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
"Transcriptional Regulation of human NMNAT2: Insights from 3D Genome Sequencing and Bioinformatics".
Chang YC et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic modifications of EGLN1 reactivate HbF production in β0-thalassemia/HbE.
Jan-Ngam V et al.
Heliyon, 2024
Targeted NGS analysis reveals a complex genetic background of idiopathic erythrocytosis in a large Venetian family.
Bertozzi I et al.
Genes & Diseases, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 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
"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
Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report.
Chen X et al.
Bmc Ophthalmology, 2022
Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.
Pape K et al.
Cancers, 2022
Effects of idiopathic erythrocytosis on the left ventricular diastolic functions and the spectrum of genetic mutations: A case control study.
Yesilaltay A et al.
Medicine, 2022
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J et al.
Blood Transfusion = Trasfusione Del Sangue, 2021
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
Adrenal Corticomedullary Mixed Tumor Associated With the FGFR4-G388R Variant.
Kanzawa M et al.
Journal of the Endocrine Society, 2020
The Genomics and Genetics of Oxygen Homeostasis.
Semenza GL
Annual Review of Genomics and Human Genetics, 2020
Cystathione β-synthase regulates HIF-1α stability through persulfidation of PHD2.
Dey A et al.
Science Advances, 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
Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders.
Yasukochi Y et al.
Biomed Research International, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Genetic analysis of erythrocytosis reveals possible causative and modifier gene mutations.
Gurnari C et al.
British Journal of Haematology, 2019
An EGLN1 mutation may regulate hypoxic response in cyanotic congenital heart disease through the PHD2/HIF-1A pathway.
Zhou Y et al.
Genes & Diseases, 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