Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation - Wikidata - awgldk - TriplyDB

Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation

Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation

http://www.wikidata.org/entity/Q36928937

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HIF hydroxylase pathways in cardiovascular physiology and medicine Iron, oxygen, and the pulmonary circulation Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensing Human high-altitude adaptation: forward genetics meets the HIF pathway.Contrasting effects of ascorbate and iron on the pulmonary vascular response to hypoxia in humans.Deletion of STAT5a/b in vascular smooth muscle abrogates the male bias in hypoxic pulmonary hypertension in mice: implications in the human disease.Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension Using diverse U.S. beef cattle genomes to identify missense mutations in EPAS1, a gene associated with pulmonary hypertension.A non-synonymous SNP with the allele frequency correlated with the altitude may contribute to the hypoxia adaptation of Tibetan chicken The Endothelial Prolyl-4-Hydroxylase Domain 2/Hypoxia-Inducible Factor 2 Axis Regulates Pulmonary Artery Pressure in Mice.Clinical iron deficiency disturbs normal human responses to hypoxia.Prolyl-4 Hydroxylase 2 (PHD2) Deficiency in Endothelial Cells and Hematopoietic Cells Induces Obliterative Vascular Remodeling and Severe Pulmonary Arterial Hypertension in Mice and Humans Through Hypoxia-Inducible Factor-2α.The Zinc Finger of Prolyl Hydroxylase Domain Protein 2 Is Essential for Efficient Hydroxylation of Hypoxia-Inducible Factor α.A knock-in mouse model of human PHD2 gene-associated erythrocytosis establishes a haploinsufficiency mechanism.Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.The von Hippel-Lindau Chuvash mutation in mice alters cardiac substrate and high-energy phosphate metabolism.HIF and pulmonary vascular responses to hypoxia.The von Hippel-Lindau Chuvash mutation in mice causes carotid-body hyperplasia and enhanced ventilatory sensitivity to hypoxia Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.Hypoxia as a key player in the AKI-to-CKD transition.Molecular mechanisms of hypoxia-inducible factor-induced pulmonary arterial smooth muscle cell alterations in pulmonary hypertension.The pulmonary vasculature--lessons from Tibetans and from rare diseases of oxygen sensing.Regulation of ventilatory sensitivity and carotid body proliferation in hypoxia by the PHD2/HIF-2 pathway Hypoxia Inducible Factor-2 Alpha and Prolinhydroxylase 2 Polymorphisms in Patients with Acute Respiratory Distress Syndrome (ARDS).Hypoxia-Inducible Factor Stabilizers: a New Avenue for Reducing BP While Helping Hemoglobin?Lung Circulation.Advances in understanding the mechanisms of erythropoiesis in homeostasis and disease.Discovery of a murine model of clinical PAH: Mission impossible?A Somatic HIF2α Mutation-Induced Multiple and Recurrent Pheochromocytoma/Paraganglioma with Polycythemia: Clinical Study with Literature Review.HIF-2α-mediated induction of pulmonary thrombospondin-1 contributes to hypoxia-driven vascular remodelling and vasoconstriction Elevation of iron storage in humans attenuates the pulmonary vascular response to hypoxia.Loss of prolyl hydroxylase domain protein 2 in vascular endothelium increases pericyte coverage and promotes pulmonary arterial remodeling.EPAS1 p.M535T mutation in a Bulgarian family with congenital erythrocytosis.Hypoxia-Inducible Factor and Its Role in the Management of Anemia in Chronic Kidney Disease.Expansion of EPOR-negative macrophages besides erythroblasts by elevated EPOR signaling in erythrocytosis mouse models.Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.'Hypoxio-spondin': thrombospondin and its emerging role in pulmonary hypertension.The hypoxia inducible factor/erythropoietin (EPO)/EPO receptor pathway is disturbed in a rat model of chronic kidney disease related anemia.HIF-2α is essential for carotid body development and function.

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Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation

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2013 nî lūn-bûn

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2013年论文

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Erythrocytosis and pulmonary h ...... IF2A gain of function mutation

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Erythrocytosis and pulmonary h ...... IF2A gain of function mutation

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JBC.M112.444059

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Journal of Biological Chemistry

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Erythrocytosis and pulmonary h ...... IF2A gain of function mutation

@en

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Heddy Kerestes

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Li Chen

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Melanie J Percy

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Melpo Christofidou-Solomidou

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Qiulin Tan

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Ralph Pietrofesa

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Tejvir S Khurana

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Terence R J Lappin

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P2860

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

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

Hypoxia-inducible factors and the response to hypoxic stress

Novel exon 12 mutations in the HIF2A gene associated with erythrocytosis

A gain-of-function mutation in the HIF2A gene in familial erythrocytosis

Congenital erythropoietin over-expression causes "anti-pulmonary hypertensive" structural and functional changes in mice, both in normoxia and hypoxia

Mutation of von Hippel-Lindau tumour suppressor and human cardiopulmonary physiology

HIF-2alpha regulates murine hematopoietic development in an erythropoietin-dependent manner

Acute postnatal ablation of Hif-2alpha results in anemia

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3682519

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