phosphorylated and inactivated by cyclin-dependent kinases during the G1 phase of the cell cycle, E2F2 is released and can activate the transcription of its target genes, promoting the transition from G1 to S phase. In addition to its role in the cell cycle, E2F2 has also been implicated in the regulation of apoptosis and differentiation in certain contexts.

Human chromosomes 13-15 are part of a set of 23 pairs of chromosomes found in the cells of the human body. Chromosomes are thread-like structures that contain genetic material, or DNA, that is inherited from each parent. They are responsible for the development and function of all the body's organs and systems.

Chromosome 13 is a medium-sized chromosome and contains an estimated 114 million base pairs of DNA. It is associated with several genetic disorders, including cri du chat syndrome, which is caused by a deletion on the short arm of the chromosome. Chromosome 13 also contains several important genes, such as those involved in the production of enzymes and proteins that help regulate growth and development.

Chromosome 14 is a medium-sized chromosome and contains an estimated 107 million base pairs of DNA. It is known to contain many genes that are important for the normal functioning of the brain and nervous system, as well as genes involved in the production of immune system proteins. Chromosome 14 is also associated with a number of genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion on the short arm of the chromosome.

Chromosome 15 is a medium-sized chromosome and contains an estimated 102 million base pairs of DNA. It is associated with several genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by abnormalities in the expression of genes on the chromosome. Chromosome 15 also contains important genes involved in the regulation of growth and development, as well as genes that play a role in the production of neurotransmitters, the chemical messengers of the brain.

It is worth noting that while chromosomes 13-15 are important for normal human development and function, abnormalities in these chromosomes can lead to a variety of genetic disorders and developmental issues.

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

Cyclin D is a type of cyclin protein that plays a crucial role in the regulation of the cell cycle, which is the process by which cells grow and divide. Specifically, Cyclin D is involved in the G1 phase of the cell cycle and works in conjunction with its partner enzyme, cyclin-dependent kinase 4 (CDK4) or CDK6, to phosphorylate and regulate the activity of several key proteins that control the transition from G1 to S phase.

There are several different types of Cyclin D proteins, including Cyclin D1, Cyclin D2, and Cyclin D3, which are encoded by different genes but share similar structures and functions. Overexpression or dysregulation of Cyclin D has been implicated in the development of various human cancers, as it can lead to uncontrolled cell growth and division. Therefore, understanding the role of Cyclin D in the cell cycle and its regulation is important for developing potential cancer therapies.

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.

Cell differentiation is the process by which a less specialized cell, or stem cell, becomes a more specialized cell type with specific functions and structures. This process involves changes in gene expression, which are regulated by various intracellular signaling pathways and transcription factors. Differentiation results in the development of distinct cell types that make up tissues and organs in multicellular organisms. It is a crucial aspect of embryonic development, tissue repair, and maintenance of homeostasis in the body.

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

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

Osteosarcoma is defined as a type of cancerous tumor that arises from the cells that form bones (osteoblasts). It's the most common primary bone cancer, and it typically develops in the long bones of the body, such as the arms or legs, near the growth plates. Osteosarcoma can metastasize (spread) to other parts of the body, including the lungs, making it a highly malignant form of cancer. Symptoms may include bone pain, swelling, and fractures. Treatment usually involves a combination of surgery, chemotherapy, and/or radiation therapy.

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.

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

The Western blotting procedure involves several steps:

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

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

Cyclin D3 is a type of cyclin protein that regulates the cell cycle, particularly during the G1 phase. It forms a complex with and acts as a regulatory subunit of CDK4 or CDK6, which are cyclin-dependent kinases. This complex plays a crucial role in phosphorylating and inactivating the retinoblastoma protein (pRb), leading to the release of E2F transcription factors that promote the expression of genes required for DNA replication and cell cycle progression into the S phase.

Cyclin D3 is primarily expressed in activated lymphocytes and is essential for normal immune function, as well as in certain tissues during development. Alterations in CYCLIN D3 gene expression or function have been implicated in several types of cancer, such as leukemias and lymphomas, due to their role in uncontrolled cell proliferation.

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

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

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

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

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

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

The retina is the innermost, light-sensitive layer of tissue in the eye of many vertebrates and some cephalopods. It receives light that has been focused by the cornea and lens, converts it into neural signals, and sends these to the brain via the optic nerve. The retina contains several types of photoreceptor cells including rods (which handle vision in low light) and cones (which are active in bright light and are capable of color vision).

In medical terms, any pathological changes or diseases affecting the retinal structure and function can lead to visual impairment or blindness. Examples include age-related macular degeneration, diabetic retinopathy, retinal detachment, and retinitis pigmentosa among others.

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

Oncogene proteins are derived from oncogenes, which are genes that have the potential to cause cancer. Normally, these genes help regulate cell growth and division, but when they become altered or mutated, they can become overactive and lead to uncontrolled cell growth and division, which is a hallmark of cancer. Oncogene proteins can contribute to tumor formation and progression by promoting processes such as cell proliferation, survival, angiogenesis, and metastasis. Examples of oncogene proteins include HER2/neu, EGFR, and BCR-ABL.

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

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

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

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

Optic nerve neoplasms refer to abnormal growths or tumors that develop within or near the optic nerve. These tumors can be benign (non-cancerous) or malignant (cancerous).

Benign optic nerve neoplasms include optic nerve meningiomas and schwannomas, which originate from the sheaths surrounding the optic nerve. They usually grow slowly and may not cause significant vision loss, but they can lead to compression of the optic nerve, resulting in visual field defects or optic disc swelling (papilledema).

Malignant optic nerve neoplasms are rare but more aggressive. The most common type is optic nerve glioma, which arises from the glial cells within the optic nerve. These tumors can quickly damage the optic nerve and cause severe vision loss.

It's important to note that any optic nerve neoplasm requires prompt medical evaluation and treatment, as they can potentially lead to significant visual impairment or even blindness if left untreated.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

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

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

Examples of proto-oncogene proteins include:

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

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

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

Cyclin G is a type of protein that belongs to the cyclin family, which are involved in the regulation of the cell cycle. The human Cyclin G gene encodes two isoforms, Cyclin G1 and Cyclin G2, which share a similar structure but have different functions.

Cyclin G1 is known to play a role in the negative regulation of the cell cycle, particularly during the G1 phase. It interacts with several proteins, including CDKs (cyclin-dependent kinases), to regulate the activity of various transcription factors and other signaling pathways that control cell growth and division.

Cyclin G2, on the other hand, has been implicated in the regulation of DNA damage response and apoptosis (programmed cell death). It interacts with CDKs and other proteins to modulate the activity of various signaling pathways involved in these processes.

Overall, Cyclin G plays important roles in regulating cell cycle progression, DNA damage response, and apoptosis, and its dysregulation has been linked to several human diseases, including cancer.

