Associated Papers
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
Preliminary Study of Whole-Genome Bisulfite Sequencing and Transcriptome Sequencing in VHL Disease-Associated ccRCC.
Li L et al.
Molecular Diagnosis & Therapy, 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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).
Ricketts CJ et al.
Plos One, 2022
Molecular characterisation of sporadic endolymphatic sac tumours and comparison to von Hippel-Lindau disease-related tumours.
Schweizer L et al.
Neuropathology and Applied Neurobiology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
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
In silico VHL Gene Mutation Analysis and Prognosis of Pancreatic Neuroendocrine Tumors in von Hippel-Lindau Disease.
Tirosh A et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Patient-specific factors influence somatic variation patterns in von Hippel-Lindau disease renal tumours.
Fei SS et al.
Nature Communications, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 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
Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel-Lindau (VHL) disease.
Hwang S et al.
Journal of Human Genetics, 2014
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications.
Kim HJ et al.
The Laryngoscope, 2013
Proteostasis modulators prolong missense VHL protein activity and halt tumor progression.
Yang C et al.
Cell Reports, 2013
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
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes.
Dalgliesh GL et al.
Nature, 2010
Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis.
Forman JR et al.
Proteins, 2009
Computational detection of deleterious SNPs and their effect on sequence and structural level of the VHL gene.
Rajasekaran R et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2008
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
Patocs A et al.
Bmc Medical Genetics, 2008
Risk for cancer in patients with Bardet-Biedl syndrome and their relatives.
Hjortshøj TD et al.
American Journal of Medical Genetics. Part A, 2007
Genotype-phenotype correlations in von Hippel-Lindau disease.
Ong KR et al.
Human Mutation, 2007
VHL P25L is not a pathogenic von Hippel-Lindau mutation: a family study.
Pettman RK et al.
Molecular Diagnosis & Therapy, 2006
Tat-binding protein-1, a component of the 26S proteasome, contributes to the E3 ubiquitin ligase function of the von Hippel-Lindau protein.
Corn PG et al.
Nature Genetics, 2003
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma.
Gallou C et al.
Pharmacogenetics, 2001
Is the P25L a "real" VHL mutation?
Rothberg PG et al.
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology, 2001
Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.
Beales PL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2000
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene.
Stolle C et al.
Human Mutation, 1998