Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.W9*
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BMPR2

NM_001204.7:p.W9*

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

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

Human iPSCs as Model Systems for BMP-Related Rare Diseases.

Sánchez-Duffhues G et al.

Cells, 2023

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

Imaging Features in BMPR2 Mutation-associated Pulmonary Arterial Hypertension.

Zhao Q et al.

Radiology, 2023

37191488 (PubMed )
Supplement: ry222488suppa1.pdf

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Michorowska S

Pharmaceuticals (basel, Switzerland), 2021

Autophagy contributes to BMP type 2 receptor degradation and development of pulmonary arterial hypertension.

Gomez-Puerto MC et al.

The Journal of Pathology, 2019

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

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

Kim MJ et al.

Bmb Reports, 2017

Transforming growth factor-β(1) represses bone morphogenetic protein-mediated Smad signaling in pulmonary artery smooth muscle cells via Smad3.

Upton PD et al.

American Journal of Respiratory Cell and Molecular Biology, 2013

Id proteins are critical downstream effectors of BMP signaling in human pulmonary arterial smooth muscle cells.

Yang J et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2013

Sildenafil potentiates bone morphogenetic protein signaling in pulmonary arterial smooth muscle cells and in experimental pulmonary hypertension.

Yang J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

BMPR-II deficiency elicits pro-proliferative and anti-apoptotic responses through the activation of TGFβ-TAK1-MAPK pathways in PAH.

Nasim MT et al.

Human Molecular Genetics, 2012

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients.

Liu D et al.

The European Respiratory Journal, 2012

Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.

Nasim MT et al.

Human Mutation, 2011

Smad-dependent and smad-independent induction of id1 by prostacyclin analogues inhibits proliferation of pulmonary artery smooth muscle cells in vitro and in vivo.

Yang J et al.

Circulation Research, 2010

Evidence of dysfunction of endothelial progenitors in pulmonary arterial hypertension.

Toshner M et al.

American Journal of Respiratory and Critical Care Medicine, 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

Mutations in bone morphogenetic protein type II receptor cause dysregulation of Id gene expression in pulmonary artery smooth muscle cells: implications for familial pulmonary arterial hypertension.

Yang J et al.

Circulation Research, 2008

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD et al.

Human Mutation, 2006

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

Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Long L et al.

Pulmonary Circulation, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."