Associated Papers
Overlapping Presentations and Diverse Genetic Defects Characterize Neuroendocrine Neoplasms in a Mexican Cohort.
Hernández-Ramírez LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
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
Germline mutations in the VHL gene associated with 3 different renal lesions in a Chinese von Hippel-Lindau disease family.
Yuan P et al.
Cancer Biology & Therapy, 2016
Oxygen-dependent Regulation of Erythropoietin Receptor Turnover and Signaling.
Heir P et al.
The Journal of Biological Chemistry, 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
Genotype-phenotype correlations, and retinal function and structure in von Hippel-Lindau disease.
Wittström E et al.
Ophthalmic Genetics, 2014
K63-ubiquitylation of VHL by SOCS1 mediates DNA double-strand break repair.
Metcalf JL et al.
Oncogene, 2014
Mutation screening in a Norwegian cohort with pheochromocytoma.
Sjursen W et al.
Familial Cancer, 2013
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
Mans DA et al.
The Journal of Pathology, 2013
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
Russell RC et al.
Nature Medicine, 2011
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
Clusterin is a secreted marker for a hypoxia-inducible factor-independent function of the von Hippel-Lindau tumor suppressor protein.
Nakamura E et al.
The American Journal of Pathology, 2006
Distinct aerobic and hypoxic mechanisms of HIF-alpha regulation by CSN5.
Bemis L et al.
Genes & Development, 2004
Hypoxia inducible factor activates the transforming growth factor-alpha/epidermal growth factor receptor growth stimulatory pathway in VHL(-/-) renal cell carcinoma cells.
Gunaratnam L et al.
The Journal of Biological Chemistry, 2003
Tumorigenic mutations in VHL disrupt folding in vivo by interfering with chaperonin binding.
Feldman DE et al.
Molecular Cell, 2003
Regulation of microtubule stability by the von Hippel-Lindau tumour suppressor protein pVHL.
Hergovich A et al.
Nature Cell Biology, 2003
Molecular genetic alterations in adrenal and extra-adrenal pheochromocytomas and paragangliomas.
Dannenberg H et al.
Endocrine Pathology, 2003
Diverse effects of mutations in exon II of the von Hippel-Lindau (VHL) tumor suppressor gene on the interaction of pVHL with the cytosolic chaperonin and pVHL-dependent ubiquitin ligase activity.
Hansen WJ et al.
Molecular and Cellular Biology, 2002
von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.
Hoffman MA et al.
Human Molecular Genetics, 2001