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Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts
The most common genetic alterations for familial thoracic aortic aneurysms and dissections (TAAD) are missense mutations in vascular smooth muscle (SM) α-actin encoded by ACTA2. We focus here on ACTA2–R258C, a recurrent mutation associated with early onset of TAAD and occlusive moyamoya-like cerebro...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5514740/ https://ncbi.nlm.nih.gov/pubmed/28652363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1703506114 |
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