Associated Papers
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Genotype-specific neoplastic risk profiles in patients with VHL disease.
Ganner A et al.
Endocrine-related Cancer, 2025
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
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
Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.
Hao S et al.
Cancer Medicine, 2023
Potential Role of VHL, PTEN, and BAP1 Mutations in Renal Tumors.
Szegedi K et al.
Journal of Clinical Medicine, 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
Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report.
Yu M et al.
Bmc Cardiovascular Disorders, 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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
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
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M et al.
Acta Ophthalmologica, 2021
Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.
Zengin ZB et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.
Zhao Q et al.
Cancer Cell International, 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
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Whole-exome sequencing and immunohistochemistry findings in von Hippel-Lindau disease.
Guo X et al.
Molecular Genetics & Genomic Medicine, 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
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
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
The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel-Lindau Disease: A Retrospective Study of 32 Patients.
Ma K et al.
Frontiers in Oncology, 2019
Clinical and genetic investigation of a multi-generational Chinese family afflicted with Von Hippel-Lindau disease.
Zhang J et al.
Chinese Medical Journal, 2015
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Betge J et al.
Plos One, 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
Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.
Taylor C et al.
International Journal of Oncology, 2012
Family history of von Hippel-Lindau disease was uncommon in Chinese patients: suggesting the higher frequency of de novo mutations in VHL gene in these patients.
Wu P et al.
Journal of Human Genetics, 2012
Inactivation of the von Hippel-Lindau tumor suppressor leads to selective expression of a human endogenous retrovirus in kidney cancer.
Cherkasova E et al.
Oncogene, 2011