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
Integration and Visualization of Regulatory Elements and Variations of the EPAS1 Gene in Human.
Kristan A et al.
Genes, 2021
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
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
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
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.
Tarade D et al.
Nature Communications, 2018
HIF2A germline-mutation-induced polycythemia in a patient with VHL-associated renal-cell carcinoma.
Liu Q et al.
Cancer Biology & Therapy, 2017
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
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
Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.
Tan Q et al.
The Journal of Biological Chemistry, 2013
HIF2 and endocrine neoplasia: an evolving story.
Maher ER
Endocrine-related Cancer, 2013
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
Erythrocytosis associated with a novel missense mutation in the HIF2A gene.
van Wijk R et al.
Haematologica, 2010
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010
Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma.
Morris MR et al.
Anticancer Research, 2009
The complete evaluation of erythrocytosis: congenital and acquired.
Patnaik MM et al.
Leukemia, 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
Genetic origins and clinical phenotype of familial and acquired erythrocytosis and thrombocytosis.
Percy MJ et al.
American Journal of Hematology, 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
Familial erythrocytosis arising from a gain-of-function mutation in the HIF2A gene of the oxygen sensing pathway.
Percy MJ
The Ulster Medical Journal, 2008
A gain-of-function mutation in the HIF2A gene in familial erythrocytosis.
Percy MJ et al.
The New England Journal of Medicine, 2008