Associated Papers
Mitochondrial VHL rewires cell metabolism in hypoxia.
Li G et al.
Cell Metabolism, 2026
Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility.
Yonamine M et al.
Genetic Testing and Molecular Biomarkers, 2025
Investigating the association of VHL gene variants with disease risk and clinicopathological outcomes in ccRCC patients from West Bengal, India.
Chatterjee S et al.
Urologic Oncology, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Fibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
Puttonen M et al.
Plos One, 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
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 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
Computational analysis of protein-protein interactions of cancer drivers in renal cell carcinoma.
Pei J et al.
Febs Open Bio, 2024
Variant allele frequency changes in TP53 predict pembrolizumab response in patients with metastatic urothelial carcinoma.
Hamada K et al.
Oncology Letters, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 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
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma.
Kim JH et al.
Journal of Medical Genetics, 2022
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population.
Choi H et al.
Endocrinology and Metabolism (seoul, Korea), 2020
Targeting the RhoGTPase/ROCK pathway for the treatment of VHL/HIF pathway-driven cancers.
Thompson JM et al.
Small Gtpases, 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
Comparison of Pheochromocytoma-Specific Morbidity and Mortality Among Adults With Bilateral Pheochromocytomas Undergoing Total Adrenalectomy vs Cortical-Sparing Adrenalectomy.
Neumann HPH et al.
Jama Network Open, 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 endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.
Bausch B et al.
Head & Neck, 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
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
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
Overexpression of miR-210 is associated with SDH-related pheochromocytomas, paragangliomas, and gastrointestinal stromal tumours.
Tsang VH et al.
Endocrine-related Cancer, 2014
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma.
Meyer-Rochow GY et al.
The Journal of Surgical Research, 2009
Late recurrence after surgical resection of a pancreatic tumor in von Hippel-Lindau disease.
Corleto VD et al.
Jop : Journal of the Pancreas, 2009
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2.
Boedeker CC et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Germline mutations in the von Hippel-Lindau disease (VHL) gene in mainland Chinese families.
Zhang J et al.
Journal of Cancer Research and Clinical Oncology, 2008
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
Endocrine pancreatic tumors in von Hippel-Lindau disease: clinical, histological, and genetic features.
Corcos O et al.
Pancreas, 2008
Biology of hypoxia-inducible factor-2alpha in development and disease.
Patel SA et al.
Cell Death and Differentiation, 2008
[Germ line mutations in Chinese kindreds with von Hippel-Lindau syndrome].
Zhang J et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007
[Analysis of two single nucleotide polymorphisms in von Hippel-Lindau gene and detection of loss of heterozygosity in Chinese sporadic renal cell carcinoma].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.
Gallou C et al.
Human Mutation, 2004