Associated Papers
Nonstop mutations cause loss of renal tumor suppressor proteins VHL and BAP1 and affect multiple stages of protein translation.
Pal J et al.
Science Advances, 2025
39937911 (PubMed )
Supplement: sciadv.adr6375_tables_s1_to_s3.zip › adr6375_tables_s1_to_s3.xlsx › S1_-_Nonstop_Mutations
A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?
Azimi F et al.
Molecular Genetics and Genomics : Mgg, 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
36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL
Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.
Krauss T et al.
Endocrine-related Cancer, 2018
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Amorim-Pires D et al.
Cytogenetic and Genome Research, 2016
Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).
Ricketts CJ et al.
Plos One, 2015
26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic Genetics, 2014
Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma.
Sorrell AD et al.
Clinical Genetics, 2011
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