Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia. - Wikidata - awgldk - TriplyDB

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

http://www.wikidata.org/entity/Q34157665

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VHL type 2B mutations retain VBC complex form and function Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor proline A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis Regulation of human metabolism by hypoxia-inducible factor Hypoxic regulation of erythropoiesis and iron metabolism Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation von Hippel-Lindau disease: a clinical and scientific review Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders The VHL tumor suppressor: master regulator of HIF The human side of hypoxia-inducible factor Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis A gain-of-function mutation in the HIF2A gene in familial erythrocytosis A novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding groove Inhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growth A common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylation Hypoxia Inducible Factor Pathway and Physiological Adaptation: A Cell Survival Pathway?HIF hydroxylase pathways in cardiovascular physiology and medicine Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia.Iron, oxygen, and the pulmonary circulation Emerging concepts in the molecular basis of pulmonary arterial hypertension: part I: metabolic plasticity and mitochondrial dynamics in the pulmonary circulation and right ventricle in pulmonary arterial hypertension Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology PGK deficiency Hypoxia-inducible factors in the kidney HIF prolyl hydroxylase inhibitors for anemia Vhlh gene deletion induces Hif-1-mediated cell death in thymocytes Hypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse development Hypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivo The role of PHD2 mutations in the pathogenesis of erythrocytosis.JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Hypoxia regulates BMP4 expression in the murine spleen during the recovery from acute anemia.Myocardial transfection of hypoxia-inducible factor-1α and co-transplantation of mesenchymal stem cells enhance cardiac repair in rats with experimental myocardial infarction.Elevated homocysteine, glutathione and cysteinylglycine concentrations in patients homozygous for the Chuvash polycythemia VHL mutation.Erythrocytosis associated with a novel missense mutation in the HIF2A gene.Increased size of solid organs in patients with Chuvash polycythemia and in mice with altered expression of HIF-1alpha and HIF-2alpha.HIF-1alpha: a master regulator of innate host defenses?Mutations of von Hippel-Lindau tumor-suppressor gene and congenital polycythemia.Erythropoietin action in stress response, tissue maintenance and metabolism.Inhibition of hypoxia-inducible factor (HIF) hydroxylases by citric acid cycle intermediates: possible links between cell metabolism and stabilization of HIF.A genetic mechanism for Tibetan high-altitude adaptation.

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P2860

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

http://www.wikidata.org/entity/Q34157665

description

2002 nî lūn-bûn

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2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2002年の論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年論文

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2002年论文

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name

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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type

label

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

@en

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

@nl

prefLabel

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

@ast

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

@en

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

@nl

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Nature Genetics

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Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.

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Adelina I Sergueeva

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David Mole

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David W Stockton

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Enli Liu

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Galina Y Miasnikova

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Hua Chen

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Jaroslav Jelinek

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Josef T Prchal

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Patrick H Maxwell

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Sonny O Ang

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10.1038/NG1019

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4

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32

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Gregg L. Semenza

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2002-11-04T00:00:00Z

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11050663

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12415268

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