|
Noonan Syndrome
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy.
|
24705357 |
2014 |
|
Noonan Syndrome
|
0.510 |
Biomarker
|
disease |
CLINGEN |
We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy.
|
24705357 |
2014 |
|
Noonan Syndrome
|
0.510 |
Biomarker
|
disease |
CLINGEN |
The RASopathies.
|
23875798 |
2013 |
|
Noonan Syndrome
|
0.510 |
GeneticVariation
|
disease |
ORPHANET |
We report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy.
|
24705357 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
0.510 |
GeneticVariation
|
disease |
ORPHANET |
We also identified somatic RRAS mutations (p.Gly39dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia.
|
24705357 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
We also identified somatic RRAS mutations (p.Gly39dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia.
|
24705357 |
2014 |
|
Juvenile Myelomonocytic Leukemia
|
0.510 |
Biomarker
|
disease |
CTD_human |
The genomic landscape of juvenile myelomonocytic leukemia.
|
26457647 |
2015 |
|
Malignant neoplasm of prostate
|
0.340 |
AlteredExpression
|
disease |
BEFREE |
Immunohistochemical studies have demonstrated increased p23 expression in advanced prostate cancer.
|
25241147 |
2015 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
These results highlight a previously uncharacterized subfamily of Ras-related genes that may have a tumor suppressor role in prostate cancer.
|
15033445 |
2004 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
CTD_human |
Identification of genes potentially involved in the acquisition of androgen-independent and metastatic tumor growth in an autochthonous genetically engineered mouse prostate cancer model.
|
17013881 |
2007 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
In human prostate tumors, nuclear p23 was higher in malignant prostate cells compared with benign/normal cells, supporting the utility of p23 as a therapeutic target in prostate cancer.
|
22899854 |
2012 |
|
Malignant neoplasm of prostate
|
0.340 |
Biomarker
|
disease |
BEFREE |
The 8p22 through p23 region has been identified as a potential site for genes associated with prostate cancer.
|
12377406 |
2002 |
|
LEOPARD Syndrome
|
0.300 |
Biomarker
|
disease |
CLINGEN |
|
|
|
|
Costello syndrome (disorder)
|
0.300 |
Biomarker
|
disease |
CLINGEN |
|
|
|
|
Cardio-facio-cutaneous syndrome
|
0.300 |
Biomarker
|
disease |
CLINGEN |
|
|
|
|
Noonan syndrome-like disorder with loose anagen hair
|
0.300 |
Biomarker
|
disease |
CLINGEN |
|
|
|
|
Noonan-Like Syndrome With Loose Anagen Hair
|
0.300 |
Biomarker
|
disease |
CLINGEN |
|
|
|
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
High nuclear p23 was found to be associated with high cytoplasmic p23, therefore both may promote tumor progression and poor prognosis by increasing metastatic potential and drug resistance in breast cancer patients.
|
20847343 |
2010 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
ARHI is a Ras-related small G-protein with a novel N-terminal extension that inhibits growth of ovarian and breast cancers.
|
12771940 |
2003 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tools to study the function of the Ras-related, estrogen-regulated growth inhibitor in breast cancer.
|
18374156 |
2008 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
This makes p23 an attractive target for combating tumor cell metastasis in breast cancer patients.
|
22074947 |
2012 |
|
Malignant neoplasm of breast
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Contradicting the positive association reported in previous studies, our results indicate that R-Ras activation may negatively regulate the transformation of breast epithelial cells, and the loss of activation of R-Ras may be involved in the carcinogenesis of breast cancer.
|
24700169 |
2014 |
|
Malignant neoplasm of breast
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Ras-related gene ERAS is involved in human and murine breast cancer.
|
30158566 |
2018 |
|
Malignant neoplasm of breast
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Recent studies have found that high level of p23 may promote tumor progression and poor prognosis in breast cancer patients. p23 was found to be overexpressed in our previous microarray assay of 100 childhood acute lymphoblastic leukemia (ALL) bone marrow (BM) samples.
|
22677230 |
2012 |