Associated Papers
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Metabolomic landscape of renal cell carcinoma in von Hippel-Lindau syndrome in a Chinese cohort.
Zhang Z et al.
Iscience, 2024
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
Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.
Pei J et al.
Febs Open Bio, 2024
Investigation of germline VHL variants in Iranian patients with retinal capillary hemangioblastoma and genotype-phenotype analysis.
Naseripour M et al.
Ophthalmic Genetics, 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
Detection of von Hippel-Lindau gene mutation in circulating cell-free DNA for clear cell renal cell carcinoma.
Sumiyoshi T et al.
Cancer Science, 2021
Expression of transgenes enriched in rare codons is enhanced by the MAPK pathway.
Peterson J et al.
Scientific Reports, 2020
Somatic Evolution in Non-neoplastic IBD-Affected Colon.
Olafsson S et al.
Cell, 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
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
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
Genotype-phenotype analysis of von Hippel-Lindau syndrome in Korean families: HIF-α binding site missense mutations elevate age-specific risk for CNS hemangioblastoma.
Lee JS et al.
Bmc Medical Genetics, 2016
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 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
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
Mutations in the von hippel-lindau tumour suppressor gene in central nervous system hemangioblastomas.
Cybulski C et al.
Hereditary Cancer in Clinical Practice, 2004
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