Associated Papers
Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.
Ferens FG et al.
Biology Methods & Protocols, 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
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 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
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
Germline genetic factors in the pathogenesis of myeloproliferative neoplasms.
Bellanné-Chantelot C et al.
Blood Reviews, 2020
Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.
McMullin MF
Hematology. American Society of Hematology. Education Program, 2019
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Loss of Phd2 cooperates with BRAFV600E to drive melanomagenesis.
Liu S 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
Genetic basis of congenital erythrocytosis.
Bento C
International Journal of Laboratory Hematology, 2018
Born to sense: biophysical analyses of the oxygen sensing prolyl hydroxylase from the simplest animal Trichoplax adhaerens.
Lippl K et al.
Hypoxia (auckland, N.z.), 2018
Cardiopulmonary phenotype associated with human PHD2 mutation.
Talbot NP et al.
Physiological Reports, 2017
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
Congenital erythrocytosis.
McMullin MF
International Journal of Laboratory Hematology, 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
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
A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.
Arsenault PR et al.
The Journal of Biological Chemistry, 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
Emerging novel functions of the oxygen-sensing prolyl hydroxylase domain enzymes.
Wong BW et al.
Trends in Biochemical Sciences, 2013
Clinical utility gene card for: familial erythrocytosis.
Hussein K et al.
European Journal of Human Genetics : Ejhg, 2012
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
Koivunen P et al.
Nature, 2012
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
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
HIF pathway mutations and erythrocytosis.
McMullin MF
Expert Review of Hematology, 2010