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Article

Mutation in BMPR2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension?

PloS one - 1 Jan 2015

Viales Rebecca Rodríguez, Eichstaedt Christina A, Ehlken Nicola, Fischer Christine, Lichtblau Mona, Grünig Ekkehard, Hinderhofer Katrin

Abstract excerpt

BACKGROUND: Hereditary pulmonary arterial hypertension (HPAH) can be caused by autosomal dominant inherited mutations of TGF-β genes, such as the bone morphogenetic protein receptor 2 (BMPR2) and Endoglin (ENG) gene. Additional modifier genes may play a role in disease manifestation and severity. In this study we prospectively assessed two families with known BMPR2 or ENG mutations clinically and genetically and...

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Topics

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Cardiac Catheterization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Echocardiography, Doppler

Share to ENG gene

Share to Hypertension, Pulmonary

Share to Mutation

Share to Pedigree

Share to Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 26167679
DOI: 10.1371/journal.pone.0133042
PMCID: PMC4500409

Genes

BMPR2
ENG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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