Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

doi:10.1002/humu.20285

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Article

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Human mutation - 1 Feb 2006

Machado Rajiv D, Aldred Micheala A, James Victoria, Harrison Rachel E, Patel Bhakti, Schwalbe Edward C, Gruenig Ekkehard, Janssen Bart, Koehler Rolf, Seeger Werner, Eickelberg Oliver, Olschewski Horst, Elliott C Gregory, Glissmeyer Eric, Carlquist John, Kim Miryoung, Torbicki Adam, Fijalkowska Anna, Szewczyk Grzegorz, Parma Jasmine, Abramowicz Marc J, Galie Nazzareno, Morisaki Hiroko, Kyotani Shingo, Nakanishi Norifumi, Morisaki Takayuki, Humbert Marc, Simonneau Gerald, Sitbon Olivier, Soubrier Florent, Coulet Florence, Morrell Nicholas W, Trembath Richard C

Abstract excerpt

Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality. The disorder is typically sporadic, and in such cases the term idiopathic PAH (IPAH) is used. However, cases that occur within families (familial PAH (FPAH)) display similar clinical and histopathological features, suggesting a common...

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Source

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Identifiers

PMID: 16429395
DOI: 10.1002/humu.20285

Genes

BMPR2
PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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