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Article

Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females.

The European respiratory journal - 1 Nov 2009

Austin E D, Cogan J D, West J D, Hedges L K, Hamid R, Dawson E P, Wheeler L A, Parl F F, Loyd J E, Phillips J A

Abstract excerpt

Mutations in bone morphogenetic protein receptor type 2 (BMPR2) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented. In addition, gene expression data implicating the oestrogen-metabolising enzyme CYP1B1 suggests a detrimental role of oestrogens or oestrogen metabolites. We examined genetic and metabolic markers of altered oestrogen...

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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: 19357154
DOI: 10.1183/09031936.00010409
PMCID: PMC3742124

Genes

BMPR2

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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