Associated Papers
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
38418569 (PubMed )
Supplement: 42003_2024_5904_MOESM2_ESM.pdf
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V et al.
Haematologica, 2023
Genetic variability of hypoxia-inducible factor alpha (HIFA) genes in familial erythrocytosis: Analysis of the literature and genome databases.
Kristan A et al.
European Journal of Haematology, 2019
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
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