... information from MedlinePlus retinoblastoma at NIH/UW GeneTests RB1 Mutation Database Retinoblastoma at Curlie ... Drawing of a large retinoblastoma Aspect of trilateral retinoblastoma on MRI An ocular ultrasound of a large retinoblastoma ... Inherited forms of retinoblastomas are more likely to be bilateral. In addition, inherited uni- or bilateral retinoblastomas ... Survivors of hereditary retinoblastoma have a higher risk of developing other cancers later in life. Retinoblastoma presents ...
GeneReviews/NIH/NCBI/UW entry on Retinoblastoma Retinoblastoma Genetics Drosophila Retinoblastoma-family protein - The ... The retinoblastoma protein is involved in the growth and development of mammalian hair cells of the cochlea, and appears to be ... The retinoblastoma protein (protein name abbreviated Rb; gene name abbreviated Rb, RB or RB1) is a tumor suppressor protein ... Two forms of retinoblastoma were noticed: a bilateral, familial form and a unilateral, sporadic form. Sufferers of the former ...
Kivelä T (June 1999). "Trilateral retinoblastoma: a meta-analysis of hereditary retinoblastoma associated with primary ectopic ... or bilateral retinoblastoma. In most cases trilateral retinoblastoma presents itself as pineoblastoma (pineal TRb). In about a ... In most cases pineal TRb is diagnosed before the age of 5, but after the diagnosis of retinoblastoma. Non-pineal TRb, however, ... is often diagnosed simultaneous with retinoblastoma. Prognosis of patients with trilateral retinoblastoma is dismal, only a few ...
... is a protein that in humans is encoded by the RBL2 gene. Retinoblastoma-like protein 2 has been ... Mayol X, Graña X, Baldi A, Sang N, Hu Q, Giordano A (Sep 1993). "Cloning of a new member of the retinoblastoma gene family ( ... Baldi A, Boccia V, Claudio PP, De Luca A, Giordano A (May 1996). "Genomic structure of the human retinoblastoma-related Rb2/ ... Woitach JT, Zhang M, Niu CH, Thorgeirsson SS (Aug 1998). "A retinoblastoma-binding protein that affects cell-cycle control and ...
Retinoblastoma-like 1 (p107), also known as RBL1, is a protein that in humans is encoded by the RBL1 gene. The protein encoded ... Retinoblastoma-like protein 1 has been shown to interact with: BEGAIN, BRCA1, BRF1, Cyclin A2, Cyclin-dependent kinase 2, E2F1 ... "Entrez Gene: RBL1 retinoblastoma-like 1 (p107)". Ewen ME, Xing YG, Lawrence JB, Livingston DM (Sep 1991). "Molecular cloning, ... Xiao ZX, Ginsberg D, Ewen M, Livingston DM (May 1996). "Regulation of the retinoblastoma protein-related protein p107 by G1 ...
Retinoblastoma is the most common intraocular malignancy present in children younger than 5 years old. The eye cancer can be ... "Retinoblastoma". National Eye Institute. U.S. Department of Health and Human Services. 2022. Retrieved 2023-07-30. Kapoor VS, ... Wong ES, Choy RW, Zhang Y, Chu WK, Chen LJ, Pang CP, Yam JC (March 2022). "Global retinoblastoma survival and globe ...
Retinoblastoma is a rare form of eye neoplasm (found in the retina) that is mostly found in children, being the most common ... Hereditary retinoblastoma is related to mutations in the RB1 gene, which not only increase the probability of developing ... In the case of retinoblastoma, patients carry a visibly abnormal karyotype, with a loss of function mutation on a specific band ... Thus, in the case of common blastomas, such as retinoblastomas, a practitioner may go directly into treatment. However, in the ...
Retinoblastoma protein Coats' disease Trilateral retinoblastoma Pinealoblastoma India portal Medicine portal Long link - please ... "Santosh National Retinoblastoma Foundation Director At Retinoblastoma Awareness". YouTube video. HyBiz TV. 8 May 2014. "Dr ... Ocular oncology, especially retinoblastoma, has been the principal research area of Honavar and he is known to have contributed ... Working on retinoblastoma, he developed various therapeutic and management protocols which included high-dose and periocular ...
For example, proton therapy is an option for retinoblastoma and intraocular melanoma. The advantage of a proton beam is that it ... "Retinoblastoma Treatment". www.cancers.gov. 27 Aug 2020. "Treatment Options for Intraocular (Uveal) Melanoma". www.cancers.gove ...
Retinoblastoma protein (pRb). pRb was the first tumor-suppressor protein discovered in human retinoblastoma; however, recent ... Knudson observed that retinoblastoma often developed early in life for younger patients in both eyes, while in some rarer cases ... Proposed by A.G. Knudson for cases of retinoblastoma. He observed that 40% of U.S cases were caused by a mutation in the germ- ... Non-hereditary retinoblastoma involves two mutations, one on each allele. Knudson also noted that hereditary cases often ...
Henley SA, Dick FA (March 2012). "The retinoblastoma family of proteins and their regulatory functions in the mammalian cell ... May 2019). "Cyclin D-Cdk4,6 Drives Cell-Cycle Progression via the Retinoblastoma Protein's C-Terminal Helix". Molecular Cell. ... Cyclin D-CDK4/6 complexes in turn mono-phosphorylates the retinoblastoma susceptibility protein (Rb) to pRb. The un- ... Morris EJ, Dyson NJ (1 January 2001). Retinoblastoma protein partners. Advances in Cancer Research. Vol. 82. Academic Press. pp ...
Rod cell-specific antigens in retinoblastoma. Arch Ophthalmol 1989;107:1061-63 Kivela T. Glycoconjugates in retinoblastoma: a ... The Flexner-Wintersteiner rosettes in retinoblastoma. Arch Pathol 1969;88:664-71 Zimmerman LE. Retinoblastoma and retinocytoma ... A Flexner-Wintersteiner rosette is a spoke-and-wheel shaped cell formation seen in retinoblastoma and certain other ophthalmic ... Flexner-Wintersteiner rosettes (spoke-and-wheel shaped cell formation seen mainly in retinoblastoma) have been described as a ...
"Retinoblastoma (eye cancer in children)". 17 February 2014. Retrieved 13 June 2014. (Articles with short description, Short ... which may be caused by the cancer retinoblastoma. The child's eyes should be examined by a general physician. Wikimedia Commons ...
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Retinoblastoma can occur in one or both eyes. This tumor occurs in babies and young children. It is called RB for short. Check ... Retinoblastoma - Strabismus (crossed eyes), a whitish or yellowish glow through the pupil, decreasing/loss of vision, sometimes ... Tumors in the eye and orbit can be benign like dermoid cysts, or malignant like rhabdomyosarcoma and retinoblastoma. The most ... The most common malignant intraocular tumor in children is retinoblastoma, affecting approximately 325 children per year in ...
One of his publications was on retinoblastoma and his area of specialization was Ophthalmology. He was inducted as a Foundation ... Kodilinye, Herbert C. (1967-03-01). "Retinoblastoma in Nigeria: Problems of Treatment". American Journal of Ophthalmology. 63 ( ...
... including its role in visual disease such as retinitis pigmentosa and retinoblastoma. In 1985, Hargrave chaired and secured ... "Rod Cell-Specific Antigens in Retinoblastoma". Archives of Ophthalmology. 107 (7): 1061-3. doi:10.1001/archopht. ...
"Entrez Gene: RBBP8 retinoblastoma binding protein 8". Li S, Ting NS, Zheng L, Chen PL, Ziv Y, Shiloh Y, Lee EY, Lee WH (July ... Retinoblastoma-binding protein 8 is a protein that in humans is encoded by the RBBP8 gene. The protein encoded by this gene is ... It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This ... Fusco C, Reymond A, Zervos AS (October 1998). "Molecular cloning and characterization of a novel retinoblastoma-binding protein ...
... is an American epidemiologist specialized in retinoblastoma. Kleinerman worked at the National Cancer ... Her dissertation was titled Second Cancers Following Treatment for Retinoblastoma. Her doctoral advisors were John Lawrenson ... Kleinerman, Ruth (2016). Second Cancers Following Treatment for Retinoblastoma (doctoral). OCLC 1064951389. "After 40 Years, ... Kleinerman researched second cancers following treatment for retinoblastoma. Kleinerman collaborated with Memorial Sloan ...
