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
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M et al.
Haematologica, 2023
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai P et al.
Current Oncology (toronto, Ont.), 2022
36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_II-layout.pdf
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.
Lappin TR et al.
Blood Reviews, 2019
An Erythrocytosis-Associated Mutation in the Zinc Finger of PHD2 Provides Insights into Its Binding of p23.
Song D et al.
Hypoxia (auckland, N.z.), 2019
Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.
Sinnema M et al.
Blood, 2018
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