{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:43:25Z","timestamp":1792428205142,"version":"4.5.0"},"reference-count":33,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2009,5,1]],"date-time":"2009-05-01T00:00:00Z","timestamp":1241136000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,8,22]],"date-time":"2013-08-22T00:00:00Z","timestamp":1377129600000},"content-version":"vor","delay-in-days":1574,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2009,5]]},"DOI":"10.1016\/j.ajhg.2009.04.007","type":"journal-article","created":{"date-parts":[[2009,5,1]],"date-time":"2009-05-01T04:16:52Z","timestamp":1241151412000},"page":"617-627","source":"Crossref","is-referenced-by-count":520,"title":["Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease"],"prefix":"10.1016","volume":"84","author":[{"given":"Dong-Chuan","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina L.","family":"Papke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Van","family":"Tran-Fadulu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ellen S.","family":"Regalado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nili","family":"Avidan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph Jay","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong H.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hariyadarshi","family":"Pannu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia C.","family":"Willing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Sparks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reed E.","family":"Pyeritz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael N.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald L.","family":"Dalman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Grotta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali J.","family":"Marian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Boerwinkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorraine Q.","family":"Frazier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott A.","family":"LeMaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Coselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony L.","family":"Estrera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazim J.","family":"Safi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudha","family":"Veeraraghavan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James T.","family":"Willerson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K.","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay S.","family":"Shete","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven E.","family":"Scherer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.S.","family":"Raman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L. Maximilian","family":"Buja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dianna M.","family":"Milewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2009.04.007_bib1","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1126\/science.1088477","article-title":"Mutation of MEF2A in an inherited disorder with features of coronary artery disease","volume":"302","author":"Wang","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2009.04.007_bib2","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.1126\/science.1136370","article-title":"LRP6 mutation in a family with early coronary disease and metabolic risk factors","volume":"315","author":"Mani","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2009.04.007_bib3","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1097\/01.hco.0000160373.77190.f1","article-title":"Molecular genetics of coronary artery disease","volume":"20","author":"Wang","year":"2005","journal-title":"Curr. Opin. Cardiol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib4","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1056\/NEJM200003093421001","article-title":"Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type","volume":"342","author":"Pepin","year":"2000","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2009.04.007_bib5","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1097\/00125817-200205000-00002","article-title":"Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force","volume":"4","author":"Friedman","year":"2002","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2009.04.007_bib6","doi-asserted-by":"crossref","first-page":"14383","DOI":"10.1016\/S0021-9258(17)42610-X","article-title":"Actin and tropomyosin variants in smooth muscles. Dependence on tissue type","volume":"259","author":"Fatigati","year":"1984","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.04.007_bib7","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1152\/physrev.1995.75.3.487","article-title":"Regulation of differentiation of vascular smooth muscle cells","volume":"75","author":"Owens","year":"1995","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.ajhg.2009.04.007_bib8","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1096\/fj.99-0927com","article-title":"Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse","volume":"14","author":"Schildmeyer","year":"2000","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2009.04.007_bib9","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1167\/iovs.05-1297","article-title":"Deletion of smooth muscle alpha-actin alters blood-retina barrier permeability and retinal function","volume":"47","author":"Tomasek","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"10.1016\/j.ajhg.2009.04.007_bib10","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1038\/ng.2007.6","article-title":"Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections","volume":"39","author":"Guo","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.04.007_bib11","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1161\/CIRCULATIONAHA.105.537340","article-title":"Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections","volume":"112","author":"Pannu","year":"2005","journal-title":"Circulation"},{"key":"10.1016\/j.ajhg.2009.04.007_bib12","doi-asserted-by":"crossref","first-page":"507","DOI":"10.1016\/0002-9149(89)90430-X","article-title":"Two-dimensional echocardiographic aortic root dimensions in normal children and adults","volume":"64","author":"Roman","year":"1989","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib13","doi-asserted-by":"crossref","first-page":"e53","DOI":"10.1371\/journal.pcbi.0010053","article-title":"SNPdetector: