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
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.
Agnew C et al.
Nature Communications, 2021
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
Chaikuad A et al.
Scientific Reports, 2019
A potential functional association between mutant BMPR2 and primary ovarian insufficiency.
Patiño LC et al.
Systems Biology in Reproductive Medicine, 2017
Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.
Kim MJ et al.
Bmb Reports, 2017
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
John A et al.
Gene, 2015
BMPR1A mutations in juvenile polyposis affect cellular localization.
Howe JR et al.
The Journal of Surgical Research, 2013
Abnormal trafficking of endogenously expressed BMPR2 mutant allelic products in patients with heritable pulmonary arterial hypertension.
Frump AL et al.
Plos One, 2013
[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
Failure of bone morphogenetic protein receptor trafficking in pulmonary arterial hypertension: potential for rescue.
Sobolewski A et al.
Human Molecular Genetics, 2008
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
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
From developmental disorder to heritable cancer: it's all in the BMP/TGF-beta family.
Waite KA et al.
Nature Reviews. Genetics, 2003
BMPR2 germline mutations in pulmonary hypertension associated with fenfluramine derivatives.
Humbert M et al.
The European Respiratory Journal, 2002
Functional analysis of bone morphogenetic protein type II receptor mutations underlying primary pulmonary hypertension.
Rudarakanchana N et al.
Human Molecular Genetics, 2002
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