Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease
Guo DC, Papke CL, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. Am J Hum Genet 2009;84:617-27.
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene-phenotype correlations
Nishida T, Faughnan ME, Krings T, et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am J Med Genet A 2012;158A:2829-34.
The potential effect of gender in CYP1A1 and GSTM1 genotype-speci fic associations with pediatric brain tumor
Salnikova LE, Belopolskaya OB, Zelinskaya NI, et al. The potential effect of gender in CYP1A1 and GSTM1 genotype-speci fic associations with pediatric brain tumor. Tumour Biol 2013;34:2709-19.
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations
Munot P, Saunders DE, Milewicz DM, et al. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain 2012;135(Pt 8):2506-14.
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007;39:1488-93.
Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: Evidence for a hyperplastic vasculomyopathy
Milewicz DM, Kwartler CS, Papke CL, et al. Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. Genet Med 2010;12:196-203.
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
Milewicz DM, Østergaard JR, Ala-Kokko LM, et al. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. Am J Med Genet A 2010;152A:2437-43.