"Entrez Gene: RBBP9 retinoblastoma binding protein 9". Chen JZ, Yang QS, Wang S, Meng XF, Ying K, Xie Y, Ma YM (Aug 2002). " ... The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell ... Woitach JT, Zhang M, Niu CH, Thorgeirsson SS (Aug 1998). "A retinoblastoma-binding protein that affects cell-cycle control and ... RBBP9 has been shown to interact with Retinoblastoma protein. GRCh38: Ensembl release 89: ENSG00000089050 - Ensembl, May 2017 ...
Retinoblastoma is a cancer of the retina. Retinal diseases in dogs include retinal dysplasia, progressive retinal atrophy, and ...
Huang S, Lee WH, Lee EY (1991). "A cellular protein that competes with SV40 T antigen for binding to the retinoblastoma gene ... "Entrez Gene: RBBP7 retinoblastoma binding protein 7". "Peripheral blood lymphocytes data for Rbbp7". Wellcome Trust Sanger ... Qian YW, Lee EY (Dec 1995). "Dual retinoblastoma-binding proteins with properties related to a negative regulator of ras in ... RBBP7 has been shown to interact with: BRCA1, GATAD2B, HDAC1, MTA2, Retinoblastoma protein, SAP30, and SIN3A. GRCh38: Ensembl ...
Retinoblastoma-binding protein 5 is a protein that in humans is encoded by the RBBP5 gene. The protein encoded by this gene is ... "Entrez Gene: RBBP5 retinoblastoma binding protein 5". Goo YH, Sohn YC, Kim DH, Kim SW, Kang MJ, Jung DJ, Kwak E, Barlev NA, ... It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. The ... "Molecular cloning of a human protein that binds to the retinoblastoma protein and chromosomal mapping". Genomics. 27 (3): 511-9 ...
The Dyson Lab studies the retinoblastoma protein. Working as a post-doctoral fellow in the laboratory of Dr. Ed Harlow, Dyson ... "The human papilloma virus-16 E7 oncoprotein is able to bind to the retinoblastoma gene product". Science. 243 (4893): 934-7. ... demonstrated that the retinoblastoma protein can form complexes in vitro with the E7 oncoprotein of Human papilloma virus type- ...
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In non-inherited retinoblastoma, instead two mutations, or "hits", had to take place before a tumor could develop, explaining ... In the children with inherited retinoblastoma, the first mutation in what later came to be identified as the RB1 gene, was ... Knudson performed a statistical analysis on cases of retinoblastoma, a tumor of the retina that occurs both as an inherited ... He noted that inherited retinoblastoma occurs at a younger age than the sporadic disease. In addition, the children with ...
Retinoblastoma presents another example of RELN overexpression. This gene has also been seen recurrently mutated in cases of ... "Human embryonic and neuronal stem cell markers in retinoblastoma". Molecular Vision. 13: 823-32. PMC 2768758. PMID 17615543. ...
"Entrez Gene: RBBP4 retinoblastoma-binding protein 4". Pavlopoulos E, Jones S, Kosmidis S, Close M, Kim C, Kovalerchik O, Small ... Qian YW, Wang YC, Hollingsworth RE Jr, Jones D, Ling N, Lee EY (September 1993). "A retinoblastoma-binding protein related to a ... "RBBP4 retinoblastoma binding protein 4 [Homo sapiens (human)]". Home - Gene - NCBI. Bethesda, MD: National Center for ... Qian YW, Lee EY (1995). "Dual retinoblastoma-binding proteins with properties related to a negative regulator of ras in yeast ...
Some people inherit one mutated version and one normal version of the retinoblastoma gene, which produces the retinoblastoma ... Knudson subsequently showed that the model was not only applicable to retinoblastoma but also to Wilms' tumors of the kidney. ... Knudson's insight was to compare the incidence of retinoblastomas, including the number of tumors, the ages of occurrence, and ... Knudson is best known for his "two-hit hypothesis," explaining the incidence of hereditary cancers, such as retinoblastoma. ...
He postulated that retinoblastoma developed as a consequence of two mutations; one of which could be inherited or somatic ... The retinoblastoma gene was the first tumor suppressor gene to be cloned in 1986. Cairns hypothesized a different, but ... Knudson AG (April 1971). "Mutation and cancer: statistical study of retinoblastoma". Proceedings of the National Academy of ... 1983). "Expression of recessive alleles by chromosomal mechanisms in retinoblastoma". Nature. 305 (5937): 779-784. Bibcode: ...
Retinoblastoma information from MedlinePlus retinoblastoma at NIH/UW GeneTests RB1 Mutation Database Retinoblastoma at Curlie ... Drawing of a large retinoblastoma Aspect of trilateral retinoblastoma on MRI An ocular ultrasound of a large retinoblastoma ... Inherited forms of retinoblastomas are more likely to be bilateral. In addition, inherited uni- or bilateral retinoblastomas ... Survivors of hereditary retinoblastoma have a higher risk of developing other cancers later in life. Retinoblastoma presents ...
Retinoblastoma is a rare eye tumor that usually occurs in children. It is a malignant (cancerous) tumor of the part of the eye ... Retinoblastoma is a rare eye tumor that usually occurs in children. It is a malignant (cancerous) tumor of the part of the eye ... Retinoblastoma is a rare eye tumor that usually occurs in children. It is a malignant (cancerous) tumor of the part of the eye ... Retinoblastoma is caused by a mutation in a gene that controls how cells divide. As a result, cells grow out of control and ...
The most widely held concept of histogenesis of retinoblastoma holds that it generally arises from a multipotential precursor ... Genetic counseling for retinoblastoma. In 1979, Vogel published his review on the genetics of retinoblastoma in the Journal of ... The prognosis in retinoblastoma is good where prompt medical care is available. The overall survival rate of retinoblastoma in ... Chemoreduction for retinoblastoma may prevent trilateral retinoblastoma. J Clin Oncol. 2000 Jan. 18(1):236-7. [QxMD MEDLINE ...
... Arch Ophthalmol. 2005 Nov;123(11):1525-30. doi: 10.1001/ ... Design: Interventional case series evaluating 54 eyes of 40 children with retinoblastoma successfully treated with ...
... such as those with retinoblastoma in both eyes and those with retinoblastoma in 1 eye who have a family history of the disease ... Retinoblastoma - Childhood: Follow-Up Care. Approved by the Cancer.Net Editorial Board, 09/2022 ... Cancer rehabilitation after retinoblastoma treatment could mean any of a wide range of services, such as physical therapy, ... Once a child has been free of retinoblastoma for 2 to 4 years after treatment and is considered cured, the emphasis during ...
Very well treated by Dr. Finger. He explained everything I needed to know about my issue with detail and attention, putting me at ease and giving me confidence to handle this problem for the rest of my life ...
Maura Di Nicola and Basil Williams provide an update on how retinoblastoma treatments have evolved, including discussion of ... Maura Di Nicola and Basil Williams provide an update on how retinoblastoma treatments have evolved, including discussion of ... the listener should be able to describe evolving standards of care for the diagnosis and management of retinoblastoma. ...
Survivors of hereditary retinoblastoma have an increased long-term risk of a limited number of subsequent epithelial cancers ... Survivors of hereditary retinoblastoma have an increased long-term risk of subsequent epithelial cancers of certain sites and ... Using data from the Long-Term Follow-up Study of Retinoblastoma Survivors, Sara Schonfeld, Ph.D., staff scientist in the ... Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors. Br J Cancer. January ...
