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
41114716 (PubMed )
Supplement: elife-107121-supp1.xlsx › Fig_1
Germline Variants in Idiopathic Erythrocytosis Identified by Multigene Panel Sequencing.
Park MS et al.
International Journal of Laboratory Hematology, 2025
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
Song D et al.
The Embo Journal, 2022
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.
Sinnema M et al.
Blood, 2018
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Oliveira JL et al.
American Journal of Hematology, 2018
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