Associated Papers
Mitochondrial VHL rewires cell metabolism in hypoxia.
Li G et al.
Cell Metabolism, 2026
Pheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Li T et al.
Clinical Endocrinology, 2025
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review.
Jo KH et al.
Annals of Laboratory Medicine, 2024
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Targeted deep sequencing reveals the genetic heterogeneity in well-differentiated pancreatic neuroendocrine tumors with liver metastasis.
Zhou W et al.
Hepatobiliary Surgery and Nutrition, 2023
Large scale genotype- and phenotype-driven machine learning in Von Hippel-Lindau disease.
Chiorean A et al.
Human Mutation, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma X et al.
Frontiers in Endocrinology, 2022
Targeting the RhoGTPase/ROCK pathway for the treatment of VHL/HIF pathway-driven cancers.
Thompson JM et al.
Small Gtpases, 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
Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling.
Heir P et al.
The Journal of Biological Chemistry, 2016
Somatic gain-of-function HIF2A mutations in sporadic central nervous system hemangioblastomas.
Taïeb D et al.
Journal of Neuro-oncology, 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
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S et al.
Journal of Human Genetics, 2014
Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.
Muscarella LA et al.
Journal of Neuropathology and Experimental Neurology, 2014
Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis.
Cho HJ et al.
Journal of Korean Medical Science, 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
Biology of hypoxia-inducible factor-2alpha in development and disease.
Patel SA et al.
Cell Death and Differentiation, 2008
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004
Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity.
Hansen WJ et al.
Molecular and Cellular Biology, 2002
Genotype-phenotype correlations in von Hippel-Lindau disease.
Neumann HP et al.
Journal of Internal Medicine, 1998
Risk Analysis of Retinal Hemangioblastomas in Nonadvanced Stages of von Hippel-Lindau Syndrome Using Ultra-widefield Imaging: The ULTRA von Hippel-Lindau Study.
Del Fabbro S et al.
Ophthalmology Science, 0