Approximately 350 children are diagnosed with retinoblastoma every year in the United States. There is no higher incidence in ... Retinoblastoma is usually diagnosed in very young children, and may be present at birth. In fact, over 95 percent of children ... bilateral retinoblastoma). Unilateral retinoblastoma tends to be non-hereditary, whereas bilateral retinoblastoma is usually ... Chapter 5: Retinoblastoma. *The eye*Who gets retinoblastoma?*Signs and symptoms*Diagnosis and staging*Prognosis*Treatment* ...
... of the human retinoblastoma protein (pp110-114 Rb). In western blot analysis, Rb migrates as multiple closely-spaced bands ...
Retinoblastoma arises in the retina-the multi-layered, membrane lining the back of the eye that responds to light by generating ... Retinoblastoma arises in the retina-the multi-layered, membrane lining the back of the eye that responds to light by generating ... Retinoblastoma Breakthrough Also Shows Mature Nerves Can Multiply Like Young Ones. By News Staff , October 18th 2007 06:32 PM ... Jude Childrens Research Hospital have identified the cell that gives rise to the eye cancer retinoblastoma, disproving a long- ...
Research analysing DNA to provide accurate diagnoses and help predict the outcome of retinoblastoma (Rb). ... Retinoblastoma is a childhood eye cancer, which usually occurs before the age of three. It is almost always caused by defects ... In some cases, retinoblastoma can be inherited and therefore a genetic diagnosis is needed to be able to determine if family ... The team have already set up a collaboration with the Barts Health NHS Trust, which are the second retinoblastoma service in ...
RetinoblastomaNucleotide sequenceTissue slicesTumorsEtoposide 2. Single-cell characterization of macrophages in glioblastoma ... RetinoblastomaCancer--ImmunotherapyMacrophages 3. Computational Inferences of Mutations Driving Mesenchymal Differentiation in ... BiologyCerebral cortexTumor suppressor proteinsRetinoblastomaCarcinogenesis 5. Rb induces a proliferative arrest and curtails ... Mutation (Biology)Mesenchymal stem cells--DifferentiationSystems biologyRetinoblastomaBioinformaticsGeneticsBiology 4. Complex ...
Proliferative control in cancer cells is frequently disrupted by mutations in the retinoblastoma protein (RB) pathway. ... Aren E. Marshall, Michael V. Roes, Daniel T. Passos, Megan C. DeWeerd, et al.. "RB1 deletion in retinoblastoma protein pathway- ... RB1 deletion in retinoblastoma protein pathway-disrupted cells results in DNA damage and cancer progression ... Proliferative control in cancer cells is frequently disrupted by mutations in the retinoblastoma protein (RB) pathway. ...
Background: The purpose of this study was to determine the survival of retinoblastoma in the USA over a 30-year period from ... Conclusions: Over the last 30 years, there has been a gradual improvement in 5-year survival of children with retinoblastoma in ... All retinoblastoma patient records were reviewed for treatments given and occurrence of second malignant neoplasms. ... Results: There were a total of 990 distinct patients with retinoblastoma. Almost all cases (99.1%) were reported by the ...
Retinoblastoma is the most common primary intraocular tumor in children. The first sign that is often reported by parents is ...
Online download statistics by month: July 2004 to August ...
keywords = "Retinoblastoma, pineoblastoma, epidemiology, MRI, pediatric oncology, trilateral retinoblastoma, eye cancer",. ... Epidemiology and imaging of retinoblastoma. / de Jong, M.C. 2017. 280 p.. Research output: PhD Thesis › PhD-Thesis - Research ... de Jong, M. C. (2017). Epidemiology and imaging of retinoblastoma. [PhD-Thesis - Research and graduation internal, Vrije ... de Jong, MC 2017, Epidemiology and imaging of retinoblastoma, PhD, Vrije Universiteit Amsterdam. ...
Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the ... Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the ... A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene ... Here, using multi-omics data, we demonstrate the existence of two retinoblastoma subtypes. Subtype 1, of earlier onset, ...
Expression cloning of a cDNA encoding a retinoblastoma-binding protein with E2F-like properties. Kaelin WG, Krek W, Sellers WR ...
Retinoblastoma (RB) is the most common eye cancer, affecting ~8000 children every year worldwide. This cancer can form in one ... Retinoblastoma (RB) is the most common eye cancer, affecting ~8000 children every year worldwide. This cancer can form in one ... and low-risk retinoblastoma in 50 patients with known clinical outcomes (i.e. 25 patients that were saved with therapy, and 25 ...
... age and parental age gap independently increase the risk of developing de novo germline mutations causing retinoblastoma, a ... Update on retinoblastoma. Retina. 2004;24:828-48.. * Broaddus E, Topham A, Singh AD. Incidence of retinoblastoma in the USA: ... High parental age is associated with sporadic hereditary retinoblastoma: the Dutch retinoblastoma register 1862-1994. Hum Genet ... for retinoblastoma development in offspring, based on a retrospective study in India of 247 patients with retinoblastoma ...
Papillar thyroid cancer: a rare case of a second primary tumor in retinoblastoma].. ... Papillar thyroid cancer: a rare case of a second primary tumor in retinoblastoma]. ... Papillar thyroid cancer: a rare case of a second primary tumor in retinoblastoma]. ...
Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Intra-arterial chemotherapy for retinoblastoma ... Quimioterapia intraarterial para el tratamiento del retinoblastoma en Chile: experiencia y resultados, período 2013-2020 ... Intra-arterial chemotherapy for retinoblastoma treatment in Chile: Experience and results 2013-2020 ...
Tumor heterogeneity in retinoblastoma has been reported in several studies [9,23-25]. The microdissected samples used in the ... Proximal DCT promoter is active in retinoblastoma cells To determine whether the proximal promoter of the DCT gene could drive ... Retinoblastoma (RB) is the most frequent primary cancer of the eye in childhood and predominantly affects young children under ... Purpose: Retinoblastoma (RB) is a malignant childhood intraocular tumor. Current treatment options for RB have undesirable side ...
Using retinoblastoma as a case example, we propose applying stage-based intervention models in critical stages of care, such as ... Retinoblastoma is a compelling disease model to illustrate the potential insights afforded in theory-informed approaches to ... While a health delivery-based approach has been a historic focus of retinoblastoma treatments globally and is essential to ... represent stark causes of high retinoblastoma mortality rates in low- and middle- income settings, particularly regions in ...
... Retinoblastoma-associated protein. RB transcriptional corepressor 1. p105-Rb. pRb, Rb ...
These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an ... Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, ... The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were reexamined ... The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions. ...
Other names p107, Retinoblastoma-. Like Protein; Retinoblastoma Like Protein 1; p107 Tumor Suppressor Protein; Retinoblastoma ... Retinoblastoma-Like Protein p107. Rbl1 protein, mouse 0 *Retinoblastoma-Like Protein p107. To share this definition, click " ...
  • In children with the heritable genetic form of retinoblastoma, a mutation occurs in the RB1 gene on chromosome 13. (wikipedia.org)
  • Based on the type of treatment your child received and whether the child has the genetic form of retinoblastoma, the doctor will determine what evaluations are needed to check for long-term effects. (cancer.net)
  • Children who have the hereditary form of retinoblastoma and have disease in both eyes have a very small risk of also developing a tumor in the pineal gland of the brain, called pineoblastoma. (alexslemonade.org)
  • The hereditary form of retinoblastoma occurs in around 40 percent of children with the disease. (alexslemonade.org)
