Associated Papers
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.
Karaghiannis V et al.
American Journal of Human Genetics, 2025
Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.
Buckley M et al.
Nature Genetics, 2024
38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1
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_
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
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
Commentary on "Single nucleotide polymorphisms and risk of recurrence of renal-cell carcinoma: a cohort study." Schutz FA, Pomerantz MM, Gray KP, Atkins MB, Rosenberg JE, Hirsch MS, McDermott DF, Lampron ME, Lee GS, Signoretti S, Kantoff PW, Freedman ML, Choueiri TK, Dana-Farber Cancer Institute, Boston, MA 02115.: Lancet Oncol 2013;14(1):81-87. [Epub 2012 Dec 7]. doi: 10.1016/S1470-2045(12)70517-X. Erratum in, Lancet Oncol 2013;14(3):e89.
Meng M
Urologic Oncology, 2014
Single nucleotide polymorphisms and risk of recurrence of renal-cell carcinoma: a cohort study.
Schutz FA et al.
The Lancet. Oncology, 2013
Epigenetic regulation in RCC: opportunities for therapeutic intervention?
Larkin J et al.
Nature Reviews. Urology, 2012
Select a paper to view details