Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
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VHL type 2B mutations retain VBC complex form and functionErythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor prolineA family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasisRegulation of human metabolism by hypoxia-inducible factorHypoxic regulation of erythropoiesis and iron metabolismCardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutationvon Hippel-Lindau disease: a clinical and scientific reviewNatural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlandersThe VHL tumor suppressor: master regulator of HIFThe human side of hypoxia-inducible factorNovel exon 12 mutations in the HIF2A gene associated with erythrocytosisA gain-of-function mutation in the HIF2A gene in familial erythrocytosisA novel erythrocytosis-associated PHD2 mutation suggests the location of a HIF binding grooveInhibition of HIF2alpha is sufficient to suppress pVHL-defective tumor growthA common polymorphism in the oxygen-dependent degradation (ODD) domain of hypoxia inducible factor-1alpha (HIF-1alpha) does not impair Pro-564 hydroxylationHypoxia Inducible Factor Pathway and Physiological Adaptation: A Cell Survival Pathway?HIF hydroxylase pathways in cardiovascular physiology and medicineClinical Improvement with JAK2 Inhibition in Chuvash Polycythemia.Iron, oxygen, and the pulmonary circulationEmerging 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 hypertensionMutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiologyPGK deficiencyHypoxia-inducible factors in the kidneyHIF prolyl hydroxylase inhibitors for anemiaVhlh gene deletion induces Hif-1-mediated cell death in thymocytesHypoxia-inducible factor-1 deficiency results in dysregulated erythropoiesis signaling and iron homeostasis in mouse developmentHypoxia-inducible factor-2 (HIF-2) regulates hepatic erythropoietin in vivoThe 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.
P2860
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P2860
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
description
2002 nî lūn-bûn
@nan
2002 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
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
type
label
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
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
P2093
P356
P1433
P1476
Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia.
@en
P2093
Adelina I Sergueeva
David Mole
David W Stockton
Galina Y Miasnikova
Jaroslav Jelinek
Josef T Prchal
Patrick H Maxwell
Sonny O Ang
P2888
P304
P356
10.1038/NG1019
P407
P577
2002-11-04T00:00:00Z