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
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Genetic modifications of EGLN1 reactivate HbF production in β0-thalassemia/HbE.
Jan-Ngam V et al.
Heliyon, 2024
Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.
Benetti A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 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
Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis.
Khurana H et al.
Omics : a Journal of Integrative Biology, 2023
Large-scale genome sequencing redefines the genetic footprints of high-altitude adaptation in Tibetans.
Zheng W et al.
Genome Biology, 2023
"What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras".
Amaru R et al.
Genes, 2023
The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
Song D et al.
The Embo Journal, 2022
A sex-specific evolutionary interaction between ADCY9 and CETP.
Gamache I et al.
Elife, 2021
Gain-of-function Tibetan PHD2D4E;C127S variant suppresses monocyte function: A lesson in inflammatory response to inspired hypoxia.
Bhattacharya S et al.
Ebiomedicine, 2021
Identifying adaptive alleles in the human genome: from selection mapping to functional validation.
Werren EA et al.
Human Genetics, 2021
Geographical ancestry affects normal hemoglobin values in high-altitude residents.
Mairbäurl H et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2020
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
Neural network correlates of high-altitude adaptive genetic variants in Tibetans: A pilot, exploratory study.
Guo Z et al.
Human Brain Mapping, 2020
Tibetan PHD2, an allele with loss-of-function properties.
Song D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson's Disease.
Chiang HL et al.
Parkinson's Disease, 2020
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.
Deng L et al.
National Science Review, 2019
Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.
Sha Y et al.
Bmc Medical Genetics, 2019
Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations.
Gurnari C et al.
British Journal of Haematology, 2019
Association Between Single Nucleotide Polymorphisms in PPARA and EPAS1 Genes and High-Altitude Appetite Loss in Chinese Young Men.
Pan W et al.
Frontiers in Physiology, 2019
Whole genome variant analysis in three ethnically diverse Indians.
Malhotra S et al.
Genes & Genomics, 2018
Functional Assays to Screen and Dissect Genomic Hits: Doubling Down on the National Investment in Genomic Research.
Musunuru K et al.
Circulation. Genomic and Precision Medicine, 2018
Endothelial Epas1 Deficiency Is Sufficient To Promote Parietal Epithelial Cell Activation and FSGS in Experimental Hypertension.
Luque Y et al.
Journal of the American Society of Nephrology : Jasn, 2017
Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.
Tashi T et al.
Journal of Molecular Medicine (berlin, Germany), 2017
Evolutionary selected Tibetan variants of HIF pathway and risk of lung cancer.
Lanikova L et al.
Oncotarget, 2017
Sherpas share genetic variations with Tibetans for high-altitude adaptation.
Bhandari S et al.
Molecular Genetics & Genomic Medicine, 2017
Advances in understanding the mechanisms of erythropoiesis in homeostasis and disease.
Liang R et al.
British Journal of Haematology, 2016
Insights into the proline hydroxylase (PHD) family, molecular evolution and its impact on human health.
Minervini G et al.
Biochimie, 2015
Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.
Zhang E et al.
International Journal of Molecular Sciences, 2014
A genetic mechanism for Tibetan high-altitude adaptation.
Lorenzo FR et al.
Nature Genetics, 2014
Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing.
Song D et al.
The Journal of Biological Chemistry, 2014
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C et al.
Human Mutation, 2014
[Fine mapping of complex disease susceptibility loci].
Song Q et al.
Yi Chuan = Hereditas, 2014
The role of PHD2 mutations in the pathogenesis of erythrocytosis.
Gardie B et al.
Hypoxia (auckland, N.z.), 2014
Identification of a Tibetan-specific mutation in the hypoxic gene EGLN1 and its contribution to high-altitude adaptation.
Xiang K et al.
Molecular Biology and Evolution, 2013