|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree.
|
20059380 |
2010 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the RB1 gene from Chinese families with a history of retinoblastoma.
|
25424699 |
2015 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma.
|
12541220 |
2003 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Temperature-sensitive RB mutations linked to incomplete penetrance of familial retinoblastoma in 12 families.
|
10486322 |
1999 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
LOVD v.2.0: the next generation in gene variant databases.
|
21520333 |
2011 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.
|
21615945 |
2011 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.
|
18181215 |
2008 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of RB1 mutations identified in 403 retinoblastoma patients.
|
24225018 |
2014 |
|
Retinoblastoma
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
These responses were alleviated following inactivation of murine RB1 (Rb1).
|
22556269 |
2012 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation spectrum of RB1 gene in Korean bilateral retinoblastoma patients using direct sequencing and gene dosage analysis.
|
22963398 |
2013 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Screening of RB1 alterations in Brazilian patients with retinoblastoma and relatives with retinoma: phenotypic and genotypic associations.
|
23532519 |
2013 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
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 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The spectrum of RB1 germ-line mutations in hereditary retinoblastoma.
|
8651278 |
1996 |