Osteosarcoma
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Osteosarcoma
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In summary, 7/14 or 6/8 cases of osteosarcomas (including only those cases which allowed both analyses) showed RB1 gene alteration.
|
1524989 |
1992 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Structural aberrations within the RB1 gene have been studied in fresh samples of eleven cases of osteosarcoma.
|
2036639 |
1991 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
This suggests that loss of the RB1 gene or an OSRC gene closely linked to the ESD and RB1 gene loci is involved in the development of the osteosarcoma tumor.
|
2878716 |
1987 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
RB1 gene is also of major importance for the tumorigenesis of OS.
|
7479379 |
1995 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, analysis of RB1 expression and of RB1 mutations in different tumors leads to the following dilemma: while the RB1 gene product, p110RB1, is expressed in most dividing cells, germline mutations inactivating the function of p110RB1 predispose primarily to retinoblastoma and to a lesser extent to osteosarcoma, but do not predispose to cancer in general.
|
8344484 |
1993 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This deletion may indicate that loss of RB1 gene (locus in 13q14) may be involved in the development of radiation-induced osteosarcoma.
|
8374897 |
1993 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletion of Rb1 gene in late osteosarcoma from survivor of unilateral retinoblastoma--a case report.
|
8703379 |
1996 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Twenty-one osteosarcomas (2 low-grade and 19 high-grade) were evaluated for homozygous deletion of the CDKN2A gene, CDK4 amplification, and allelic loss of the RB gene, as well as for expression of p16 and pRb proteins.
|
9665476 |
1998 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Together, these results demonstrated that amplified c-myc, mutant p53, and RB1 genes seem to be important in osteosarcoma tumorigenicity and that an additional altered gene or genes on chromosome 22 may play a key role in osteosarcoma tumorigenicity.
|
10331742 |
1999 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
ORPHANET |
Osteosarcoma following retinoblastoma: age at onset and latency period.
|
11449317 |
2001 |
Osteosarcoma
|
0.700 |
PosttranslationalModification
|
disease |
BEFREE |
We examined the methylation status of the RB1 gene in 25 osteosarcoma specimens by using the methylation-sensitive restriction enzymes SacII and SmaI.
|
14660307 |
2004 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To evaluate the impact of dihydrofolate reductase (DHFR) and reduced folate carrier (RFC) genes on methotrexate (MTX) resistance in osteosarcoma cells in relation to retinoblastoma (RB1) gene status.
|
14679136 |
2004 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some of the genetic changes identified were in tumor suppressor genes previously identified as altered in osteosarcoma: p53 (arginine→histidine at codon 273 [R273H], R→cysteine at codon 723 [R273C], and tyrosine→C at codon 163 [Y163C]) and retinoblastoma 1 (RB1) (glutamic acid→* at codon 137 [E137*]).
|
22006429 |
2012 |
Osteosarcoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A Rb1 promoter variant with reduced activity contributes to osteosarcoma susceptibility in irradiated mice.
|
25092376 |
2014 |
Osteosarcoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
In addition, GCIP overexpression activated retinoblastoma 1 (Rb) and suppressed E2F transcriptional target expression in osteosarcoma cells.
|
26107195 |
2015 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that RB1 alterations may serve as a prognostic marker for the management of osteosarcoma patients.
|
26503016 |
2017 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The present study examined the expression levels of UHRF1 and retinoblastoma 1 (Rb1) in human osteosarcoma cell lines by western blot analysis.
|
26548607 |
2016 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
In conclusion, the present results suggest that RBEL1 modulates cell proliferation and G1‑S transition by inhibiting Rb in osteosarcoma.
|
26676380 |
2016 |
Osteosarcoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
Ezrin Inhibition Up-regulates Stress Response Gene Expression.
|
27137931 |
2016 |