Associated Papers
The association between STAT4 polymorphism and pulmonary arterial hypertension in Chinese patients with primary Sjögren's syndrome.
Hui M et al.
Clinical Rheumatology, 2025
The prevalence of pathogenic variants in the BMPR2 gene in patients with the idiopathic pulmonary arterial hypertension in the Russian population: sequencing data and meta-analysis.
Okhrimenko G et al.
Respiratory Research, 2025
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar.
Eichstaedt CA et al.
Human Mutation, 2025
Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar.
Eichstaedt CA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.
Al Tabosh T et al.
Angiogenesis, 2024
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
Zhao Q et al.
Radiology, 2023
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
Chaikuad A et al.
Scientific Reports, 2019
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Yang H et al.
Respiratory Research, 2018
BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.
Ghigna MR et al.
The European Respiratory Journal, 2016
BMPRII influences the response of pulmonary microvascular endothelial cells to inflammatory mediators.
Vengethasamy L et al.
Pflugers Archiv : European Journal of Physiology, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
A Semiconductor Chip-Based Next Generation Sequencing Procedure for the Main Pulmonary Hypertension Genes.
Gómez J et al.
Lung, 2015
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
John A et al.
Gene, 2015
Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension.
Dewachter L et al.
The European Respiratory Journal, 2009
[Bone morphogenetic protein type II receptor gene promoter mutation-142G > A in a patient with familial pulmonary arterial hypertension].
Li W et al.
Zhonghua Yi Xue Za Zhi, 2009
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
Sztrymf B et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006