Associated Papers
[Familial erythrocytosis type 2 due to VHL germline mutations: a case report and literature review].
Liu NN et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Genetic evidence for the suppressive role of zebrafish vhl targeting mavs in antiviral innate immunity during RNA virus infection.
Sun X et al.
Journal of Immunology (baltimore, Md. : 1950), 2025
von Hippel-Lindau syndrome-related congenital polycythemia and response to belzutifan.
Siqueira Do Amaral P et al.
Haematologica, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
Serghini A et al.
Human Molecular Genetics, 2024
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 2022
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.
Hudler P et al.
Genes, 2022
Heritable disorders of oxygen sensing.
Semenza GL
American Journal of Medical Genetics. Part A, 2021
Heritable disorders of oxygen sensing.
Semenza GL
American Journal of Medical Genetics. Part A, 2021
Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient.
Núñez-Martínez PM et al.
Boletin Medico Del Hospital Infantil De Mexico, 2021
rs779805 Von Hippel-Lindau Gene Polymorphism Induced/Related Polycythemia Entity, Clinical Features, Cancer Association, and Familiar Characteristics.
Remenyi G et al.
Pathology Oncology Research : Por, 2021
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
The pVHL neglected functions, a tale of hypoxia-dependent and -independent regulations in cancer.
Minervini G et al.
Open Biology, 2020
The Roles of Cullin-2 E3 Ubiquitin Ligase Complex in Cancer.
Liu X et al.
Advances in Experimental Medicine and Biology, 2020
Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.
Fields FR et al.
Plos One, 2020
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Translational repression of HIF2α expression in mice with Chuvash polycythemia reverses polycythemia.
Ghosh MC et al.
The Journal of Clinical Investigation, 2018
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Amorim-Pires D et al.
Cytogenetic and Genome Research, 2016
Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M et al.
Human Mutation, 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
The homozygous VHL(D126N) missense mutation is associated with dramatically elevated erythropoietin levels, consequent polycythemia, and early onset severe pulmonary hypertension.
Sarangi S et al.
Pediatric Blood & Cancer, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
RUNX1 and NF-E2 upregulation is not specific for MPNs, but is seen in polycythemic disorders with augmented HIF signaling.
Kapralova K et al.
Blood, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia.
Lorenzo FR et al.
British Journal of Haematology, 2013
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.
Lanikova L et al.
Blood, 2013
A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma.
Lorenzo FR et al.
Journal of Molecular Medicine (berlin, Germany), 2013
The phenotype of polycythemia due to Croatian homozygous VHL (571C>G:H191D) mutation is different from that of Chuvash polycythemia (VHL 598C>T:R200W).
Tomasic NL et al.
Haematologica, 2013
Von Hippel-Lindau disease (VHL): a need for a murine model with retinal hemangioblastoma.
Park S et al.
Histology and Histopathology, 2012
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
Loss of JAK2 regulation via a heterodimeric VHL-SOCS1 E3 ubiquitin ligase underlies Chuvash polycythemia.
Russell RC et al.
Nature Medicine, 2011
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
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
Evaluation of "increased" hemoglobin in the JAK2 mutations era: a diagnostic algorithm based on genetic tests.
Tefferi A et al.
Mayo Clinic Proceedings, 2007
Genetically heterogeneous origins of idiopathic erythrocytosis.
Percy MJ
Hematology (amsterdam, Netherlands), 2007
Genetic mechanisms underlying regulation of hemoglobin mass.
Agarwal N et al.
Advances in Experimental Medicine and Biology, 2007