Associated Papers
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
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
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
Zhao Q et al.
Radiology, 2023
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.
Agnew C et al.
Nature Communications, 2021
Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.
Montani D et al.
The European Respiratory Journal, 2021
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
Chaikuad A et al.
Scientific Reports, 2019
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.
Puigdevall P et al.
Journal of Medical Genetics, 2019
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu H et al.
Molecular Medicine Reports, 2019
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
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
Vattulainen S et al.
Molecular Genetics & Genomic Medicine, 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
Hemodynamic and genetic analysis in children with idiopathic, heritable, and congenital heart disease associated pulmonary arterial hypertension.
Pfarr N et al.
Respiratory Research, 2013
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
Chida A et al.
The American Journal of Cardiology, 2012
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation.
Frydman N et al.
The European Respiratory Journal, 2012
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Liu D et al.
The European Respiratory Journal, 2012
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Pfarr N et al.
Respiratory Research, 2011
[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].
Portillo K et al.
Archivos De Bronconeumologia, 2010
Genetics and genomics of pulmonary arterial hypertension.
Machado RD et al.
Journal of the American College of Cardiology, 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
Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension.
Nasim MT et al.
Human Molecular Genetics, 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
Evolutionary conservation and mutational spectrum of BMPR2 gene.
Wong WK et al.
Gene, 2006
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.
Sankelo M et al.
Human Mutation, 2005
Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension.
Yang X et al.
Circulation Research, 2005
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.
Machado RD et al.
Circulation, 2005
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.
Rudarakanchana N et al.
Human Molecular Genetics, 2002
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD et al.
American Journal of Human Genetics, 2001
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
Deng Z et al.
American Journal of Human Genetics, 2000
Clinical characteristics and prognosis analysis of idiopathic and hereditary pulmonary hypertension patients with ACVRL1 gene mutations.
Zhang X et al.
Pulmonary Circulation, 0