Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.R899*
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BMPR2

NM_001204.7:p.R899*

Associated Papers

Molecular mechanisms and therapeutic developments of BMPR2 in pulmonary arterial hypertension.

Chen P et al.

Respiratory Investigation, 2025

Consistent Safety and Efficacy of Sotatercept for Pulmonary Arterial Hypertension in BMPR2 Mutation Carriers and Noncarriers: A Planned Analysis of a Phase II, Double-Blind, Placebo-controlled Clinical Trial (PULSAR).

Montani D et al.

American Journal of Respiratory and Critical Care 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

40229839 (PubMed )
Supplement: 12931_2025_3214_MOESM2_ESM.xlsx › Assessment_

Bone morphogenetic protein signalling in pulmonary arterial hypertension: revisiting the BMPRII connection.

Li W et al.

Biochemical Society Transactions, 2024

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

BMPR2 Mutation and Metabolic Reprogramming in Pulmonary Arterial Hypertension.

Cuthbertson I et al.

Circulation Research, 2023

A potential adverse role for leptin and cardiac leptin receptor in the right ventricle in pulmonary arterial hypertension: effect of metformin is BMPR2 mutation-specific.

Talati M et al.

Frontiers in Medicine, 2023

Schistosomiasis-associated pulmonary hypertension unveils disrupted murine gut-lung microbiome and reduced endoprotective Caveolin-1/BMPR2 expression.

Marinho Y et al.

Frontiers in Immunology, 2023

Impaired Interleukin-15 Signaling via BMPR2 Loss Drives Natural Killer Cell Deficiency and Pulmonary Hypertension.

Hilton LR et al.

Hypertension (dallas, Tex. : 1979), 2022

l-Carnitine therapy improves right heart dysfunction through Cpt1-dependent fatty acid oxidation.

Agrawal V et al.

Pulmonary Circulation, 2022

New Mutations and Pathogenesis of Pulmonary Hypertension: Progress and Puzzles in Disease Pathogenesis.

Aldred MA et al.

Circulation Research, 2022

Central Role of Dendritic Cells in Pulmonary Arterial Hypertension in Human and Mice.

van Uden D et al.

International Journal of Molecular Sciences, 2021

Targeting transforming growth factor-β receptors in pulmonary hypertension.

Guignabert C et al.

The European Respiratory Journal, 2021

Case Report: BMPR2-Targeted MinION Sequencing as a Tool for Genetic Analysis in Patients With Pulmonary Arterial Hypertension.

Takashima T et al.

Frontiers in Cardiovascular Medicine, 2021

Endothelial BMPR2 Loss Drives a Proliferative Response to BMP (Bone Morphogenetic Protein) 9 via Prolonged Canonical Signaling.

Theilmann AL et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

BMPR2 Promoter Variants Effect Gene Expression in Pulmonary Arterial Hypertension Patients.

Song J et al.

Genes, 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

BMPR2 dysfunction impairs insulin signaling and glucose homeostasis in cardiomyocytes.

Hemnes AR et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 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

The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension.

Morikawa M et al.

Science Signaling, 2019

BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.

Chowdhury HM et al.

Human Molecular Genetics, 2019

TGFβ and BMPRII signalling pathways in the pathogenesis of pulmonary arterial hypertension.

Tielemans B et al.

Drug Discovery Today, 2019

A Combined Targeted and Whole Exome Sequencing Approach Identified Novel Candidate Genes Involved in Heritable Pulmonary Arterial Hypertension.

Barozzi C et al.

Scientific Reports, 2019

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

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM1_ESM.xlsx › Suppl._Dataset_1

A novel piperidine identified by stem cell-based screening attenuates pulmonary arterial hypertension by regulating BMP2 and PTGS2 levels.

Xing Y et al.

The European Respiratory Journal, 2018

Bone Morphogenetic Proteins in Vascular Homeostasis and Disease.

Goumans MJ et al.

Cold Spring Harbor Perspectives in Biology, 2018

Loss of SMAD3 Promotes Vascular Remodeling in Pulmonary Arterial Hypertension via MRTF Disinhibition.

Zabini D et al.

American Journal of Respiratory and Critical Care Medicine, 2018

Bone morphogenetic protein signaling is required for RAD51-mediated maintenance of genome integrity in vascular endothelial cells.

Vattulainen-Collanus S et al.

Communications Biology, 2018

Clinical significance linked to functional defects in bone morphogenetic protein type 2 receptor, BMPR2.

Kim MJ et al.

Bmb Reports, 2017

Dysfunctional BMPR2 signaling drives an abnormal endothelial requirement for glutamine in pulmonary arterial hypertension.

Egnatchik RA et al.

Pulmonary Circulation, 2017

Pulmonary extra-medullary hematopoiesis and pulmonary hypertension from underlying polycythemia vera: a case series.

Singh I et al.

Pulmonary Circulation, 2017

TNFα drives pulmonary arterial hypertension by suppressing the BMP type-II receptor and altering NOTCH signalling.

Hurst LA et al.

Nature Communications, 2017

28084316 (PubMed )
Supplement: ncomms14079-s1.pdf

Targeting Vascular Remodeling to Treat Pulmonary Arterial Hypertension.

Thompson AAR et al.

Trends in Molecular Medicine, 2017

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool.

Song J et al.

Clinical Science (london, England : 1979), 2016

Mechanisms of Lipid Accumulation in the Bone Morphogenetic Protein Receptor Type 2 Mutant Right Ventricle.

Talati MH et al.

American Journal of Respiratory and Critical Care Medicine, 2016

Novel signaling pathways in pulmonary arterial hypertension (2015 Grover Conference Series).

Awad KS et al.

Pulmonary Circulation, 2016

Fatty Acid Metabolic Defects and Right Ventricular Lipotoxicity in Human Pulmonary Arterial Hypertension.

Brittain EL et al.

Circulation, 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

Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism.

Chen X et al.

Circulation, 2016

Serotonin 2B Receptor Antagonism Prevents Heritable Pulmonary Arterial Hypertension.

West JD et al.

Plos One, 2016

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

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