Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference26 articles.
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3. A gain-of-function mutation of JAK2 in myeloproliferative disorders;Kralovics;N. Engl. J. Med.,2005
4. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis;Levine;Cancer Cells,2005
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1. Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis;Haematologica;2023-06-15
2. Updates on Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitors in the Treatment of Renal Anemia;Kidney Diseases;2022-10-31
3. Novel Germline PHD2 Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia;Medicina;2022-08-17
4. Erythrocytosis: genes and pathways involved in disease development;BLOOD TRANSFUS-ITALY;2021
5. Roles of HIF and 2-Oxoglutarate-Dependent Dioxygenases in Controlling Gene Expression in Hypoxia;Cancers;2021-01-19
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