Associated Papers
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 2026
Elucidating loss-of-function mechanisms of monoallelic EPAS1 mutations underlying congenital hypoplastic anaemia in a paediatric anaemia cohort.
Zhang J et al.
British Journal of Haematology, 2025
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
Structural basis for binding of the renal carcinoma target hypoxia-inducible factor 2α to prolyl hydroxylase domain 2.
Figg WD et al.
Proteins, 2023
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Karaghiannis V et al.
Haematologica, 2023
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human.
Kristan A et al.
Genes, 2021
The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.
Kolonko-Adamska M et al.
International Journal of Molecular Sciences, 2021
Congenital erythrocytosis - A condition behind recurrent thromboses: A case report and literature review.
Anžej Doma S et al.
Clinical Hemorheology and Microcirculation, 2021
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.
Kristan A et al.
Frontiers in Genetics, 2021
Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.
Islam F et al.
Genes, 2020
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
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.
Alaikov T et al.
Hematology (amsterdam, Netherlands), 2016
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
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Gardie B et al.
Hypoxia (auckland, N.z.), 2014
Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.
Perrotta S et al.
Haematologica, 2013
Two new mutations in the HIF2A gene associated with erythrocytosis.
Percy MJ et al.
American Journal of Hematology, 2012