Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
HIF-2α is stabilized in von Hippel-Lindau (VHL)-deficient renal cell carcinoma through mechanisms that require ongoing mRNA translation.
|
22869144 |
2013 |
Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Proteomic analysis of signaling network regulation in renal cell carcinomas with differential hypoxia-inducible factor-2α expression.
|
23940778 |
2013 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
To investigate the oncolytic efficacy of a highly virulent (velogenic) Newcastle disease virus (NDV) in the presence or absence of HIF-2α, renal cell carcinoma (RCC) cell lines with defective or reconstituted wild-type (wt) von Hippel-Lindau (VHL) activity were used.
|
23506478 |
2013 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.
|
22010048 |
2012 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1.
|
22113997 |
2012 |
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Two new mutations in the HIF2A gene associated with erythrocytosis.
|
22367913 |
2012 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASCAT |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Reduced expression of fumarate hydratase in clear cell renal cancer mediates HIF-2α accumulation and promotes migration and invasion.
|
21695080 |
2011 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
Two correlated variants (r² = 0.99 in controls), rs11894252 (P = 1.8 × 10⁻⁸) and rs7579899 (P = 2.3 × 10⁻⁹), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.
|
21131975 |
2011 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma.
|
20032376 |
2009 |
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
|
19208626 |
2009 |
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
|
18184961 |
2008 |
Erythrocytosis, Familial, 4
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
Erythrocytosis, Familial, 4
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
|
18378852 |
2008 |
Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
LHGDN |
Renal cancer cells lacking hypoxia inducible factor (HIF)-1alpha expression maintain vascular endothelial growth factor expression through HIF-2alpha.
|
16920734 |
2007 |
Renal Cell Carcinoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Nox4 is critical for hypoxia-inducible factor 2-alpha transcriptional activity in von Hippel-Lindau-deficient renal cell carcinoma.
|
16230378 |
2005 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Identification of membrane type-1 matrix metalloproteinase as a target of hypoxia-inducible factor-2 alpha in von Hippel-Lindau renal cell carcinoma.
|
15592504 |
2005 |
Renal Cell Carcinoma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Effect of radiation and ibuprofen on normoxic renal carcinoma cells overexpressing hypoxia-inducible factors by loss of von Hippel-Lindau tumor suppressor gene function.
|
15217953 |
2004 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
RGD |
Up-regulation of hypoxia-inducible factor 2alpha in renal cell carcinoma associated with loss of Tsc-2 tumor suppressor gene.
|
12750296 |
2003 |
Renal Cell Carcinoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
EPAS1 was detected in all of the RCC cell lines examined.
|
11301389 |
2001 |
Erythrocytosis, Familial, 4
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Erythrocytosis, Familial, 4
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Paraganglioma
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Somatic HIF2A mutations (p.A530V, p.P531S, and p.D539N) were identified in DNA extracted from PGLs of 3 patients.
|
30644531 |
2019 |