Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Exploring the anticancer potential of hydrogen sulfide and BAY‑876 on clear cell renal cell carcinoma cells: Uncovering novel mutations in VHL and KDR genes among ccRCC patients.
Hamadamin PS et al.
Molecular and Clinical Oncology, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Genomic profiles of renal cell carcinoma in a small Chinese cohort.
Tai S et al.
Frontiers in Oncology, 2023
pVHL-mediated SMAD3 degradation suppresses TGF-β signaling.
Zhou J et al.
The Journal of Cell Biology, 2022
Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.
Tong D et al.
Cancer Cell International, 2021
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M et al.
Acta Ophthalmologica, 2021
Characterization of tumor mutation burden, PD-L1 and DNA repair genes to assess relationship to immune checkpoint inhibitors response in metastatic renal cell carcinoma.
Labriola MK et al.
Journal for Immunotherapy of Cancer, 2020
Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.
Zhao Q et al.
Cancer Cell International, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
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
Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance.
Razafinjatovo C et al.
Bmc Cancer, 2016
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.
de Leng WW et al.
Plos One, 2016
Selective Response to Mammalian Target of Rapamycin Inhibition in a Patient with Metastatic Renal Cell Carcinoma Bearing TSC1 Mutation.
Ali SM et al.
European Urology, 2015
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
The Roles of VHL-Dependent Ubiquitination in Signaling and Cancer.
Zhang Q et al.
Frontiers in Oncology, 2012
VHL gene mutations and their effects on hypoxia inducible factor HIFα: identification of potential driver and passenger mutations.
Rechsteiner MP et al.
Cancer Research, 2011
Inhibition of proteasome activity by bortezomib in renal cancer cells is p53 dependent and VHL independent.
Vaziri SA et al.
Anticancer Research, 2009
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
Rajasekaran R et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients.
Cascón A et al.
Human Mutation, 2007
Identification of the RNA polymerase II subunit hsRPB7 as a novel target of the von Hippel-Lindau protein.
Na X et al.
The Embo Journal, 2003
Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
Hergovich A et al.
Nature Cell Biology, 2003
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
Ang SO et al.
Nature Genetics, 2002
Identification of a deubiquitinating enzyme subfamily as substrates of the von Hippel-Lindau tumor suppressor.
Li Z et al.
Biochemical and Biophysical Research Communications, 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
Ubiquitination of a novel deubiquitinating enzyme requires direct binding to von Hippel-Lindau tumor suppressor protein.
Li Z et al.
The Journal of Biological Chemistry, 2002
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.
Gallou C et al.
Pharmacogenetics, 2001
Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation.
Jaakkola P et al.
Science (new York, N.y.), 2001
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein.
Cockman ME et al.
The Journal of Biological Chemistry, 2000
Identification of the von Hippel-lindau tumor-suppressor protein as part of an active E3 ubiquitin ligase complex.
Iwai K et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
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
Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.
Khaliq S et al.
Mutation Research, 0