Associated Papers
Mitochondrial VHL rewires cell metabolism in hypoxia.
Li G et al.
Cell Metabolism, 2026
Dysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.
Bi Y et al.
Clinical and Experimental Medicine, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
Jung NY et al.
Journal of Korean Neurosurgical Society, 2025
Total loss of VHL gene function impairs neuroendocrine cancer cell fitness due to excessive HIF2α activity.
Abu-Remaileh M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.
Suzuki Y et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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
VHL suppresses UBE3B-mediated breast tumor growth and metastasis.
Wang S et al.
Cell Death & Disease, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Delayed Cardiac Metastasis from Renal Cell Carcinoma Caused by VHL Mutation.
Sudduth CL et al.
Journal of Kidney Cancer and Vhl, 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
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
pVHL-mediated SMAD3 degradation suppresses TGF-β signaling.
Zhou J et al.
The Journal of Cell Biology, 2022
VHL suppresses RAPTOR and inhibits mTORC1 signaling in clear cell renal cell carcinoma.
Ganner A et al.
Scientific Reports, 2021
Genetic and clinical aspects of paediatric pheochromocytomas and paragangliomas.
Petenuci J et al.
Clinical Endocrinology, 2021
Corrigendum: Contrasting effects on HIF-1α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.
Clifford SC et al.
Human Molecular Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Genetic and epigenetic alterations in pancreatic neuroendocrine tumors.
Tirosh A et al.
Journal of Gastrointestinal Oncology, 2020
pVHL-mediated regulation of the anti-angiogenic protein thrombospondin-1 decreases migration of Clear Cell Renal Carcinoma Cell Lines.
Sevilla-Montero J et al.
Scientific Reports, 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
Structural basis for renal cancer by the dynamics of pVHL-dependent JADE1 stabilization and β-catenin regulation.
Shafique S et al.
Progress in Biophysics and Molecular Biology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
von Hippel-Lindau mutants in renal cell carcinoma are regulated by increased expression of RSUME.
Tedesco L et al.
Cell Death & Disease, 2019
Frequent Mutations of VHL Gene and the Clinical Phenotypes in the Largest Chinese Cohort With Von Hippel-Lindau Disease.
Hong B et al.
Frontiers in Genetics, 2019
Novel genotype-phenotype correlations in five Chinese families with Von Hippel-Lindau disease.
Liu Q et al.
Endocrine Connections, 2018