Associated Papers
<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.
Hou Y et al.
Molecular Medicine Reports, 2026
JAK2 Unmutated Erythrocytosis: 2026 Update on Diagnosis and Management.
Gangat N et al.
American Journal of Hematology, 2025
Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
Taber CC et al.
Elife, 2025
Endothelial PHD2 deficiency induces apoptosis resistance and inflammation via AKT activation and AIP1 loss independent of HIF2α.
Wang S et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2024
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
JAK2 unmutated erythrocytosis: 2023 Update on diagnosis and management.
Gangat N et al.
American Journal of Hematology, 2023
Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.
Ohh M et al.
Elife, 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
JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.
Gangat N et al.
Leukemia, 2021
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma.
Peng S et al.
Frontiers in Endocrinology, 2020
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Congenital erythrocytosis.
McMullin MF
International Journal of Laboratory Hematology, 2016
Computational analysis of prolyl hydroxylase domain-containing protein 2 (PHD2) mutations promoting polycythemia insurgence in humans.
Minervini G et al.
Scientific Reports, 2016
Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics.
Wilson R et al.
Case Reports in Hematology, 2016
Investigating the contribution of the active site environment to the slow reaction of hypoxia-inducible factor prolyl hydroxylase domain 2 with oxygen.
Tarhonskaya H et al.
The Biochemical Journal, 2014
Hereditary erythrocytosis, thrombocytosis and neutrophilia.
Hong WJ et al.
Best Practice & Research. Clinical Haematology, 2014
Mosaicism in HIF2A-related polycythemia-paraganglioma syndrome.
Buffet A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma.
Galan SR et al.
Clinical Endocrinology, 2013
Regulation of erythropoiesis by hypoxia-inducible factors.
Haase VH
Blood Reviews, 2013
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
Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
Astuti D et al.
Endocrine-related Cancer, 2011
The role of HIF prolyl hydroxylases in tumour growth.
Jokilehto T et al.
Journal of Cellular and Molecular Medicine, 2010
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
PHD2 mutation and congenital erythrocytosis with paraganglioma.
Ladroue C et al.
The New England Journal of Medicine, 2008