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
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L et al.
British Journal of Haematology, 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
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 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
Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience.
Anžej Doma S et al.
Annals of Hematology, 2021
HIF2A gain-of-function mutation modulates the stiffness of smooth muscle cells and compromises vascular mechanics.
Chan XY et al.
Iscience, 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
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.
Kristan A et al.
Frontiers in Genetics, 2021
Novel mutations in the EPO-R, VHL and EPAS1 genes in the Congenital Erythrocytosis patients.
Chandrasekhar C et al.
Blood Cells, Molecules & Diseases, 2020
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
A novel germline gain-of-function HIF2A mutation in hepatocellular carcinoma with polycythemia.
Yu J et al.
Aging, 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
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
Liu Q et al.
Cancer Biology & Therapy, 2017
Homology modeling and molecular dynamics simulation of the HIF2α degradation-related HIF2α-VHL complex.
Dong X et al.
Journal of Molecular Graphics & Modelling, 2017
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
Camps C et al.
Haematologica, 2016
Advances in understanding the mechanisms of erythropoiesis in homeostasis and disease.
Liang R et al.
British Journal of Haematology, 2016
Congenital erythrocytosis.
McMullin MF
International Journal of Laboratory Hematology, 2016
Outcomes of pregnancy in patients with congenital erythrocytosis.
McMullin MF et al.
British Journal of Haematology, 2015
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
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
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
Genotyping analysis and ¹⁸FDG uptake in breast cancer patients: a preliminary research.
Bravatà V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2013
Novel HIF2A mutations disrupt oxygen sensing, leading to polycythemia, paragangliomas, and somatostatinomas.
Yang C et al.
Blood, 2013
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
Involvement of oxygen-sensing pathways in physiologic and pathologic erythropoiesis.
Semenza GL
Blood, 2009
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline.
Furlow PW et al.
The Journal of Biological Chemistry, 2009
A novel heterozygous HIF2AM535I mutation reinforces the role of oxygen sensing pathway disturbances in the pathogenesis of familial erythrocytosis.
Martini M et al.
Haematologica, 2008
Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis.
Percy MJ et al.
Blood, 2008