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Article

TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections.

Cardiovascular research - 1 Dec 2010

Inamoto Sakiko, Kwartler Callie S, Lafont Andrea L, Liang Yao Yun, Fadulu Van Tran, Duraisamy Senthil, Willing Marcia, Estrera Anthony, Safi Hazim, Hannibal Mark C, Carey John, Wiktorowicz John, Tan Filemon K, Feng Xin-Hua, Pannu Hariyadarshi, Milewicz Dianna M

Abstract excerpt

AIMS: Transforming growth factor-β (TGF-β) signaling is critical for the differentiation of smooth muscle cells (SMCs) into quiescent cells expressing a full repertoire of contractile proteins. Heterozygous mutations in TGF-β receptor type II (TGFBR2) disrupt TGF-β signaling and lead to genetic conditions that predispose to thoracic aortic aneurysms and dissections (TAADs). The aim of this study is to determine...

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Source

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Identifiers

PMID: 20628007
DOI: 10.1093/cvr/cvq230
PMCID: PMC2972687

Genes

TGFBR2

Provenance

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