Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension. - Wikidata - awgldk - TriplyDB

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

http://www.wikidata.org/entity/Q37389602

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Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutations A Survey of Strategies to Modulate the Bone Morphogenetic Protein Signaling Pathway: Current and Future Perspectives Pathobiology of pulmonary arterial hypertension and right ventricular failure The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension The genetics of pulmonary arterial hypertension Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension BMPR2 mutations and survival in pulmonary arterial hypertension: an individual participant data meta-analysis Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.A novel BMPR2 mutation associated with pulmonary arterial hypertension in an octogenarian.Deletion of the sequence encoding the tail domain of the bone morphogenetic protein type 2 receptor reveals a bone morphogenetic protein 7-specific gain of function Pulmonary arterial hypertension: insights from genetic studies.Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.A potential role for insulin resistance in experimental pulmonary hypertension Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Genotype-phenotype effects of Bmpr2 mutations on disease severity in mouse models of pulmonary hypertension.An evidence-based knowledgebase of pulmonary arterial hypertension to identify genes and pathways relevant to pathogenesis.Gene therapy for pulmonary hypertension: prospects and challenges.Developing treatments for pulmonary arterial hypertension Genetics and the molecular pathogenesis of pulmonary arterial hypertension.The genetic basis of pulmonary arterial hypertension.Oxidative injury is a common consequence of BMPR2 mutations.Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.Restoring BMPRII functions in pulmonary arterial hypertension: opportunities, challenges and limitations.Disruption of lineage specification in adult pulmonary mesenchymal progenitor cells promotes microvascular dysfunction Genetics of pulmonary arterial hypertension: do the molecular findings have translational value?Association of a novel point mutation in MSH2 gene with familial multiple primary cancers.BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series).Pulmonary Arterial Hypertension: Pathophysiology and Treatment.Consequences of BMPR2 Deficiency in the Pulmonary Vasculature and Beyond: Contributions to Pulmonary Arterial Hypertension

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P2860

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.

http://www.wikidata.org/entity/Q37389602

description

article científic

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article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on 28 September 2009

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@en

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@nl

type

label

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@en

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@nl

prefLabel

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@en

Truncating and missense BMPR2 ...... lmonary arterial hypertension.

@nl

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1465-9921-10-87

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Respiratory Research

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Truncating and missense BMPR2 ...... lmonary arterial hypertension.

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Chang Yu

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Charles A Phillips

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Eric D Austin

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Ivan M Robbins

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James E Loyd

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John A Phillips

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Joy D Cogan

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Krista C Stanton

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Lisa A Wheeler

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Rizwan Hamid

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P2860

Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension

Clinical classification of pulmonary hypertension.

Primary pulmonary hypertension. A national prospective study.

Pulmonary arterial hypertension in France: results from a national registry.

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.

Long-term response to calcium channel blockers in idiopathic pulmonary arterial hypertension.

Treatment of pulmonary arterial hypertension.

Rescue of pituitary function in a mouse model of isolated growth hormone deficiency type II by RNA interference.

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10.1186/1465-9921-10-87

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19785764

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arterial hypertension

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2762975

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