Results 31 to 40 of about 2,134,276 (240)
Direct Involvement of Retinoblastoma Family Proteins in DNA Repair by Non-homologous End-Joining. [PDF]
, 2015 Deficiencies in DNA double-strand break (DSB) repair lead to genetic instability, a recognized cause of cancer initiation and evolution. We report that the retinoblastoma tumor suppressor protein (RB1) is required for DNA DSB repair by canonical non ...
Spanswick, VJ +19 more
core +1 more source
The Journal of Pathology: Clinical Research, 2023 Fundoscopy is the standard method for diagnosis and follow‐up of intraocular retinoblastoma, but it is sometimes insufficient to discern whether tumors are inactivated following treatments.
Maria Cuadrado‐Vilanova +18 more
doaj +1 more source
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
openaire +5 more sources
Frontiers in Oncology, 2022 MDM2 is the principal inhibitor of p53, and MDM2 inhibitors can disrupt the physical interaction between MDM2 and p53. The half-life of p53 is very short in normal cells and tissues, and an uncontrolled increase in p53 levels has potential harmful ...
Arianna Romani +5 more
doaj +1 more source
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
openaire +3 more sources
Head and neck: Retinoblastoma [PDF]
, 2010 Review on Head and neck: Retinoblastoma, with data on clinics, and the genes ...
H Kiratli +3 more
core +1 more source
Analysis of the p53 pathway in peripheral blood of retinoblastoma patients; potential biomarkers.
PLoS ONE, 2020 Loss of retinoblastoma (RB) function in the cone cells during retina development is necessary but not sufficient for retinoblastoma development. It has been reported that in the absence of RB activity, a retinoma is generated, and the onset of retina ...
Mayra Martínez-Sánchez +4 more
doaj +1 more source
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
openaire +2 more sources
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
doaj +1 more source
Transcriptome analysis reveals molecularly distinct subtypes in retinoblastoma
Scientific Reports, 2023 Retinoblastoma is the most frequent intraocular malignancy in children. Little is known on the molecular basis underlying the biological and clinical behavior of this cancer. Here, using gene expression profiles, we demonstrate the existence of two major
Qi Zeng, Sha Wang, Lu Chen, Jinwei Wang
doaj +1 more source