Results 21 to 30 of about 40,097 (234)
Pleiotropic effects of the gene for retinoblastoma [PDF]
Journal of Medical Genetics, 1974 Vigorous treatment of retinoblastoma in the last 30 years has resulted in a large population of survivors with useful vision, in which the late effects of genetically associated tumours can be seen. An increase in second primary tumours, mainly osteogenic sarcoma, has been found in those children who carry the germinal mutations, and not in the ...
F D, Kitchin, R M, Ellsworth
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Frontiers in Genetics, 2022 Retinoblastoma is a common pediatric intraocular cancer, originating from cone precursors. The development of immunotherapies can help eradicate the tumor without vision loss, which would largely improve the quality of life of patients with ...
Peiyao Mao +3 more
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A retinoblastoma orthologue is a major regulator of S-phase, mitotic, and developmental gene expression in Dictyostelium. [PDF]
PLoS ONE, 2012 The retinoblastoma tumour suppressor, Rb, has two major functions. First, it represses genes whose products are required for S-phase entry and progression thus stabilizing cells in G1.
Kimchi Strasser +5 more
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MDM2 as a Modifier Gene in Retinoblastoma [PDF]
JNCI: Journal of the National Cancer Institute, 2010 Variability in the age of onset and number of tumors is occasionally described among retinoblastoma patients, and possible genetic modifiers might lie in the pRB or p53 pathways, both of which are involved in the development of retinoblastoma. MDM2, which increases p53 and pRB catabolism, is therefore a prominent candidate.
Laurent, Castéra +12 more
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Retinoblastoma: From genes to patient care
European Journal of Medical Genetics, 2023 Retinoblastoma is the most common paediatric neoplasm of the retina, and one of the earliest model of cancer genetics since the identification of the master tumour suppressor gene RB1. Tumorigenesis has been shown to be driven by pathogenic variants of the RB1 locus, but also genomic and epigenomic alterations outside the locus.
Y. Bouchoucha +14 more
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Networks of MicroRNAs and Genes in Retinoblastomas
Asian Pacific Journal of Cancer Prevention, 2013 Through years of effort, researchers have made notable progress in gene and microRNA fields about retinoblastoma morbidity. However, experimentally validated data for genes, microRNAs (miRNAs) and transcription factors (TFs) can only be found in a scattered form, which makes it difficult to conclude the relationship between genes and retinoblastoma ...
Jie, Li +5 more
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Clinical utility gene card for: Retinoblastoma [PDF]
European Journal of Human Genetics, 2010 European Journal of Human Genetics (2011) 19, doi:10.1038/ejhg.2010.200; published online 8 December 20101. DISEASE CHARACTERISTICS1.1 Name of the disease (synonyms)Retinoblastoma.1.2 OMIM# of the disease180200.1.3 Name of the analysed genes or DNA/chromosome segmentsRB1.1.4 OMIM# of the gene(s)180200.1.5 Mutational spectrumGermline mutations: point ...
Lohmann, Dietmar +3 more
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The Human Retinoblastoma Gene Is Imprinted
PLoS Genetics, 2009 Genomic imprinting is an epigenetic process leading to parent-of-origin-specific DNA methylation and gene expression. To date, approximately 60 imprinted human genes are known. Based on genome-wide methylation analysis of a patient with multiple imprinting defects, we have identified a differentially methylated CpG island in intron 2 of the ...
Deniz Kanber +8 more
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The Retinoblastoma Gene and its Significance
Annals of Medicine, 1994 The first human tumour suppressor gene, the Retinoblastoma Susceptibility gene (RB1) was first demonstrated in retinoblastoma, a rare paediatric eye tumour which has been studied extensively over the last century. Genetic studies of retinoblastoma have yielded unique insights into familial cancer syndromes and the mechanisms of oncogenesis by tumour ...
E L, Schubert, M F, Hansen, L C, Strong
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Fuzzy tandem repeats containing p53 response elements may define species-specific p53 target genes. [PDF]
PLoS Genetics, 2012 Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice ...
Iva Simeonova +7 more
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