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Article

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

American journal of human genetics - 1 Jan 2001

Machado R D, Pauciulo M W, Thomson J R, Lane K B, Morgan N V, Wheeler L, Phillips J A, Newman J, Williams D, Galiè N, Manes A, McNeil K, Yacoub M, Mikhail G, Rogers P, Corris P, Humbert M, Donnai D, Martensson G, Tranebjaerg L, Loyd J E, Trembath R C, Nichols W C

Abstract excerpt

Primary pulmonary hypertension (PPH) is a potentially lethal disorder, because the elevation of the pulmonary arterial pressure may result in right-heart failure. Histologically, the disorder is characterized by proliferation of pulmonary-artery smooth muscle and endothelial cells, by intimal hyperplasia, and by in situ thrombus formation. Heterozygous mutations within the bone morphogenetic protein type II...

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Share to Bone Morphogenetic Protein Receptors, Type II
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11115378
DOI: 10.1086/316947
PMCID: PMC1234937

Genes

BMPR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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