A software tool for sensitive and accurate SNP detection","volume":"1","author":"Zhang","year":"2005","journal-title":"PLoS. Comput. Biol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib14","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1161\/01.CIR.103.20.2461","article-title":"Familial thoracic aortic aneurysms and dissections: Genetic heterogeneity with a major locus mapping to 5q13\u201314","volume":"103","author":"Guo","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.ajhg.2009.04.007_bib15","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.04.007_bib16","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1107\/S0108767390010224","article-title":"Improved methods for building protein models in electron density maps and the location of errors in these models","volume":"47","author":"Jones","year":"1991","journal-title":"Acta Crystallogr. A"},{"key":"10.1016\/j.ajhg.2009.04.007_bib17","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1006\/jmbi.1994.1334","article-title":"Satisfying hydrogen bonding potential in proteins","volume":"238","author":"McDonald","year":"1994","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib18","series-title":"The PyMOL User's Manual","author":"Delano","year":"2002"},{"key":"10.1016\/j.ajhg.2009.04.007_bib19","doi-asserted-by":"crossref","first-page":"671","DOI":"10.1016\/j.jtcvs.2005.09.018","article-title":"Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections","volume":"131","author":"He","year":"2006","journal-title":"J. Thorac. Cardiovasc. Surg."},{"key":"10.1016\/j.ajhg.2009.04.007_bib20","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1083\/jcb.122.1.103","article-title":"Transforming growth factor-beta 1 induces alpha-smooth muscle actin expression in granulation tissue myofibroblasts and in quiescent and growing cultured fibroblasts","volume":"122","author":"Desmouliere","year":"1993","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib21","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1016\/S0002-9440(10)65527-7","article-title":"The deletion of transforming growth factor-beta-induced myofibroblasts depends on growth conditions and actin organization","volume":"155","author":"Arora","year":"1999","journal-title":"Am. J. Pathol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib22","doi-asserted-by":"crossref","DOI":"10.1093\/hmg\/ddl183","article-title":"Genetic susceptibility to myocardial infarction and coronary artery disease","volume":"15","author":"Topol","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2009.04.007_bib23","doi-asserted-by":"crossref","first-page":"40193","DOI":"10.1074\/jbc.M602182200","article-title":"Smooth muscle alpha-actin deficiency in\u00a0myofibroblasts leads to enhanced renal tissue fibrosis","volume":"281","author":"Takeji","year":"2006","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.04.007_bib24","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1136\/jnnp.42.3.208","article-title":"Familial occurrence of moya-moya disease: Report of three Japanese families","volume":"42","author":"Kitahara","year":"1979","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.ajhg.2009.04.007_bib25","first-page":"142","article-title":"Long-term outcome in children with moyamoya syndrome after cranial revascularization by pial synangiosis","volume":"100","author":"Scott","year":"2004","journal-title":"J. Neurosurg."},{"issue":"Suppl","key":"10.1016\/j.ajhg.2009.04.007_bib26","doi-asserted-by":"crossref","first-page":"S61","DOI":"10.1046\/j.1440-1789.2000.00300.x","article-title":"Moyamoya disease","volume":"20","author":"Fukui","year":"2000","journal-title":"Neuropathology"},{"key":"10.1016\/j.ajhg.2009.04.007_bib27","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1161\/01.RES.0000259563.61091.e8","article-title":"Myocardin-related transcription factors: Critical coactivators regulating cardiovascular development and adaptation","volume":"100","author":"Parmacek","year":"2007","journal-title":"Circ. Res."},{"key":"10.1016\/j.ajhg.2009.04.007_bib28","doi-asserted-by":"crossref","first-page":"4167","DOI":"10.1091\/mbc.02-05-0068","article-title":"Mutant actins demonstrate a role for unpolymerized actin in control of transcription by serum response factor","volume":"13","author":"Posern","year":"2002","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2009.04.007_bib29","doi-asserted-by":"crossref","first-page":"4134","DOI":"10.1128\/MCB.01902-05","article-title":"MAL and ternary complex factor use different mechanisms to contact a common surface on the serum response factor DNA-binding domain","volume":"26","author":"Zaromytidou","year":"2006","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib30","series-title":"Cardiovascular Solid Mechanics: Cells, Tissues, and Organs","author":"Humphrey","year":"2002"},{"key":"10.1016\/j.ajhg.2009.04.007_bib31","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/S1050-1738(03)00065-3","article-title":"New insights into elastin and vascular disease","volume":"13","author":"Brooke","year":"2003","journal-title":"Trends Cardiovasc. Med."},{"key":"10.1016\/j.ajhg.2009.04.007_bib32","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1006\/dbio.1996.0229","article-title":"Smooth muscle lineage diversity in the chick embryo. Two types of aortic smooth muscle cell differ in growth and receptor-mediated transcriptional responses to transforming growth factor-beta 3","volume":"178","author":"Topouzis","year":"1996","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2009.04.007_bib33","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/ng.72","article-title":"The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm","volume":"40","author":"Helgadottir","year":"2008","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929709001499?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929709001499?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T14:57:25Z","timestamp":1633359445000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929709001499"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5]]},"references-count":33,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2009,5]]}},"alternative-id":["S0002929709001499"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2009.04.007","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1161381.621900","asserted-by":"object"}]},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2009,5]]}}}