Associated Papers
Collision of Retinitis Pigmentosa and Von-Hippel Lindau Disease.
Zhuang X et al.
American Journal of Ophthalmology, 2026
Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.
Wang Q et al.
Current Oncology (toronto, Ont.), 2025
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease.
Ritter DI et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
Novel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.
Zhuang X et al.
Investigative Ophthalmology & Visual Science, 2025
Loss of SETD2 in wild-type VHL clear cell renal cell carcinoma sensitizes cells to STF-62247 and leads to DNA damage, cell cycle arrest, and cell death characteristic of pyroptosis.
Johnson M et al.
Molecular Oncology, 2025
Genomic analysis of small renal masses reveals mutations linked with renal cell carcinoma and fast-growing tumors.
Vaicekauskaitė I et al.
Journal of Cancer Research and Clinical Oncology, 2025
Mosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.
Mikhaylenko DS et al.
International Journal of Molecular Sciences, 2025
Genetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Gómez-Virgilio L et al.
Diagnostics (basel, Switzerland), 2024
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
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.
Li L et al.
Molecular Diagnosis & Therapy, 2023
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K et al.
Human Molecular Genetics, 2023
Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.
Vasudev NS et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is.
Salehipour D et al.
Database : the Journal of Biological Databases and Curation, 2023
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
Clinical and Genetic Characteristics of Retinal Capillary Hemangioblastoma in Korean Patients.
Lee SH et al.
Korean Journal of Ophthalmology : Kjo, 2022
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
Retroperitoneal paraganglioma with loss of heterozygosity of the von Hippel-Lindau gene: a case report and review of the literature.
Anno M et al.
Endocrine Journal, 2022
The First Case of Gastric Neuroendocrine Tumors Induced by a Proton Pump Inhibitor in von Hippel-Lindau Disease.
Kawaguchi K et al.
Internal Medicine (tokyo, Japan), 2022
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
VHL Ser65 mutations enhance HIF2α signaling and promote epithelial-mesenchymal transition of renal cancer cells.
Ma X et al.
Cell & Bioscience, 2022
Investigation of VHL gene associated with miR-223 in clear cell renal cell carcinoma.
Unal U et al.
Molecular Biology Reports, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Decrease of Intracellular Glutamine by STF-62247 Results in the Accumulation of Lipid Droplets in von Hippel-Lindau Deficient Cells.
Johnson M et al.
Frontiers in Oncology, 2022
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C et al.
Frontiers in Endocrinology, 2022
VHL syndrome without clear family history: A rare case report and literature review of Chinese patients.
Li Y et al.
Frontiers in Neurology, 2022
Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective.
Tong D et al.
Cancer Cell International, 2021
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
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
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Outcome and genetic analysis of patients affected by retinal capillary hemangioblastoma in von Hippel Lindau syndrome.
Murro V et al.
Molecular Vision, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Standard operating procedure for curation and clinical interpretation of variants in cancer.
Danos AM et al.
Genome Medicine, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
Schuster J et al.
Stem Cell Research, 2019
Differential Expression of PD-L1 Between Sporadic and VHL-Associated Hereditary Clear-Cell Renal Cell Carcinoma and Its Correlation With Clinicopathological Features.
Hong B et al.
Clinical Genitourinary Cancer, 2019