Associated Papers
Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.
Tao K et al.
Cancer Science, 2026
Advancing the Landscape of Clinical Actionability in Von Hippel-Lindau Syndrome: An Evidence-Based Framework from the INT2GRATE Oncology Consortium.
Koeller DR et al.
Cancers, 2025
Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.
Yang M et al.
Npj Precision Oncology, 2025
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
The role of next-generation sequencing in the examination of signaling genes in Brca1/2-negative breast cancer cases.
Cine N et al.
Annals of Human Genetics, 2023
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 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
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 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
Exploring the hereditary background of renal cancer in Denmark.
Christensen MB et al.
Plos One, 2019
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M et al.
Human Mutation, 2015
Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.
Houweling AC et al.
British Journal of Cancer, 2011
Selection of mutant CHO cells with constitutive activation of the HIF system and inactivation of the von Hippel-Lindau tumor suppressor.
Vaux EC et al.
The Journal of Biological Chemistry, 2001
A second major native von Hippel-Lindau gene product, initiated from an internal translation start site, functions as a tumor suppressor.
Schoenfeld A et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Functioning thoracic paraganglioma: association with Von Hippel-Lindau syndrome.
Bender BU et al.
The Journal of Clinical Endocrinology and Metabolism, 1997