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
Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.
Taber CC et al.
Elife, 2025
Tibetan PHD2D4E;C127S variant protects from viral diseases in hypoxia, but predispose to infections in normoxia via HIFα:IFN axis.
Ghosh R et al.
Plos Pathogens, 2025
Two Novel Genetic Variants Involved in the Oxygen Sensing Pathway in JAK2-unmutated Erythrocytosis.
Ma Q et al.
Biochemical Genetics, 2025
A highland-adaptation variant near MCUR1 reduces its transcription and attenuates erythrogenesis in Tibetans.
Ping J et al.
Cell Genomics, 2025
40043709 (PubMed )
Supplement: mmc1.pdf
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo
Genetic modifications of EGLN1 reactivate HbF production in β0-thalassemia/HbE.
Jan-Ngam V et al.
Heliyon, 2024
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