  • In 85 percent of children with the hereditary form of retinoblastoma, no one else in the family has retinoblastoma (called the non-familial or sporadic form). (alexslemonade.org)
  • The remaining 15 percent of children with the hereditary form of retinoblastoma have a family member with the disease (usually a parent). (alexslemonade.org)
  • Additionally, children with the inherited form of retinoblastoma have an increased risk of developing other types of cancers in any part of the body in the years after treatment. (humanitas.net)
  • In children with the genetic form of retinoblastoma, the damaged gene is inherited from one of the parents. (medicalwholesome.com)
  • At diagnosis, 60 percent of children have a single tumor in one eye (unilateral retinoblastoma) and 40 percent have multiple tumors in one or both eyes (bilateral retinoblastoma). (alexslemonade.org)
  • Unilateral retinoblastoma tends to be non-hereditary, whereas bilateral retinoblastoma is usually hereditary. (alexslemonade.org)
  • John Allen was 15 months old when he was diagnosed with unilateral retinoblastoma. (alexslemonade.org)
  • The chromosomes of a patient with unilateral retinoblastoma, previously supposed to have a normal karyotype, were reexamined after the discovery that his red blood cells contained reduced activities of esterase D. A small sub-band deletion was found in chromosome region 13q14. (bmj.com)
  • Finally, Jack's eye had cleared enough for Oliver's official diagnosis - unilateral retinoblastoma, a rare form of eye cancer. (cuanschutz.edu)
  • It is called Unilateral Retinoblastoma. (credihealth.com)
  • Retinoblastoma is unilateral in 70-75% of cases. (medrenaline.com)
  • About 60% of retinoblastoma cases occur sporadically by both hits (mutation) occuring in the same retinal cell in the embryo after fertilization.These mutations generally result in unifocal and unilateral tumors which cannot be passed to the offspring . (medrenaline.com)
  • An 18-month-old girl with unilateral group D retinoblastoma was evaluated with light -adapted 3 full-field electroretinogram protocol and optical coherence tomography (I-Stand optical coherence tomography , Optovue) after treatment with intravitreal melphalan for active vitreous seeds . (bvsalud.org)
  • METHODS: Data were collected by a large multicenter study of sporadic retinoblastoma in which parents of 99 unilateral and 56 bilateral age-matched case-control pairs were interviewed by telephone. (cdc.gov)
  • Retinoblastoma (Rb) is a rare form of cancer that rapidly develops from the immature cells of a retina, the light-detecting tissue of the eye. (wikipedia.org)
  • The most common and obvious sign of retinoblastoma is an abnormal appearance of the retina as viewed through the pupil, the medical term for which is leukocoria, also known as amaurotic cat's eye reflex. (wikipedia.org)
  • [ 10 ] The major importance of this discovery is the idea that retinoblastoma can arise from fully matured nerves in the retina called horizontal interneurons, disproving the long-held scientific principle that fully formed, mature nerves cannot multiply like young immature cells. (medscape.com)
  • Retinoblastoma arises in the retina-the multi-layered, membrane lining the back of the eye that responds to light by generating nerve impulses that are carried into the brain by the optic nerve. (science20.com)
  • The immediate importance of the St. Jude finding is that it unexpectedly showed that retinoblastoma can arise from fully matured nerves in the retina called horizontal interneurons. (science20.com)
  • Nine hundred and ninety-two cases of retinoblastoma (International Classification of Oncology (ICDO-3) codes C69.2 (retina) and C69.9 (eye, NOS)) were derived from the Surveillance, Epidemiology and End Results (SEER) program database in the USA from 1975 to 2004. (bmj.com)
  • Retinoblastoma is the most frequent intraocular malignancy in children, originating from a maturing cone precursor in the developing retina. (nih.gov)
  • Retinoblastoma is a cancer of the retina that happens mostly to young children. (msdmanuals.com)
  • Oliver, who directs the eye cancer program and is the chief of retina services at the Sue Anschutz-Rodgers Eye Center , has treated many children with retinoblastoma, but none quite like Jack. (cuanschutz.edu)
  • Retinoblastoma is an eye cancer that begins in the retina - the sensitive lining on the inside of your eye. (medihelp.life)
  • Retinoblastoma occurs when the nerve cells in the retina develop genetic mutations that cause the cells to continue growing and multiplying when healthy cells would die. (humanitas.net)
  • For example, pediatric retinoblastoma may cause abnormalities in the child's retina, such as detachment or thickening. (pediatricretinoblastoma.com)
  • Retinoblastoma is a cancer which grows in the retina in children. (credihealth.com)
  • Retinoblastoma is a malignant tumor neoplasm of neuroectoderm of the retina that affects mostly children. (doclandmed.com)
  • Retinoblastoma is a cancer that affects the retina and the communicative tissues of the eye. (doclandmed.com)
  • Retinoblastoma is a common malignant tumour which usually arises from the neurosensory retina in one or both of human eyes. (medrenaline.com)
  • Improvements in prognosis and treatment are saving the eyes and lives of patients with uveal melanoma and retinoblastoma, said Timothy Murray, MD, from Ocular Oncology and Retina in Miami. (medscape.com)
  • Retinoblastoma is universally known as the most intrusive intraocular cancer among children. (wikipedia.org)
  • Retinoblastoma is the most common primary ocular malignancy (eye cancer) of childhood. (medscape.com)
  • All children treated for cancer, including retinoblastoma, should have life-long, follow-up care. (cancer.net)
  • Cancer rehabilitation after retinoblastoma treatment could mean any of a wide range of services, such as physical therapy, career counseling, pain management, nutritional planning, and/or emotional counseling. (cancer.net)
  • Survivors of hereditary retinoblastoma have an increased long-term risk of subsequent epithelial cancers of certain sites and of developing multiple subsequent cancers, according to a study published on January 21, 2021, in the British Journal of Cancer . (cancer.gov)
  • While advances in therapies have greatly improved survival rates following retinoblastoma (RB), a rare eye cancer typically diagnosed in early childhood, it is known that survivors of hereditary RB have a high risk of developing subsequent cancers, particularly sarcomas of the soft tissue and bone , as well as melanoma. (cancer.gov)
  • Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors. (cancer.gov)
  • Subsequent Cancer Risk in Retinoblastoma Survivors was originally published by the National Cancer Institute. (cancer.gov)
  • Investigators at St. Jude Children's Research Hospital have identified the cell that gives rise to the eye cancer retinoblastoma, disproving a long-standing principle of nerve growth and development. (science20.com)
  • The discovery that fully differentiated horizontal interneurons can multiply to form retinoblastoma also challenges the established scientific belief that cancer cells are most aggressive when they are undifferentiated, Dyer said. (science20.com)
  • Retinoblastoma is a childhood eye cancer, which usually occurs before the age of three. (fightforsight.org.uk)
  • Proliferative control in cancer cells is frequently disrupted by mutations in the retinoblastoma protein (RB) pathway. (bepress.com)
  • RB1 deletion in retinoblastoma protein pathway-disrupted cells results in DNA damage and cancer progression" Molecular and Cellular Biology Vol. 39 Iss. (bepress.com)
  • Retinoblastoma (RB) is the most common eye cancer, affecting ~8000 children every year worldwide. (alexslemonade.org)
