Associated Papers
Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
Taber CC et al.
Elife, 2025
Utility of next-generation sequencing in identifying congenital erythrocytosis in patients with idiopathic erythrocytosis.
Anžej Doma S et al.
Frontiers in Medicine, 2024
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Gangat N et al.
Haematologica, 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
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
Studies on the Substrate Selectivity of the Hypoxia-Inducible Factor Prolyl Hydroxylase 2 Catalytic Domain.
Abboud MI et al.
Chembiochem : a European Journal of Chemical Biology, 2018
Advances in understanding the mechanisms of erythropoiesis in homeostasis and disease.
Liang R et al.
British Journal of Haematology, 2016
Structural basis for oxygen degradation domain selectivity of the HIF prolyl hydroxylases.
Chowdhury R et al.
Nature Communications, 2016
Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.
Wilson R et al.
Case Reports in Hematology, 2016
Modulation of the Hypoxic Response.
Pugh CW
Advances in Experimental Medicine and Biology, 2016
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Amorim-Pires D et al.
Cytogenetic and Genome Research, 2016
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
Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene.
Albiero E et al.
Haematologica, 2012
Distinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemia.
Ladroue C et al.
Haematologica, 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
The complete evaluation of erythrocytosis: congenital and acquired.
Patnaik MM et al.
Leukemia, 2009
Biochemical characterization of human prolyl hydroxylase domain protein 2 variants associated with erythrocytosis.
Pappalardi MB et al.
Biochemistry, 2008
Role and regulation of prolyl hydroxylase domain proteins.
Fong GH et al.
Cell Death and Differentiation, 2008
A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove.
Percy MJ et al.
Blood, 2007