Associated Papers
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C et al.
Frontiers in Endocrinology, 2022
Corrigendum: Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
Clifford SC et al.
Human Molecular Genetics, 2021
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
Genotype-phenotype relations of the von Hippel-Lindau tumor suppressor inferred from a large-scale analysis of disease mutations and interactors.
Minervini G et al.
Plos Computational Biology, 2019
Targeted molecular profiling of rare genetic alterations in colorectal cancer using next-generation sequencing.
Jauhri M et al.
Medical Oncology (northwood, London, England), 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.
Gossage L et al.
Human Molecular Genetics, 2014
A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts.
Cingoz S et al.
Familial Cancer, 2013
Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population.
Leonardi E et al.
Annals of Human Genetics, 2011
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
Forman JR et al.
Proteins, 2009
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes.
Bangiyeva V et al.
Bmc Cancer, 2009
Distinct aerobic and hypoxic mechanisms of HIF-alpha regulation by CSN5.
Bemis L et al.
Genes & Development, 2004
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V.
Weirich G et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Comprehensive mutational analysis of the VHL gene in sporadic renal cell carcinoma: relationship to clinicopathological parameters.
Kondo K et al.
Genes, Chromosomes & Cancer, 2002
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
Clifford SC et al.
Human Molecular Genetics, 2001
Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC.
Gallou C et al.
Human Mutation, 1999
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998