  • Papillar thyroid cancer: a rare case of a second primary tumor in retinoblastoma]. (insa-lyon.fr)
  • Retinoblastoma, the most common intraocular tumor globally, represents a curable cancer when diagnosed early and treated promptly. (biomedcentral.com)
  • Retinoblastoma represents the most common pediatric intraocular cancer with the greatest disease burden in populations with high birth rates. (biomedcentral.com)
  • Retinoblastoma is a rare type of eye cancer that affects children younger than five and rarely occure in adults. (humanitas.net)
  • Being a rare form of eye cancer, Retinoblastoma may occur in one or both eyes. (humanitas.net)
  • Although a genetic mutation increases a child's risk of retinoblastoma, it does not mean that cancer is inevitable. (humanitas.net)
  • Children treated for retinoblastoma have a risk of cancer returning in and around the treated eye. (humanitas.net)
  • In the case of retinoblastoma, the first mutation causes damage to the suppressor gene, the so-called anti-oncogene, which is responsible for inhibiting the process of cancer formation. (medicalwholesome.com)
  • If a doctor diagnoses a child with Retinoblastoma, he is then taken to a paediatric oncologist to diagnose the presence of cancer in any other part of the body. (credihealth.com)
  • Uveal melanoma, the most common primary eye cancer in adults, affects about 3000 Americans each year, and retinoblastoma, the most common eye cancer in children, affects about 300. (medscape.com)
  • La présente étude transversale a été menée auprès de 138 enfants atteints de cancer et traités dans l'Unité d'oncologie pédiatrique du Centre d'oncologie de l'Université de Mansoura, en Égypte. (who.int)
  • En revanche, les patients de moins de cinq ans et ceux avec un diagnostic de cancer provisoire posé initialement bénéficiaient du délai total médian le plus court. (who.int)
  • Nous suggérons de mettre en place des programmes de formation médicale continue, d'améliorer l'accès aux services de diagnostic, et de faciliter l'orientation-recours de façon à donner la priorité aux patients suspects de cancer et ainsi raccourcir le délai de diagnostic. (who.int)
  • We also welcome the early diagnosis and comprehensive treatment of the six index childhood cancers which includes retinoblastoma, a childhood cancer of eye. (who.int)
  • The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer. (lu.se)
  • There were a total of 990 distinct patients with retinoblastoma. (bmj.com)
  • Roughly 5% of all patients with retinoblastoma carry a constitutional chromosome deletion on the long arm of chromosome 13, which confers a prezygotic predisposition to tumour development. (bmj.com)
  • These findings emphasise the importance of measurements of esterase D in all patients with retinoblastoma, even those with an apparently normal karyotype. (bmj.com)
  • Almost half of children with retinoblastoma have a hereditary genetic defect associated with retinoblastoma. (wikipedia.org)
  • Genetic counseling can help families understand the risk for retinoblastoma. (medlineplus.gov)
  • These defects can be identified through genetic sequencing of DNA taken from the blood and/or tumour of retinoblastoma patients. (fightforsight.org.uk)
  • Therefore, tumour DNA is not available for many patients and the genetic basis of retinoblastoma cannot be confirmed. (fightforsight.org.uk)
  • In some cases, retinoblastoma can be inherited and therefore a genetic diagnosis is needed to be able to determine if family members are at risk from the disease. (fightforsight.org.uk)
  • Doctors will also do genetic testing to see if your child's retinoblastoma is the type that can be passed down in a family. (msdmanuals.com)
  • Molecular genetic testing of leukocytes for mutations in the Rb1 gene is recommended for all patients with retinoblastomas. (amboss.com)
  • Modern technology and screening has identified many genetic alterations/syndromes associated with retinoblastoma formation, while early and consistent well child visits provide effective screening. (medihelp.life)
  • genetic testing enables families to know which children have an increased risk of retinoblastoma, so eye exams can begin at an early age. (humanitas.net)
  • Retinoblastoma can sometimes be a genetic condition, and children get it from their parents or grandparents. (credihealth.com)
  • retinoblastoma concurrent with a PNET is known as trilateral retinoblastoma. (wikipedia.org)
  • A 2014 meta-analysis showed that 5-year survival of trilateral retinoblastoma increased from 6% before 1995 to 57% by 2014, attributed to early detection and improved chemotherapy. (wikipedia.org)
  • Sometimes this is referred to as trilateral retinoblastoma. (alexslemonade.org)
  • Drs. Maura Di Nicola and Basil Williams provide an update on how retinoblastoma treatments have evolved, including discussion of intra-arterial and intravitreal chemotherapy and liquid biopsy using aqueous humor samples. (aao.org)
  • Early diagnosed retinoblastoma can be completely cured with chemotherapy, radiation, xenon or laser photocoagulation. (medicalwholesome.com)
  • In the treatment of retinoblastoma, like other cancers, chemotherapy and radiotherapy are also used. (medicalwholesome.com)
  • Advancement in medical science has made it possible for numerous treatments for Retinoblastoma, which include - Chemotherapy, External beam radiation, Intra-arterial Chemotherapy, Radioactive Plaques, Transpupillary Thermotherapy and Brachytheraphy. (credihealth.com)
  • Counseling will also be provided for children who have an increased risk of additional tumors later in life, such as those with retinoblastoma in both eyes and those with retinoblastoma in 1 eye who have a family history of the disease. (cancer.net)
  • Eye ultrasound can highlight calcium deposits in tumors, which are a classic sign of pediatric retinoblastoma. (pediatricretinoblastoma.com)
  • Upon completion of this episode, the listener should be able to describe evolving standards of care for the diagnosis and management of retinoblastoma. (aao.org)
  • Delay to diagnosis, lag time prior to treatment initiation, and abandonment of treatment including upfront treatment refusal, represent stark causes of high retinoblastoma mortality rates in low- and middle- income settings, particularly regions in Africa. (biomedcentral.com)
  • Given that barriers to appropriate and timely diagnosis and treatment represent main contributors to mortality in children with retinoblastoma in resource-limited settings such as certain areas in Africa, an important priority is to overcome barriers to cure that may be predominantly socially influenced, alongside health delivery-based improvements. (biomedcentral.com)
  • Using retinoblastoma as a case example, we propose applying stage-based intervention models in critical stages of care, such as the Precaution Adoption Process Model to decrease delay to diagnosis and a Transtheoretical Model to increase treatment completion rates in resource-limited settings. (biomedcentral.com)
  • After the shock of a pediatric retinoblastoma diagnosis wears off, many parents wonder, "Should we seek legal help? (dwklaw.com)
  • Consulting with a medical malpractice attorney can help families make peace with the situation by ensuring they have done all they can to further protect their child and other children from issues stemming from a pediatric retinoblastoma diagnosis. (dwklaw.com)
  • A delayed diagnosis happens when the medical professional does not observe and identify the patient's signs and symptoms of retinoblastoma when they first appear. (dwklaw.com)
  • This is when a child receives an incorrect diagnosis, whether of retinoblastoma or not. (dwklaw.com)
  • Families who believe their child has suffered due to a misdiagnosis, missed or delayed diagnosis, or a failure to diagnose should contact an Orlando attorney who is experienced with pediatric retinoblastoma as soon as possible to determine if they have grounds to file a lawsuit. (dwklaw.com)
