Published in Nat Genet on November 11, 2007
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Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet (2010) 2.67
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Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome. BMC Med Genet (2014) 0.98
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MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. Am J Hum Genet (2014) 0.97
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MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet (2014) 0.96
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Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification. BMC Med Genet (2011) 0.88
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. Proc Natl Acad Sci U S A (2015) 0.87
Myocardin is required for maintenance of vascular and visceral smooth muscle homeostasis during postnatal development. Proc Natl Acad Sci U S A (2015) 0.87
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Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. J Biol Chem (2012) 0.87
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Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome. Hum Mutat (2013) 0.86
TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. Circ Cardiovasc Genet (2012) 0.86
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. Circ Cardiovasc Genet (2015) 0.85
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Mutations in myosin light chain kinase cause familial aortic dissections. Am J Hum Genet (2010) 2.67
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Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
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) 2.50
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet (2012) 2.50
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