Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.
about
Erythrocytosis-associated HIF-2alpha mutations demonstrate a critical role for residues C-terminal to the hydroxylacceptor prolineCardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutationNatural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlandersHIF hydroxylase pathways in cardiovascular physiology and medicineDNA Damage and Pulmonary HypertensionNew perspectives on the molecular basis of the interaction between oxygen homeostasis and iron metabolismArchaic inheritance: supporting high-altitude life in TibetHIF prolyl hydroxylase inhibitors for anemiaThe role of PHD2 mutations in the pathogenesis of erythrocytosis.Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Defective Tibetan PHD2 binding to p23 links high altitude adaption to altered oxygen sensingEPAS1 gene variants are associated with sprint/power athletic performance in two cohorts of European athletes.Erythrocytosis associated with a novel missense mutation in the HIF2A gene.Human high-altitude adaptation: forward genetics meets the HIF pathway.The crossroads of iron with hypoxia and cellular metabolism. Implications in the pathobiology of pulmonary hypertension.Contrasting effects of ascorbate and iron on the pulmonary vascular response to hypoxia in humans.The role of inflammation in hypoxic pulmonary hypertension: from cellular mechanisms to clinical phenotypes.Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertensionDistinct deregulation of the hypoxia inducible factor by PHD2 mutants identified in germline DNA of patients with polycythemiaTwo new mutations in the HIF2A gene associated with erythrocytosis.Distinct responses to hypoxia in subpopulations of distal pulmonary artery cells contribute to pulmonary vascular remodeling in emphysema.Using diverse U.S. beef cattle genomes to identify missense mutations in EPAS1, a gene associated with pulmonary hypertension.Deletion of iron regulatory protein 1 causes polycythemia and pulmonary hypertension in mice through translational derepression of HIF2α.The Local HIF-2α/EPO Pathway in the Bone Marrow is Associated with Excessive Erythrocytosis and the Increase in Bone Marrow Microvessel Density in Chronic Mountain Sickness.The Endothelial Prolyl-4-Hydroxylase Domain 2/Hypoxia-Inducible Factor 2 Axis Regulates Pulmonary Artery Pressure in Mice.Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutationProlyl-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.Differential regulation of pulmonary vascular cell growth by hypoxia-inducible transcription factor-1α and hypoxia-inducible transcription factor-2α.Regulation of erythropoiesis by hypoxia-inducible factorsThe increase in pulmonary arterial pressure caused by hypoxia depends on iron status.Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range.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.Pulmonary vascular and ventricular dysfunction in the susceptible patient (2015 Grover Conference series).HIF and pulmonary vascular responses to hypoxia.Human adaptation to the hypoxia of high altitude: the Tibetan paradigm from the pregenomic to the postgenomic era.HIF pathway mutations and erythrocytosis.Inherited predisposition to myeloproliferative neoplasmsHIF prolyl hydroxylase inhibitors for the treatment of renal anaemia and beyond.Hypoxia Inducible Factor-2 Alpha and Prolinhydroxylase 2 Polymorphisms in Patients with Acute Respiratory Distress Syndrome (ARDS).
P2860
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P2860
Autosomal dominant erythrocytosis and pulmonary arterial hypertension associated with an activating HIF2 alpha mutation.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@en
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@nl
type
label
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@en
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@nl
prefLabel
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@en
Autosomal dominant erythrocyto ...... ctivating HIF2 alpha mutation.
@nl
P2093
P1433
P1476
Autosomal dominant erythrocyto ...... activating HIF2 alpha mutation
@en
P2093
Cecil D L Reid
Edward G D Tuddenham
Patrick H Maxwell
Sarah K Harten
P304
P356
10.1182/BLOOD-2008-04-153718
P407
P577
2008-08-01T00:00:00Z