Associated Papers
Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.
Jiang DJ et al.
International Journal of Cardiology, 2025
The association between STAT4 polymorphism and pulmonary arterial hypertension in Chinese patients with primary Sjögren's syndrome.
Hui M et al.
Clinical Rheumatology, 2025
Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).
Montani D et al.
American Journal of Respiratory and Critical Care Medicine, 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
Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.
Liang KW et al.
Frontiers in Cardiovascular Medicine, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al.
Clinical Genetics, 2018
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.
Kim MJ et al.
Bmb Reports, 2017
BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.
Ghigna MR et al.
The European Respiratory Journal, 2016
Functional mutations in 5'UTR of the BMPR2 gene identified in Chinese families with pulmonary arterial hypertension.
Wang J et al.
Pulmonary Circulation, 2016
Rise and fall of subclones from diagnosis to relapse in pediatric B-acute lymphoblastic leukaemia.
Ma X et al.
Nature Communications, 2015
Correction of nonsense BMPR2 and SMAD9 mutations by ataluren in pulmonary arterial hypertension.
Drake KM et al.
American Journal of Respiratory Cell and Molecular Biology, 2013
Altered MicroRNA processing in heritable pulmonary arterial hypertension: an important role for Smad-8.
Drake KM et al.
American Journal of Respiratory and Critical Care Medicine, 2011
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Pfarr N et al.
Respiratory Research, 2011
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.
Wang H et al.
Clinical Genetics, 2010
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
Sztrymf B et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Clinical implications of determining BMPR2 mutation status in a large cohort of children and adults with pulmonary arterial hypertension.
Rosenzweig EB et al.
The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.
Koehler R et al.
Journal of Medical Genetics, 2004
Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.
Long L et al.
Pulmonary Circulation, 0