  • A diagnosis of pediatric retinoblastoma does not guarantee that you'll have a medical malpractice case, but it's worth exploring and having your questions answered. (dwklaw.com)
  • What started out as a normal day at the pool for the 11-year-old boy last summer turned into the beginning of a mysterious medical journey that resulted in a retinoblastoma diagnosis. (cuanschutz.edu)
  • The aim of this systematic review is to assess the latest age at diagnosis for detection of familial retinoblastoma in order to evaluate at what age screening of at-risk children could be discontinued. (amsterdamumc.org)
  • We performed a literature search (PubMed, Embase, CINAHL and the Cochrane Library) up until February of 2021 and systematically included studies where patients had a family history of retinoblastoma, a known age at diagnosis, and who were ophthalmologically screened for retinoblastoma from birth. (amsterdamumc.org)
  • Based on 48 months of age being the latest age of diagnosis, ophthalmological screening for familial retinoblastoma could safely be discontinued at age four years. (amsterdamumc.org)
  • The diagnosis of retinoblastoma is confirmed by the following examinations: basic ophthalmology, computed tomography, ultrasound of the eyeball, magnetic resonance imaging, histopathological examination and intraocular biopsy. (medicalwholesome.com)
  • For these reasons, eye ultrasound is one of the most common diagnostic imaging tests for the diagnosis of pediatric retinoblastoma. (pediatricretinoblastoma.com)
  • Ultrasonography in diagnosis of retinoblastoma. (pediatricretinoblastoma.com)
  • The following text reports a case study of care about diagnosis, treatments and the evolution, mainly, of the development of the vision of a child with retinoblastoma, attended in a Multifunctional Resource Room - Visual Disability located in a city in the interior of the State of Paraná. (bvsalud.org)
  • In other cases, it is caused by a congenital mutation in the chromosome 13 gene 13q14 (retinoblastoma protein). (wikipedia.org)
  • Retinoblastoma is caused by a mutation in a gene that controls how cells divide. (medlineplus.gov)
  • The most widely held concept of histogenesis of retinoblastoma holds that it generally arises from a multipotential precursor cell (mutation in the long arm of chromosome 13 band 13q14) that could develop into almost any type of inner or outer retinal cell. (medscape.com)
  • A change, called a mutation, in a gene called RB1 is involved in the development of retinoblastoma. (alexslemonade.org)
  • After conception, if a mutation occurs in the other copy of the RBI gene in one or more retinoblasts in the eye, retinoblastoma develops. (alexslemonade.org)
  • According to Knudson's two hit hypothesis Retinoblastoma is heritable it explains that, first hit (mutation) occurs in one of the two alleles of retinoblastoma gene on the germ cells (Gametes) before fertilization. (medrenaline.com)
  • To investigate the use of small quantities of DNA from ocular fluid to reliably diagnose retinoblastoma. (fightforsight.org.uk)
  • Retinoblastoma is a malignant ocular tumor most frequently in childhood and can cause blindness and death. (bvsalud.org)
  • In roughly 60 percent of children with retinoblastoma, there is a change in both copies of the RB1 gene, but only in the cells of the tumor in the eye. (alexslemonade.org)
  • They are caused by sporadic or inherited mutations in the retinoblastoma gene (Rb). (amboss.com)
  • We have demonstrated that the retinoblastoma gene product (Rb) can positively regulate transcription from the fourth promoter of the insulinlike growth factor II gene. (umn.edu)
  • Two copies of a motif (the retinoblastoma control element) similar to that found in the human c-fos, transforming growth factor β1, and c-myc promoters are responsible for conferring Rb regulation to the fourth promoter of the insulinlike growth factor II gene. (umn.edu)
  • Hereditary retinoblastoma is passed from parents to children in an autosomal dominant pattern, which means only one parent needs a single copy of the mutated gene to pass the increased risk of retinoblastoma on to the children. (humanitas.net)
  • Deletion or inactivation of both the normal alleles of this protective gene by two mutations ( Knudsons's two hit hypothesis ) results in occurence of retinoblastoma. (medrenaline.com)
  • Addgene: Expression cloning of a cDNA encoding a retinoblastoma-binding protein with E2F-like properties. (addgene.org)
  • Reacts with human Retinoblastoma protein (pSer612). (covalab.com)
  • Retinoblastoma is a rare eye tumor that usually occurs in children. (medlineplus.gov)
  • It is especially important when more than one family member has had the disease, or if retinoblastoma occurs in both eyes. (medlineplus.gov)
  • A pediatric retinoblastoma misdiagnosis occurs when a child is examined and something is found, but it is not diagnosed as retinoblastoma. (dwklaw.com)
  • Retinoblastoma occurs mostly in young children - younger than Jack - and accounts for about 2% of all childhood cancers. (cuanschutz.edu)
  • Retinoblastoma occurs more prevalent in white people compared to colored people. (medrenaline.com)
  • de Jong, M.C.. / Epidemiology and imaging of retinoblastoma . (vu.nl)
  • Adult cases of retinoblastoma are extremely rare. (medicalwholesome.com)
  • 60% cases of Retinoblastoma, are, however, non-hereditary, meaning none of the affected person's family has any history of the disease. (credihealth.com)
  • Brothers and sisters at risk for retinoblastoma should have eye exams every 4 months from birth to age 4. (msdmanuals.com)
  • The management of retinoblastoma has gone through a similar progression. (medscape.com)
  • The development of retinoblastoma can be explained by the two-hit model. (wikipedia.org)
  • While sporadic retinoblastomas tend to occur unilaterally, hereditary retinoblastomas usually occur bilaterally and may be associated with other malignancies (e.g., osteosarcoma ). (amboss.com)
  • Residential pesticide exposures in pregnancy and the risk of sporadic retinoblastoma: a report from the Children's Oncology Group. (cdc.gov)
  • PURPOSE: To examine whether parental pesticide exposure contributes to the development of sporadic retinoblastoma. (cdc.gov)
  • The characteristic clinical features of retinoblastomas are leukocoria (white fundal reflex instead of the usual red) and strabismus . (amboss.com)
  • Inherited forms of retinoblastomas are more likely to be bilateral. (wikipedia.org)
  • Children with bilateral retinoblastoma are typically diagnosed at a younger age than those with only one tumor and one eye involved. (alexslemonade.org)
  • Inherited retinoblastomas tend to be bilateral. (amboss.com)
  • Contact your provider if signs or symptoms of retinoblastoma are present, especially if your child's eyes look abnormal or appear abnormal in photographs. (medlineplus.gov)
  • What are the symptoms of retinoblastoma? (msdmanuals.com)
  • Hereditary retinoblastoma also tends to occur in both eyes, as opposed to just one eye. (humanitas.net)
  • Children suffering from hereditary retinoblastoma in one eye have greater chances of developing it in the other, which is why regular checkups are a must. (credihealth.com)
  • However, parents must ensure frequent checkups with the doctor, especially for those children with Hereditary Retinoblastoma because such children are at risk of developing secondary cancers. (credihealth.com)
  • Retinoblastoma is a most common intraocular tumor in children, occurring 1 in 15,000 to 20,000 live births and Retinoblastoma accounts for 2% of childhood cancers as neural cells fail to proliferate. (medrenaline.com)
