Associated Papers
Mitochondrial VHL rewires cell metabolism in hypoxia.
Li G et al.
Cell Metabolism, 2026
Mechanisms of resistance to VHL loss-induced genetic and pharmacological vulnerabilities.
Ge J et al.
Embo Molecular Medicine, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Li T et al.
Clinical Endocrinology, 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 2025
Molecular chaperones: Guardians of tumor suppressor stability and function.
Heritz JA et al.
Oncotarget, 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
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients.
Zhang K et al.
Journal of Medical Genetics, 2022
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
iASPP is essential for HIF-1α stabilization to promote angiogenesis and glycolysis via attenuating VHL-mediated protein degradation.
Zhao D et al.
Oncogene, 2022
pVHL-mediated SMAD3 degradation suppresses TGF-β signaling.
Zhou J et al.
The Journal of Cell Biology, 2022
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M et al.
Acta Ophthalmologica, 2021
Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.
Kamai T et al.
Cancer Science, 2021
VHL suppresses RAPTOR and inhibits mTORC1 signaling in clear cell renal cell carcinoma.
Ganner A et al.
Scientific Reports, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma.
Lasseter K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Von Hippel-Lindau tumor suppressor (VHL) stimulates TOR signaling by interacting with phosphoinositide 3-kinase (PI3K).
Hwang SH et al.
The Journal of Biological Chemistry, 2020
Targeting the RhoGTPase/ROCK pathway for the treatment of VHL/HIF pathway-driven cancers.
Thompson JM et al.
Small Gtpases, 2020
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Von Hippel-Lindau "Black Forest" mutation inherited in a large Chinese family.
Liu P et al.
Gland Surgery, 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
Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma.
Urbini M et al.
International Journal of Genomics, 2018
VHL missense mutations in the p53 binding domain show different effects on p53 signaling and HIFα degradation in clear cell renal cell carcinoma.
Razafinjatovo CF et al.
Oncotarget, 2017
Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
Pandit R et al.
European Journal of Endocrinology, 2016
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
Phospholipase D1 protein coordinates dynamic assembly of HIF-1α-PHD-VHL to regulate HIF-1α stability.
Park MH et al.
Oncotarget, 2014
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
Higher prevalence of novel mutations in VHL gene in Chinese Von Hippel-Lindau disease patients.
Wang X et al.
Urology, 2014
pVHL acts as a downstream target of E2F1 to suppress E2F1 activity.
Ji W et al.
The Biochemical Journal, 2014
Combined mutation of Vhl and Trp53 causes renal cysts and tumours in mice.
Albers J et al.
Embo Molecular Medicine, 2013