Associated Papers
Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.
Ferens FG et al.
Communications Biology, 2024
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
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
EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.
Alaikov T et al.
Hematology (amsterdam, Netherlands), 2016
Advances in understanding the mechanisms of erythropoiesis in homeostasis and disease.
Liang R et al.
British Journal of Haematology, 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
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
Two new mutations in the HIF2A gene associated with erythrocytosis.
Percy MJ et al.
American Journal of Hematology, 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
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
[The 5q-syndrome as a disorder of the hemopoietic system: a disorder of the bone marrow function characterized by megakaryocytes without a lobulated nucleus and an acquired deletion of the long arm of chromosome 5].
Hupperets P et al.
Nederlands Tijdschrift Voor Geneeskunde, 1981