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Article

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

BMC pulmonary medicine - 7 Apr 2017

Higasa Koichiro, Ogawa Aiko, Terao Chikashi, Shimizu Masakazu, Kosugi Shinji, Yamada Ryo, Date Hiroshi, Matsubara Hiromi, Matsuda Fumihiko

Abstract excerpt

BACKGROUND: Pulmonary arterial hypertension (PAH) is a severe lung disease with only few effective treatments available. Familial cases of PAH are usually recognized as an autosomal dominant disease, but incomplete penetrance of the disease makes it difficult to identify pathogenic variants in accordance with a Mendelian pattern of inheritance. METHODS: To elucidate the complex genetic basis of PAH, we obtained...

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Topics

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Share to Bone Morphogenetic Protein Receptors, Type II
Share to Familial Primary Pulmonary Hypertension

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Genetic Testing

Share to Nerve Tissue Proteins

Share to Potassium Channels, Tandem Pore Domain

Share to Risk Factors

Source

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Identifiers

PMID: 28388887
DOI: 10.1186/s12890-017-0400-z
PMCID: PMC5383973

Genes

PAH
BMPR2
KCNK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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