Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia - Test2 - elhamkhani - TriplyDB

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

http://www.wikidata.org/entity/Q24302138

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Bone morphogenetic protein (BMP) and activin type II receptors balance BMP9 signals mediated by activin receptor-like kinase-1 in human pulmonary artery endothelial cells Molecular pathogenesis of pulmonary arterial hypertension Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease Upregulated genes in sporadic, idiopathic pulmonary arterial hypertension.Targeting BMP signalling in cardiovascular disease and anaemia The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension The genetics of pulmonary arterial hypertension Pulmonary arterial hypertension: a comparison between children and adults Pulmonary arterial hypertension associated with congenital heart disease and Eisenmenger syndrome: current practice in pediatrics Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis Mutations of NOTCH3 in childhood pulmonary arterial hypertension Hypoxia induces alteration of bone morphogenetic protein receptor signaling in pulmonary artery endothelial cell ALK5- and TGFBR2-independent role of ALK1 in the pathogenesis of hereditary hemorrhagic telangiectasia type 2 Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension World Health Organization Group I Pulmonary Hypertension: Epidemiology and Pathophysiology.Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia Pulmonary arterial hypertension: the clinical syndrome.Applications of small molecule BMP inhibitors in physiology and disease.ANG-1 TIE-2 and BMPR signalling defects are not seen in the nitrofen model of pulmonary hypertension and congenital diaphragmatic hernia.Pulmonary hypertension: diagnosis and management Endoglin and activin receptor-like-kinase 1 are co-expressed in the distal vessels of the lung: implications for two familial vascular dysplasias, HHT and PAH.Three novel BMPR2 mutations associated with advanced pulmonary arterial hypertension Endothelial follistatin-like-1 regulates the postnatal development of the pulmonary vasculature by modulating BMP/Smad signaling.Heritable forms of pulmonary arterial hypertension.Transforming growth factor-β inhibition attenuates pulmonary arterial hypertension in rats.Regulation of bone morphogenetic protein 9 (BMP9) by redox-dependent proteolysis.Bone Morphogenetic Protein (BMP) signaling in development and human diseases Strategic plan for lung vascular research: An NHLBI-ORDR Workshop Report.The economic burden of pulmonary arterial hypertension (PAH) in the US on payers and patients.Neonatal hyperoxia causes pulmonary vascular disease and shortens life span in aging mice Disruption of PPARγ/β-catenin-mediated regulation of apelin impairs BMP-induced mouse and human pulmonary arterial EC survival Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.Estrogen exposure, obesity and thyroid disease in women with severe pulmonary hypertension.Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway Role of the TGF-beta/Alk5 signaling pathway in monocrotaline-induced pulmonary hypertension.Transforming growth factor-β inhibition and endothelin receptor blockade in rats with monocrotaline-induced pulmonary hypertension.Mutations of TGFbeta signaling molecules in human disease.

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Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia

http://www.wikidata.org/entity/Q24302138

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2003 nî lūn-bûn

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2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

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Journal of Medical Genetics

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Molecular and functional analy ...... ry haemorrhagic telangiectasia

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A Räisänen-Sokolowski

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C G Elliott

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E Gruenig

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F Kermeen

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I M Robbins

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M Sankelo

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R E Harrison

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P2860

Endoglin is an accessory protein that interacts with the signaling receptor complex of multiple members of the transforming growth factor-beta superfamily

Crystal structure of the cytoplasmic domain of the type I TGF beta receptor in complex with FKBP12

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia

The TGF beta receptor activation process: an inhibitor- to substrate-binding switch

Mechanisms of TGF-beta signaling from cell membrane to the nucleus

Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.

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865-871

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scholarly article

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1040157

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10.1136/JMG.40.12.865

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12

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40

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Richard C Trembath

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Nicholas W Morrell

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2003-12-01T00:00:00Z

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274414333

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14684682

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regulation of blood pressure

arterial hypertension

Activin A receptor like type 1

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1735342

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