Associated Papers
The association between STAT4 polymorphism and pulmonary arterial hypertension in Chinese patients with primary Sjögren's syndrome.
Hui M et al.
Clinical Rheumatology, 2025
SOX17 in pulmonary arterial hypertension: from development to clinical phenotype.
Lacoste-Palasset T et al.
European Respiratory Review : an Official Journal of the European Respiratory Society, 2025
Altered maturation and activation state of circulating monocytes is associated with their enhanced recruitment in pulmonary arterial hypertension.
Harper RL et al.
Respiratory Research, 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
Human iPSCs as Model Systems for BMP-Related Rare Diseases.
Sánchez-Duffhues G et al.
Cells, 2023
The Role of Bone Morphogenetic Protein Receptor Type 2 (BMPR2) and the Prospects of Utilizing Induced Pluripotent Stem Cells (iPSCs) in Pulmonary Arterial Hypertension Disease Modeling.
Devendran A et al.
Cells, 2022
Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.
Fazal S et al.
Cells, 2021
Targeting transforming growth factor-β receptors in pulmonary hypertension.
Guignabert C et al.
The European Respiratory Journal, 2021
Novel Advances in Modifying BMPR2 Signaling in PAH.
Dannewitz Prosseda S et al.
Genes, 2020
Novel Documentation of Onset and Rapid Advancement of Pulmonary Arterial Hypertension without Symptoms in BMPR2 Mutation Carriers: Cautionary Tales?
Amin EK et al.
American Journal of Respiratory and Critical Care Medicine, 2020
4PBA Restores Signaling of a Cysteine-substituted Mutant BMPR2 Receptor Found in Patients with Pulmonary Arterial Hypertension.
Dunmore BJ et al.
American Journal of Respiratory Cell and Molecular Biology, 2020
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.
Chowdhury HM et al.
Human Molecular Genetics, 2019
Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.
Tao YX et al.
Physiological Reviews, 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
Patient-Specific iPSC-Derived Endothelial Cells Uncover Pathways that Protect against Pulmonary Hypertension in BMPR2 Mutation Carriers.
Gu M et al.
Cell Stem Cell, 2017
MxA Is a Novel Regulator of Endosome-Associated Transcriptional Signaling by Bone Morphogenetic Proteins 4 and 9 (BMP4 and BMP9).
Yuan H et al.
Plos One, 2016
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 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
Identification of a common Wnt-associated genetic signature across multiple cell types in pulmonary arterial hypertension.
West JD et al.
American Journal of Physiology. Cell Physiology, 2014
Subcellular mechanisms in pulmonary arterial hypertension: combinatorial modalities that inhibit anterograde trafficking and cause bone morphogenetic protein receptor type 2 mislocalization.
Yang YM et al.
Pulmonary Circulation, 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
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
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
Oxidative injury is a common consequence of BMPR2 mutations.
Lane KL et al.
Pulmonary Circulation, 2011
Bone morphogenetic protein type II receptor mutations causing protein misfolding in heritable pulmonary arterial hypertension.
Li W et al.
Proceedings of the American Thoracic Society, 2010
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
[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
Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance.
West J et al.
Bmc Medical Genomics, 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
Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension.
Meyrick BO et al.
American Journal of Respiratory and Critical Care Medicine, 2008
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
Machado RD et al.
Human Mutation, 2006
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.
Cogan JD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Mutation in the gene for bone morphogenetic protein receptor II as a cause of primary pulmonary hypertension in a large kindred.
Newman JH et al.
The New England Journal of Medicine, 2001
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
Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.
Long L et al.
Pulmonary Circulation, 0