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Article

SMAD5 as a novel gene for familial pulmonary arterial hypertension.

Clinical science (London, England : 1979) - 15 Jan 2025

Cao Ding, Grünig Ekkehard, Sirenko Yuriy, Radchenko Ganna, Gall Henning, Ahmed Ayat, Theiß Susanne, Lankeit Mareike, Meder Benjamin, Laugsch Magdalena, Eichstaedt Christina A

Abstract excerpt

Genetic diagnostic testing of 325 pulmonary arterial hypertension (PAH) patients using a PAH specific gene panel including 18 known PAH genes revealed mutations in 23%. Further PAH candidate genes were sequenced in the remaining patients exposing two SMAD5 variants, which were clinically and functionally characterized. We first recorded familial cosegregation and clinical parameters. Functional tests were...

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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: 39631055
DOI: 10.1042/CS20241340
PMCID: PMC12204011

Genes

PAH
SMAD5

Variants

Provenance

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