Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome 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
The lncRNA DSCR9 is modulated in pulmonary arterial hypertension endothelial cell models and is associated with alterations in the nitric oxide pathway.
Bernardi N et al.
Vascular Pharmacology, 2025
Deep phenotyping of unaffected carriers of pathogenic BMPR2 variants screened for pulmonary arterial hypertension.
Tóth EN et al.
The European Respiratory Journal, 2024
Development of a 3-Dimensional Model to Study Right Heart Dysfunction in Pulmonary Arterial Hypertension: First Observations.
Llucià-Valldeperas A et al.
Cells, 2021
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
Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.
van den Heuvel LM et al.
Genes, 2020
Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
Chaikuad A et al.
Scientific Reports, 2019
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.
Chowdhury HM et al.
Human Molecular Genetics, 2019
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
Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.
Kim MJ et al.
Bmb Reports, 2017
TNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling.
Hurst LA et al.
Nature Communications, 2017
Bone Morphogenetic Protein Receptor Type 2 Mutation in Pulmonary Arterial Hypertension: A View on the Right Ventricle.
van der Bruggen CE et al.
Circulation, 2016
Defective cellular trafficking of the bone morphogenetic protein receptor type II by mutations underlying familial pulmonary arterial hypertension.
John A et al.
Gene, 2015
Growth differentiation factor 5 is a key physiological regulator of dendrite growth during development.
Osório C et al.
Development (cambridge, England), 2013
Inhibition of overactive transforming growth factor-β signaling by prostacyclin analogs in pulmonary arterial hypertension.
Ogo T et al.
American Journal of Respiratory Cell and Molecular Biology, 2013
Constitutively active ALK2 receptor mutants require type II receptor cooperation.
Bagarova J et al.
Molecular and Cellular Biology, 2013
Trapping of BMP receptors in distinct membrane domains inhibits their function in pulmonary arterial hypertension.
Jiang Y et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2011
[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
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
Regulation of bone morphogenetic protein signalling in human pulmonary vascular development.
Southwood M et al.
The Journal of Pathology, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cells.
Nasim MT et al.
Nucleic Acids Research, 2005
BMP4 inhibits proliferation and promotes myocyte differentiation of lung fibroblasts via Smad1 and JNK pathways.
Jeffery TK et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2005
Novel insertional mutation in the bone morphogenetic protein receptor type II associated with sporadic primary pulmonary hypertension.
Sugiyama S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2004
Functional interaction between BMPR-II and Tctex-1, a light chain of Dynein, is isoform-specific and disrupted by mutations underlying primary pulmonary hypertension.
Machado RD et al.
Human Molecular Genetics, 2003
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
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
Lane KB et al.
Nature Genetics, 2000
Expression of mutant BMPR-II in pulmonary endothelial cells promotes apoptosis and a release of factors that stimulate proliferation of pulmonary arterial smooth muscle cells.
Yang X et al.
Pulmonary Circulation, 0