Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE To assess the role of elongin B/C, Rbx1 and HIF-1alpha in RCC tumorigenesis we (a) mapped the genes to chromosomes 8q(cen) (elongin C), 16p13.3 (elongin B) and 22q11.2 (Rbx1) by FISH, monochromosomal somatic cell hybrid panel screening and in silico GenBank homology searching; (b) determined the genomic organisation of elongin C (by direct sequencing of PAC clones), Rbx1 and elongin B (by GenBank homology searching); and (c) performed mutation analysis of exons comprising the coding regions of elongins B, C and Rbx1 and the oxygen-dependent degradation domain of HIF-1alpha by SSCP screening and direct sequencing in 35 sporadic clear cell RCC samples without VHL gene inactivation and in 13 individuals with familial non-VHL clear cell RCC. 11526493 2001
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE The contribution of VHL substrate binding and HIF1-alpha to the phenotype of VHL loss in renal cell carcinoma. 12086861 2002
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE HIF-1alpha mRNA and protein upregulation involves Rho GTPase expression during hypoxia in renal cell carcinoma. 12697836 2003
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE Expression of HIF-1 and ubiquitin in conventional renal cell carcinoma: relationship to mutations of the von Hippel-Lindau tumor suppressor gene. 12781449 2003
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE However, quantitative analyses of VEGF production and its correlation with VHL mutations and HIF-1 alpha expression in authentic tissues from patients with RCC are lacking. 12853836 2003
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE Inactivation of the VHL TSG in VHL tumours and in sporadic clear cell renal cell carcinoma (RCC) results in overexpression of HIF-1 and HIF-2. 15220362 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE It has also been reported that a single nucleotide polymorphism (SNP) in exon 12 of HIF-1alpha gene is present in renal cell carcinoma and head and neck squamous cell carcinoma patients. 15492789 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE These findings show that polymorphisms of the HIF1A gene may confer susceptibility to RCC. 15350301 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Strict regulation of CAIX(G250/MN) by HIF-1alpha in clear cell renal cell carcinoma. 15184875 2004
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE We investigated the genetic changes in the VHL gene and HIF-1alpha and studied their clinical implications in patients with sporadic CC-RCC. 15809750 2005
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Previous reports have identified the existence of single nucleotide polymorphisms (SNPs) in the oxygen-dependent degradation domain of the HIF-1alpha gene in renal cell carcinoma, head and neck squamous cell carcinoma, and androgen-independent prostate cancer (AIPC). 16205110 2005
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE In VHL-defective RCC cells, we demonstrate that the protumorigenic genes encoding cyclin D1, transforming growth factor alpha, and vascular endothelial growth factor respond specifically to HIF-2alpha and that the proapoptotic gene encoding BNip3 responds positively to HIF-1alpha and negatively to HIF-2alpha, indicating that HIF-1alpha and HIF-2alpha have contrasting properties in the biology of RCC. 15964822 2005
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE Renal cell carcinoma risk in type 2 von Hippel-Lindau disease correlates with defects in pVHL stability and HIF-1alpha interactions. 16261165 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Thus, HIF-1 contributes to the epithelial-mesenchymal transition in VHL-null RCC by indirect repression of E-cadherin. 16510593 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE The discovery of a relationship for the VHL tumor suppressor gene, hypoxia inducible factor-1 alpha, and vascular endothelial growth factor in the growth of clear-cell renal cell carcinoma (RCC) has identified a pathway for novel targeted therapy. 17158546 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE To assess if HIF over expression is a prominent feature of other renal cell carcinoma histological subtypes we characterized the expression of HIF-1alpha and HIF-2alpha in genetically distinct early renal cortical tumors. 16600797 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE HIF-2alpha promotes von Hippel-Lindau (VHL)-deficient renal clear cell carcinoma (RCC) tumorigenesis, while HIF-1alpha inhibits RCC growth. 17418410 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Stabilization of HIF-2alpha, but not HIF-1alpha, is the critical oncogenic event upon the functional loss of VHL in the development of CC-RCC. 17998805 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE High-grade CC-RCC showed a higher ECP% (P=0.049), a higher TCP% (P=0.009), a higher VEGF protein expression (P<0.001), a lower MVD (P< 0.001) and a lower HIF-1alpha protein expression (P=0.002) than low-grade CC-RCC. 17505508 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE Collectively, HIF-1alpha activates hTERT and telomerase expression in both RCC and glioma cells, and HIF-2alpha enhances hTERT expression in RCC cells, whereas it represses the hTERT transcription in glioma cells. 17699105 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE HIF-1 inhibits mitochondrial biogenesis and cellular respiration in VHL-deficient renal cell carcinoma by repression of C-MYC activity. 17482131 2007
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Recently, the Rho/Rho-associated kinase (ROCK) signaling has been shown to play a key role in HIF-1alpha induction in renal cell carcinoma and trophoblast. 18566226 2008
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 GeneticVariation disease BEFREE In previous studies, the C1772T (P582S) or the G1790A (A588T) polymorphisms of the HIF-1alpha gene have been identified in renal cell carcinoma, head and neck and esophageal squamous cell carcinomas as well as colorectal and prostate cancers. 18949419 2008
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 AlteredExpression disease BEFREE Most RCCs result from inactivation of the von Hippel Lindau (VHL) tumor suppressor, leading to stable expression of Hypoxia-Inducible Factor-alpha (HIF-1alpha, -2alpha, -3alpha) and the induction of downstream target genes, including those responsible for angiogenesis and metastasis. 19483472 2009
Conventional (Clear Cell) Renal Cell Carcinoma
0.100 Biomarker disease BEFREE Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma. 20032376 2009