×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
A c.1363C>T (p.R455X ) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.
20059380
2010
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
Biomarker
disease
HPO
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
LHGDN
We have performed RB1 gene mutation analysis in eight patients with familial and/or bilateral retinoblastoma by DNA/RNA sequencing.
11668642
2001
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
Biomarker
disease
BEFREE
The RB1 gene from 12 human retinoblastoma tumors has been analyzed exon-by-exon with the single-strand conformation polymorphism technique.
8346255
1993
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
UNIPROT
We have analyzed the 27 exons and the promoter region of the RB1 gene in familial or sporadic bilateral retinoblastoma by using single-strand conformation polymorphism analysis.
8605116
1995
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma .
25424699
2015
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
CLINVAR
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
12541220
2003
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
10486322
1999
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
The genetic hallmark of retinoblastoma is mutation or deletion of the RB1 gene, whereas other genetic alterations that are also required are largely unknown.
15834944
2005
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Sixty-nine primary soft tissue tumours were examined for alterations of the RB1 gene which has previously been implicated in the genesis of retinoblastoma .
2765366
1989
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
PosttranslationalModification
disease
BEFREE
Thus, there are lineage-specific differences in both the regulation of Rb phosphorylation and RB1 gene expression in lymphoid and myeloid cells.
2320588
1990
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
CLINVAR
Generation of induced pluripotent stem cells (iPSCs) from a retinoblastoma patient carrying a c.2663G>A mutation in RB1 gene.
27879208
2016
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
LOVD v.2.0: the next generation in gene variant databases.
21520333
2011
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.
21615945
2011
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
[S. H. Friend, R. Bernards, S. Rogelj, R. A. Weinberg, J. M. Rapaport, D. M. Albert, and T. P. Dryja, Nature (London) 32:643-646, 1986] reported the cloning of a gene, 4.7R, with some properties expected for the RB1 gene, namely, a high frequency (30%) of genomic rearrangements in tumors and absence of message in all RB tumors examined.
2898730
1988
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
"Comment on ""Lowpenetrant RB allele in small-cell cancer shows geldanamycin instability and discordant expression with mutant ras"" by Park et al."
18682685
2008
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
18181215
2008
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
CLINVAR
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
24225018
2014
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
PosttranslationalModification
disease
BEFREE
These responses were alleviated following inactivation of murine RB1 (Rb1 ).
22556269
2012
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Examples include the RB1 gene for retinoblastoma ; the WT1 gene for Wilms' tumor; germline p53 mutations in families with the Li-Fraumeni syndrome; the NF1 and NF2 genes for neuroblastomatosis, types 1 and 2; the VHL gene for renal cancer and other tumors associated with Von Hippel-Lindau disease; the APC gene for adenomatous polyposis coli; the BRCA1 gene for hereditary breast and ovarian cancer; and the mismatch repair genes for colon and other common cancers.
8741802
1995
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
22963398
2013
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
CLINVAR
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
23532519
2013
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Mutations of the retinoblastoma (RB1 ) gene are not confined to retinoblastoma , but are also involved in the development of osteosarcoma.
2036639
1991
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
GeneticVariation
disease
BEFREE
Identification of oncogenic mutations in the RB1 gene aids in the clinical management of families with a heritable predisposition to RB .
24225018
2014
×
Entrez Id:
5925
Gene Symbol:
RB1
RB1
0.800
CausalMutation
disease
CLINVAR
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
8651278
1996