Associated Papers
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
40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.
Gräf S et al.
Nature Communications, 2018
A potential functional association between mutant BMPR2 and primary ovarian insufficiency.
Patiño LC et al.
Systems Biology in Reproductive Medicine, 2017
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
Chida A et al.
The American Journal of Cardiology, 2012
Genetics and genomics of pulmonary arterial hypertension.
Machado RD et al.
Journal of the American College of Cardiology, 2009
Implications of mutations of activin receptor-like kinase 1 gene (ALK1) in addition to bone morphogenetic protein receptor II gene (BMPR2) in children with pulmonary arterial hypertension.
Fujiwara M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
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
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