Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus

By Li-min Zhu, R. Vranckx, P. Kien, Alain Lalande, N. Boisset, Flavie Mathieu, M. Wegman, L. Glancy, J. Gasc, François Brunotte and 4 more. Nature Genetics, 2006

615 citations recorded by the source corpus.

Subfields: Epidemiology, Pulmonary and Respiratory Medicine, Surgery

View Paper: https://www.semanticscholar.org/paper/cd4dde6acf6b8be1153af430d692d788fe0a2854

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In Epidemiology

1. A. De Paepe
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Citations in the corpus

• The revised Ghent nosology for the Marfan syndrome (2010, background): “Mutations inMYH11 associate aortic root aneurysms with patent ductus arteriosus (PDA).(46) 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.”
• Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections (2007, background): “These data, along with the previously reported MYH11 mutations causing familial TAA”
• Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease (2010, background): “The defective gene at this locus was identified as the smooth muscle cell–specific myosin heavy chain 11 (MYH11), a major protein in the contractile unit in smooth muscle cells (77).”