Rare, Non-Synonymous Variant in the Smooth Muscle-Specific Isoform of Myosin Heavy Chain, MYH11, R247C, Alters Force Generation in the Aorta and Phenotype of Smooth Muscle Cells

RATIONALE: Mutations in MYH11 cause autosomal dominant inheritance of thoracic aortic aneurysms and dissections. At the same time, rare, non-synonymous variants in MYH11 that are predicted to disrupt protein function but do not cause inherited aortic disease are common in the general population and...

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Main Authors: Kuang, Shao-Qing, Kwartler, Callie S., Byanova, Katerina L., Pham, John, Gong, Limin, Prakash, Siddharth K., Huang, Jian, Kamm, Kristine E., Stull, James T., Sweeney, H. Lee, Milewicz, Dianna M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3917690/
https://ncbi.nlm.nih.gov/pubmed/22511748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCRESAHA.111.261743
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