Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
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Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2Functional changes in pulmonary arterial endothelial cells associated with BMPR2 mutationsNotch3 signaling promotes the development of pulmonary arterial hypertensionBMP4 induces HO-1 via a Smad-independent, p38MAPK-dependent pathway in pulmonary artery myocytesBone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cellsNovel crosstalk to BMP signalling: cGMP-dependent kinase I modulates BMP receptor and Smad activityMolecular pathogenesis of pulmonary arterial hypertensionGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChipDirect signaling by the BMP type II receptor via the cytoskeletal regulator LIMK1Bone morphogenetic proteins, genetics and the pathophysiology of primary pulmonary hypertensionGenomic approaches to research in pulmonary hypertensionGrowth factor signaling in lung morphogenetic centers: automaticity, stereotypy and symmetryGrowth factors in lung development and disease: friends or foe?Anorexigen-induced pulmonary hypertension and the serotonin (5-HT) hypothesis: lessons for the future in pathogenesisDefining the role of essential genes in human diseaseChallenges and Current Efforts in the Development of Biomarkers for Chronic Inflammatory and Remodeling Conditions of the LungsRegulatory RNAs controlling vascular (dys)function by affecting TGF-ß family signallingEndothelial Plasticity: Shifting Phenotypes through Force FeedbackTargeting BMP signalling in cardiovascular disease and anaemiaBMPR2 spruces up the endothelium in pulmonary hypertensionMicroRNAs in respiratory disease. A clinician's overviewBMPs and their clinical potentialsMolecular mechanisms of pulmonary arterial remodelingThe molecular genetics and cellular mechanisms underlying pulmonary arterial hypertensionTGF-β and BMP signaling in osteoblast differentiation and bone formationThe genetics of pulmonary arterial hypertensionTenascin-C in development and disease of blood vesselsPulmonary vascular disease related to hemodynamic stress in the pulmonary circulation.Molecular Mechanisms of Pulmonary Vascular Remodeling in Pulmonary Arterial HypertensionTreatment-related biomarkers in pulmonary hypertensionPulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatricsAntagomiR directed against miR-20a restores functional BMPR2 signalling and prevents vascular remodelling in hypoxia-induced pulmonary hypertensionWhole-exome sequencing reveals TopBP1 as a novel gene in idiopathic pulmonary arterial hypertensionTreprostinil for the treatment of pulmonary arterial hypertensionIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesLinking a serotonin transporter polymorphism to vascular smooth muscle proliferation in patients with primary pulmonary hypertensionSerotonin transporter overexpression is responsible for pulmonary artery smooth muscle hyperplasia in primary pulmonary hypertensionMutations of NOTCH3 in childhood pulmonary arterial hypertensionAbnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertensionBone morphogenetic protein 4 enhances canonical transient receptor potential expression, store-operated Ca2+ entry, and basal [Ca2+]i in rat distal pulmonary arterial smooth muscle cells
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P2860
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
description
im September 2000 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована у вересні 2000
@uk
name
Heterozygous germline mutation ...... primary pulmonary hypertension
@en
Heterozygous germline mutation ...... primary pulmonary hypertension
@nl
type
label
Heterozygous germline mutation ...... primary pulmonary hypertension
@en
Heterozygous germline mutation ...... primary pulmonary hypertension
@nl
prefLabel
Heterozygous germline mutation ...... primary pulmonary hypertension
@en
Heterozygous germline mutation ...... primary pulmonary hypertension
@nl
P2093
P356
P1433
P1476
Heterozygous germline mutation ...... primary pulmonary hypertension
@en
P2093
J A Phillips
J R Thomson
M W Pauciulo
R C Trembath
R D Machado
W C Nichols
P2888
P356
10.1038/79226
P407
P577
2000-09-01T00:00:00Z
P5875
P6179
1018390508