Varaico: Literature-Extracted Genetic Variants

Gene:BMPR2
Variant:p.I860delFs
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BMPR2

NM_001204.7:p.I860delFs

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_

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

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

Agrawal V et al.

Pulmonary Circulation, 2022

BMPR2 dysfunction impairs insulin signaling and glucose homeostasis in cardiomyocytes.

Hemnes AR et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2020

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

BMP pathway regulation of and by macrophages.

Talati M et al.

Plos One, 2014

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

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Machado RD

Scientifica, 2012

Oxidative injury is a common consequence of BMPR2 mutations.

Lane KL et al.

Pulmonary Circulation, 2011

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

Relationship of BMPR2 mutations to vasoreactivity in pulmonary arterial hypertension.

Elliott CG et al.

Circulation, 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

Genetic aspects of pulmonary arterial hypertension.

Morse JH et al.

Annals of Medicine, 2001

BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

Machado RD et al.

American Journal of Human Genetics, 2001

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

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.

Lane KB et al.

Nature Genetics, 2000

Metabolomic analysis of bone morphogenetic protein receptor type 2 mutations in human pulmonary endothelium reveals widespread metabolic reprogramming.

Fessel JP et al.

Pulmonary Circulation, 0

Pulmonary vascular effect of insulin in a rodent model of pulmonary arterial hypertension.

Trammell AW et al.

Pulmonary Circulation, 0

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