Associated Papers
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
37883464 (PubMed )
Supplement: supplementary_tables_marked_edit_ddad181.xlsx › Supplementary_Table_1
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR et al.
Plos Genetics, 2022
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Weighted
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
30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD
CCNE1 amplification is associated with poor prognosis in patients with triple negative breast cancer.
Zhao ZM et al.
Bmc Cancer, 2019
30665374 (PubMed )
Supplement: 12885_2019_5290_MOESM1_ESM.xlsx › CCNE1ms_forSupplData_FMOne_Pilo
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim J et al.
Genome Medicine, 2018
30583724 (PubMed )
Supplement: 13073_2018_607_MOESM3_ESM.xlsx › 115_variants_manually_reviewed
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s008.xlsx › S7_Table
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
27530247 (PubMed )
Supplement: 12885_2016_2688_MOESM3_ESM.xlsx › Sheet1
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1
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
Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice.
Albers J et al.
Embo Molecular Medicine, 2013
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
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
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan.
Zbar B et al.
Human Mutation, 1996
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