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Article

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

Genes - 6 Oct 2020

Song Jie, Hinderhofer Katrin, Kaufmann Lilian T, Benjamin Nicola, Fischer Christine, Grünig Ekkehard, Eichstaedt Christina A

Abstract excerpt

Pathogenic variants have been identified in 85% of heritable pulmonary arterial hypertension (PAH) patients. These variants were mainly located in the bone morphogenetic protein receptor 2 (BMPR2) gene. However, the penetrance of BMPR2 variants was reduced leading to a disease manifestation in only 30% of carriers. In these PAH patients, further modifiers such as additional pathogenic BMPR2 promoter variants...

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Gene Expression Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Share to Promoter Regions, Genetic

Share to Pulmonary Arterial Hypertension

Source

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Identifiers

PMID: 33036198
DOI: 10.3390/genes11101168
PMCID: PMC7601247

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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