Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections

By Dong-chuan Guo, H. Pannu, V. Tran‐Fadulu, Christina L. Papke, Robert Yu, N. Avidan, Scott Bourgeois, A. Estrera, H. Safi, E. Sparks and 15 more. Nature Genetics, 2007

805 citations recorded by the source corpus.

Subfields: Cardiology and Cardiovascular Medicine, Genetics, Pulmonary and Respiratory Medicine

View Paper: https://www.semanticscholar.org/paper/f75c8d902e3cb3fdb23ef10f6a0aacdfd7fb97b7

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Citations in the corpus

• Reproductive ecology of Drosophila (2008, background): “…are rapidly activated by microbes in the Drosophila larval gut (Bischoff et al. 2006; Senger, Harris & Levine 2006), and that immunity genes have been found to experience rapid turnover and positive selection in the 12 Drosophila species sequenced to date (Clark et al. 2007; Sackton et al. 2007).”
• The revised Ghent nosology for the Marfan syndrome (2010, background): “Mutations in ACTA2, accounting for up to 16% of FTAAD, associate aortic aneurysm with other variable features including iris flocculi, livedo reticularis, cerebral aneurysm, BAV and PDA.(47) In addition to thoracic aortic aneurysms and dissections, patients with ACTA2 mutations can present with vasc”