Associated Papers
Molecular chaperones: Guardians of tumor suppressor stability and function.
Heritz JA et al.
Oncotarget, 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
38332991 (PubMed )
Supplement: Supplementary_Data4.xlsx › Gene_mutationsMon_Jul_10_22_36_
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
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Amplicon-Based NGS Panels for Actionable Cancer Target Identification in Follicular Cell-Derived Thyroid Neoplasia.
Madsen MB et al.
Frontiers in Endocrinology, 2020
32265839 (PubMed )
Supplement: Table_1.pdf
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
33151962 (PubMed )
Supplement: pone.0234100.s006.xlsx › Missense_Mutations_Unweighted
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
30943211 (PubMed )
Supplement: pcbi.1006478.s001.xlsx › AlignGVGD
Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome.
Shmueli MD et al.
Oncogene, 2019
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
24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp_table.xlsx › Supplementary_Table_2A
Structural insights into the folding defects of oncogenic pVHL lead to correction of its function in vitro.
Shmueli MD et al.
Plos One, 2013
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