Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele - Wikidata - awgldk - TriplyDB

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

http://www.wikidata.org/entity/Q37144624

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Molecular pathogenesis of pulmonary arterial hypertension Apelin-APJ signaling: a potential therapeutic target for 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 Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.Heritable forms of pulmonary arterial hypertension.Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.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.Metabolic and hormonal derangements in pulmonary hypertension: from mouse to man.Pulmonary hypertension in women.Pulmonary arterial hypertension: insights from genetic studies.Rescuing the BMPR2 signaling axis in pulmonary arterial hypertension The genetics of pulmonary arterial hypertension in the post-BMPR2 era.Integrative network analysis reveals molecular mechanisms of blood pressure regulation Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8 Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?BMPR2 expression is suppressed by signaling through the estrogen receptor.Connectivity map analysis of nonsense-mediated decay-positive BMPR2-related hereditary pulmonary arterial hypertension provides insights into disease penetrance.Toward Precision Medicine in Pulmonary Arterial Hypertension Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.A molecular mechanism for therapeutic effects of cGMP-elevating agents in pulmonary arterial hypertension.FK506 activates BMPR2, rescues endothelial dysfunction, and reverses pulmonary hypertension.Genetics of pulmonary arterial hypertension.Transcripts from a novel BMPR2 termination mutation escape nonsense mediated decay by downstream translation re-initiation: implications for treating pulmonary hypertension.Signal transduction in the development of pulmonary arterial hypertension Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.Genetics and the molecular pathogenesis of pulmonary arterial hypertension.Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers.Modulation of Endothelial Bone Morphogenetic Protein Receptor Type 2 Activity by Vascular Endothelial Growth Factor Receptor 3 in Pulmonary Arterial Hypertension.The role of genetics in pulmonary arterial hypertension.The first Keystone Symposia Conference on pulmonary vascular isease and right ventricular dysfunction: Current concepts and future therapies.Pulmonary vascular diseases: in search of a hub among the spokes-an exercise in hypothesis generation.Genetics of pulmonary arterial hypertension: do the molecular findings have translational value?Waiting in anticipation: the genetics of pulmonary arterial hypertension.

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Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele

http://www.wikidata.org/entity/Q37144624

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

@tr

scientific article published on April 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

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name

Penetrance of pulmonary arteri ...... ression of normal BMPR2 allele

@en

Penetrance of pulmonary arteri ...... ession of normal BMPR2 allele.

@nl

type

label

Penetrance of pulmonary arteri ...... ression of normal BMPR2 allele

@en

Penetrance of pulmonary arteri ...... ession of normal BMPR2 allele.

@nl

prefLabel

Penetrance of pulmonary arteri ...... ression of normal BMPR2 allele

@en

Penetrance of pulmonary arteri ...... ession of normal BMPR2 allele.

@nl

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Penetrance of pulmonary arteri ...... ression of normal BMPR2 allele

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Eric Austin

http://www.w3.org/2001/XMLSchema#string

James E Loyd

http://www.w3.org/2001/XMLSchema#string

John A Phillips

http://www.w3.org/2001/XMLSchema#string

Joy D Cogan

http://www.w3.org/2001/XMLSchema#string

Lora K Hedges

http://www.w3.org/2001/XMLSchema#string

Rizwan Hamid

http://www.w3.org/2001/XMLSchema#string

P2860

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

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?

A genome-wide association study of global gene expression

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

A genome-wide approach to identify genetic variants that contribute to etoposide-induced cytotoxicity.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

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.

Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems.

P304

649-654

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scholarly article

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10.1002/HUMU.20922

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4

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30

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2009-04-01T00:00:00Z

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23996851

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19206171

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P921

arterial hypertension

P932

2663001

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