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
Hemodynamic and Clinical Profiles of Pulmonary Arterial Hypertension Patients with GDF2 and BMPR2 Variants.
Wang MT et al.
International Journal of Molecular Sciences, 2024
A multimodal approach identifies lactate as a central feature of right ventricular failure that is detectable in human plasma.
Hemnes A et al.
Frontiers in Medicine, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
Zhao Q et al.
Radiology, 2023
A potential adverse role for leptin and cardiac leptin receptor in the right ventricle in pulmonary arterial hypertension: effect of metformin is BMPR2 mutation-specific.
Talati M et al.
Frontiers in Medicine, 2023
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
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM et al.
Genes, 2020
BMPR2 dysfunction impairs insulin signaling and glucose homeostasis in cardiomyocytes.
Hemnes AR et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2020
Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort.
Jang AY et al.
Plos One, 2020
Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al.
Clinical Genetics, 2018
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.
Yang H et al.
Respiratory Research, 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
Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.
Talati MH et al.
American Journal of Respiratory and Critical Care Medicine, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.
Vattulainen S et al.
Molecular Genetics & Genomic Medicine, 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
A potential role for insulin resistance in experimental pulmonary hypertension.
West J et al.
The European Respiratory Journal, 2013
Cytoskeletal defects in Bmpr2-associated pulmonary arterial hypertension.
Johnson JA et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2012
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Liu D et al.
The European Respiratory Journal, 2012
The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.
Machado RD
Scientifica, 2012
Oxidative injury is a common consequence of BMPR2 mutations.
Lane KL et al.
Pulmonary Circulation, 2011
BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension.
Talati M et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2010
[Study of the BMPR2 gene in patients with pulmonary arterial hypertension].
Portillo K et al.
Archivos De Bronconeumologia, 2010
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
Receptor for activated C-kinase 1, a novel interaction partner of type II bone morphogenetic protein receptor, regulates smooth muscle cell proliferation in pulmonary arterial hypertension.
Zakrzewicz A et al.
Circulation, 2007
Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.
Elliott CG et al.
Circulation, 2006
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
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.
Machado RD et al.
American Journal of Human Genetics, 2001
Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family.
Thomson JR et al.
Journal of Medical Genetics, 2000
Metabolomic analysis of bone morphogenetic protein receptor type 2 mutations in human pulmonary endothelium reveals widespread metabolic reprogramming.
Fessel JP et al.
Pulmonary Circulation, 0
Pulmonary vascular effect of insulin in a rodent model of pulmonary arterial hypertension.
Trammell AW et al.
Pulmonary Circulation, 0