  • Across the globe, there are 9,000 new diagnoses of retinoblastoma estimated annually, or approximately one case per 15000 live births, with the majority in resource-limited settings [ 1 ]. (biomedcentral.com)
  • In this post, we will take a look at some of the situations surrounding pediatric retinoblastoma diagnoses that have led to lawsuits. (dwklaw.com)
  • They can also be told that they are not at risk of other cancers later in life and other family members are not themselves at risk of retinoblastoma. (fightforsight.org.uk)
  • Applying a stage-based model lens to programmatic interventions in resource-limited settings has potential for visible improvement in outcomes for children with retinoblastoma and other cancers. (biomedcentral.com)
  • For this reason, children with inherited retinoblastoma may have regular exams to screen for other cancers. (humanitas.net)
  • It is the cause of binocular and multifocal retinoblastoma, as well as an increased risk of developing other cancers later in life. (medicalwholesome.com)
  • Thanks to these innovations, retinoblastoma is the most successfully treated of all pediatric cancers, Shields said. (medscape.com)
  • Retinoblastoma (RB) is a malignant childhood intraocular tumor. (molvis.org)
  • A child born to a parent who has had a heritable retinoblastoma has a 50% chance of acquiring the mutated Rb allele ! (amboss.com)
  • Microscopic features of a well-differentiated tumour include flexner-wintersteiner rosettes (highly specific of retinoblastoma) , homer-wright rosettes/pseudorosettes and fleurettes formation . (medrenaline.com)
  • Some children with retinoblastoma can develop a squint, commonly referred to as "cross-eyed" or "wall-eyed" (strabismus). (wikipedia.org)
  • These children will therefore have a high risk of developing retinoblastoma themselves. (medlineplus.gov)
  • Interventional case series evaluating 54 eyes of 40 children with retinoblastoma successfully treated with chemoreduction, consisting of a combination of intravenous carboplatin, etoposide phosphate, and vincristine sulfate plus focal therapy without external beam radiotherapy or enucleation. (nih.gov)
  • Retinoblastoma is usually diagnosed in very young children, and may be present at birth. (alexslemonade.org)
  • Approximately 350 children are diagnosed with retinoblastoma every year in the United States. (alexslemonade.org)
  • Over the last 30 years, there has been a gradual improvement in 5-year survival of children with retinoblastoma in the USA. (bmj.com)
  • This will be done as a final step to prepare for a future clinical trial based on stratification of children with high- and low-risk retinoblastoma. (alexslemonade.org)
  • Retinoblastomas are the most common primary intraocular malignancy in children. (amboss.com)
  • 40% of children develop retinoblastomas in both eyes. (amboss.com)
  • He doesn't fit the usual age profile for children who are diagnosed with retinoblastoma, and his tumor presented in a rare way. (cuanschutz.edu)
  • Retinoblastoma most commonly affects young children, but can rarely occur in adults. (medihelp.life)
  • Children are most often affected by retinoblastoma. (medicalwholesome.com)
  • If the presence of retinoblastoma is suspected in hereditary children, it is necessary to undergo an eye examination under anesthesia. (medicalwholesome.com)
  • Retinoblastoma, often called retinoblastoma in Latin, is the most common intraocular malignant neoplasm of the eye in children. (medicalwholesome.com)
  • Retinoblastoma can affect children up to the age of 5, and can even affect in the fetuses that aren't fully developed inside their mothers' wombs. (credihealth.com)
  • Most children with Retinoblastoma are born with it, but it isn't diagnosed immediately at birth. (credihealth.com)
  • The statistics for children recovering from Retinoblastoma are excellent, with over 80% of them retaining their old vision. (credihealth.com)
  • Retinoblastoma is usually seen in infants and very young children, although it may remain quiescent, passing unnoticed until the fifth or sixth year of life but sometimes it may appear in later stages. (medrenaline.com)
  • There is no sex predisposition for retinoblastoma to occur. (medrenaline.com)
  • In about 40% of the cases Retinoblastoma, 10% occur due to inheritance from the affected parent or 30% of the cases, sporadically in one of the gametes. (medrenaline.com)
  • The results at hand form an encouraging foundation for further in-vivo studies on the therapeutic potential of this promising photosensitizer for the eyeball and vision preserving as well as potentially curative therapy of retinoblastoma. (univ-lorraine.fr)
  • In almost 60% of cases, retinoblastoma develops in one eyeball, in 30% it affects both eyes, but usually it does not attack them simultaneously. (medicalwholesome.com)
  • The present retrospective and quantitative study aimed to determine the prevalence of blindness and eyeball loss by Retinoblastoma (Rb). (bvsalud.org)
  • All retinoblastoma patient records were reviewed for treatments given and occurrence of second malignant neoplasms. (bmj.com)
  • While a health delivery-based approach has been a historic focus of retinoblastoma treatments globally and is essential to quality care, this is necessary but not adequate. (biomedcentral.com)
  • The need to screen all retinoblastoma patients for esterase D activity: detection of submicroscopic chromosome deletions. (bmj.com)
  • Retinoblastoma is caused by a problem with the genes that control eye development. (msdmanuals.com)
  • Retinoblastoma arises as a malignant proliferation of the immature retinal neural cells which are small round cells with large nuclei. (medrenaline.com)
  • Retinoblastoma is a compelling disease model to illustrate the potential insights afforded in theory-informed approaches to improve outcomes that integrate public health and oncology perspectives, prioritizing both health service delivery and social efficacy for cure. (biomedcentral.com)
  • Retinoblastoma is first observed when the pupil in children's eye appears whitish in bright light, while others may notice this only in photographs. (credihealth.com)
  • Leucocoria-white pupil is the most commonest and noticeable symptom of Retinoblastoma. (medrenaline.com)
  • Once a child has been free of retinoblastoma for 2 to 4 years after treatment and is considered cured, the emphasis during periodic follow-up visits changes. (cancer.net)
  • Treatment depends on where the retinoblastoma is and whether it has spread. (msdmanuals.com)
  • Only a handful of centers in the U.S. offer the full spectrum of retinoblastoma treatment, including IAC. (cuanschutz.edu)
  • These features and requirements make the PDT an attractive therapeutic option for the treatment of retinoblastoma, especially when surgical enucleation is a curative option. (univ-lorraine.fr)
  • Treatment of retinoblastoma depends on the extent and size of the tumor. (medicalwholesome.com)
  • If you believe your child is a victim of pediatric retinoblastoma misdiagnosis or failure to diagnose pediatric retinoblastoma, please call or send an e-mail to schedule your free legal consultation. (pediatricretinoblastoma.com)
  • This is a rare subtype comprising 1.5% of all retinoblastomas. (medscape.com)
  • The purpose of this study was to determine the survival of retinoblastoma in the USA over a 30-year period from 1975 to 2004 using a systematic review of existing databases. (bmj.com)
  • In this instance, a medical professional does not diagnose retinoblastoma at all. (dwklaw.com)
  • Ultrasound of the eye, also called ultrasonography, may be used to diagnose pediatric retinoblastoma. (pediatricretinoblastoma.com)
  • The members of the retinoblastoma family of pocket proteins, pRb, p107 and p130, are negative regulators of the cell cycle with tumor suppressor activity and with roles in differentiation. (oncotarget.com)