Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.C347R
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BMPR2

NM_001204.7:p.C347R

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

TGF-β receptor mutations and clinical prognosis in Chinese pediatric patients with idiopathic/hereditary pulmonary arterial hypertension.

Zhang X et al.

Pulmonary Circulation, 2022

35514780 (PubMed )
Supplement: PUL2-12-e12076-s001.pdf

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.

Chaikuad A 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

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

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

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

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

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

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

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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