Associated Papers
Whole exome sequencing unravels genetic architecture and its clinical implications in pediatric pulmonary arterial hypertension.
Jiang DJ et al.
International Journal of Cardiology, 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
Human iPSCs as Model Systems for BMP-Related Rare Diseases.
Sánchez-Duffhues G et al.
Cells, 2023
Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.
Zhao Q et al.
Radiology, 2023
Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.
Agnew C et al.
Nature Communications, 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
Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.
Castaño JAT et al.
Genes, 2020
Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate L et al.
Nature Reviews. Cardiology, 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
Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.
Chaikuad A et al.
Scientific Reports, 2019
Widening the landscape of heritable pulmonary hypertension mutations in paediatric and adult cases.
Eyries M et al.
The European Respiratory Journal, 2019
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
Abbasi Y et al.
Molecular Genetics & Genomic Medicine, 2018
Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al.
Clinical Genetics, 2018
Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.
Abou Hassan OK et al.
Bmc Medical 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
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
Higasa K et al.
Bmc Pulmonary Medicine, 2017
Induced Pluripotent Stem Cell Model of Pulmonary Arterial Hypertension Reveals Novel Gene Expression and Patient Specificity.
Sa S et al.
American Journal of Respiratory and Critical Care Medicine, 2017
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.
Best DH et al.
Chest, 2017
BMPR2 mutation status influences bronchial vascular changes in pulmonary arterial hypertension.
Ghigna MR et al.
The European Respiratory Journal, 2016
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
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
Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.
Wang G et al.
International Journal of Cardiology, 2014
Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.
Liu D et al.
The European Respiratory Journal, 2012
Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.
Pfarr N et al.
Respiratory Research, 2011
Identities and frequencies of BMPR2 mutations in Chinese patients with idiopathic pulmonary arterial hypertension.
Wang H et al.
Clinical Genetics, 2010
Bone morphogenetic protein signalling in heritable versus idiopathic pulmonary hypertension.
Dewachter L et al.
The European Respiratory Journal, 2009
[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
Clinical outcomes of pulmonary arterial hypertension in carriers of BMPR2 mutation.
Sztrymf B et al.
American Journal of Respiratory and Critical Care Medicine, 2008
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
A novel mutation in the BMPR2 gene in familial pulmonary arterial hypertension.
Fu LJ et al.
Chinese Medical Journal, 2008
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
Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension.
Wong WK et al.
American Journal of Respiratory Cell and Molecular Biology, 2005
Dysfunctional Smad signaling contributes to abnormal smooth muscle cell proliferation in familial pulmonary arterial hypertension.
Yang X et al.
Circulation Research, 2005
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
Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension.
Koehler R et al.
Journal of Medical Genetics, 2004
Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary hypertension.
Zhicheng J et al.
Biochemical and Biophysical Research Communications, 2004
Identification of a novel mutation in the gene for bone morphogenetic protein receptor II in an Israeli patient with familial primary pulmonary hypertension.
Cahn A et al.
The Israel Medical Association Journal : Imaj, 2004
[Clinical and genetic characteristics of a Chinese family of primary pulmonary hypertension].
Jing ZC et al.
Zhonghua Yi Xue Za Zhi, 2004
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
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
Deng Z et al.
American Journal of Human Genetics, 2000