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Molecular biology of the human retinoblastoma gene
1989The notion that genetic damage is the underlying cause of cancer comes from two apparently contradictory lines of evidence on the nature of carcinogenesis. On the one hand, many genomic changes found in malignant cells, such as point mutations, amplification, translocation, and various other rearrangements induced chemically or by retroviruses, have ...
Y K, Fung, A, T'ang, T L, Thompson
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[From gene to disease; retinoblastoma and the RB1 gene].
Nederlands tijdschrift voor geneeskunde, 2001Retinoblastoma is caused by mutations in the RB1 gene. The penetrance is 95%, as in approximately 5% of the mutation carriers, no second somatic mutation occurs in one of their retina cells during embryonic development. Molecular diagnosis is performed by a complete scanning of the RB1 coding sequence which includes flanking intronic sequences ...
Scheffer, H., Imhof, S.M., Moll, A.C.
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Retinoblastoma and tumor-suppressor gene therapy
Ophthalmology Clinics of North America, 2003Retinoblastoma as a genetic disease is a paradigm for tumor-suppressor gene theory. The RB gene is one of the best-studied tumor-suppressor genes with known key functions in controlling cell proliferation and differentiation. Reconstitution of RB function in RB-deficient tumor cells induces irreversible growth arrest (senescence) and inhibits ...
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The retinoblastoma gene and cell growth control
Trends in Biochemical Sciences, 1990Rare diseases often provide unique and fascinating insights into the workings of biological machinery. Retinoblastoma is a good example. This hereditary disease occurs rarely (in only one out of 20,000 children), yet it opens a 'window' into the mechanisms that sit at the very center of growth control in cells throughout the body.
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The retinoblastoma gene and gene product.
Cancer surveys, 1992Retinoblastoma, an uncommon childhood cancer of the eye, sometimes occurs in families but is often sporadic. Cytological analysis suggested that the retinoblastoma gene resided on chromosome 13 band q14. Subsequent isolation of the RB gene from this locus allowed a more detailed analysis, showing that both copies of RB are mutated or lost in ...
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Oncosuppressor genes: mechanisms of inactivation for the retinoblastoma gene and p53.
Bollettino della Societa italiana di biologia sperimentale, 1993Mutations that affect oncosuppressor genes contribute to transformed phenotype. The recessive characteristics of these genes require mutations on both alleles. For this reason alterations of the oncosuppressor genes can be transmitted with the germ line. In this review we focus on mechanisms of inactivation of the retinoblastoma gene and p53.
CLERICO L +3 more
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Retinoblastoma: Diagnosis and Management
Ca-A Cancer Journal for Clinicians, 1982David H Abramson
exaly