|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Retinoblastoma
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The familial form of RB occurs as the result of a germline mutation of one of the copies of the Rb1 gene.
|
1314630 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Classical examples are the Rb-1 gene associated with the development of retinoblastoma and the p53 gene, which is associated with a wider range of neoplasms, including breast cancer.
|
1336726 |
1992 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
|
1352883 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
|
1352883 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
|
1352883 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Analysis of clinical breast cancer samples showed that most of the cells contained two copies of the RB1 gene, even when restriction fragment length polymorphism analysis showed loss of heterozygosity (LOH) at the RB1 locus.
|
1354594 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Retinoblastoma (RB) tumors arise when both alleles of the RB1 gene are inactivated by two mutational events (M1 and M2).
|
1544317 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis.
|
1577465 |
1992 |
|
Retinoblastoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In order to evaluate the role of RB1 in cancer, the wild type RB1 gene was introduced into the RB1-deleted breast cancer cell line MDA-468-S4 and retinoblastoma cell lines WERI-Rb1 and Y-79.
|
1732054 |
1992 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to address a possible role for the human retinoblastoma susceptibility (RB1) gene in hematopoietic malignancies, 34 cases of different types of leukemia without chromosomal abnormalities at band 13q14 were analyzed by Southern blot hybridization.
|
1884351 |
1991 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It seems unlikely, in the foreseeable future, that direct genetic manipulation of mutant RB1 genes will play a role in therapy, but complete understanding of the function of p110RB1 may eventually allow exploitation of its powerful antiproliferative effect.
|
2006079 |
1991 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
These data suggest that the absence of both the 107kDa and 105kDa/Rb1 proteins may be involved in the development of the oncogenic phenotype of retinoblastoma cells.
|
2523032 |
1989 |
|
Retinoblastoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Expression of RB1 was also assessed in most samples by immunohistochemical detection of the RB1 protein in tissue sections.
|
2543943 |
1989 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
|
2594029 |
1989 |
|
Retinoblastoma
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Oncogenic point mutations in the human retinoblastoma gene: their application to genetic counseling.
|
2594029 |
1989 |
|
Retinoblastoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the RB1 gene and their effects on transcription.
|
2601691 |
1989 |
|
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 |
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 |