{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:40:09Z","timestamp":1777405209455,"version":"3.51.4"},"reference-count":42,"publisher":"Oxford University Press (OUP)","issue":"24","funder":[{"DOI":"10.13039\/501100001809","name":"NSFC","doi-asserted-by":"publisher","award":["91439203"],"award-info":[{"award-number":["91439203"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,12,15]]},"DOI":"10.1093\/hmg\/ddx360","type":"journal-article","created":{"date-parts":[[2017,9,17]],"date-time":"2017-09-17T07:07:17Z","timestamp":1505632037000},"page":"4814-4822","source":"Crossref","is-referenced-by-count":31,"title":["FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection"],"prefix":"10.1093","volume":"26","author":[{"given":"Lun","family":"Tan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zongze","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengming","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianqing","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katherine","family":"Cianflone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dao Wen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,9,18]]},"reference":[{"key":"key\n\t\t\t\t20171201025820_ddx360-B1","first-page":"350","article-title":"Presentation, diagnosis, and outcomes of acute aortic dissection: 17-year trends from the international registry of acute aortic dissection","volume":"66","year":"2015","journal-title":"J. Am. Coll. Cardiol"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B2","doi-asserted-by":"crossref","first-page":"1271","DOI":"10.1378\/chest.117.5.1271","article-title":"Epidemiology and clinicopathology of aortic dissection","volume":"117","year":"2000","journal-title":"Chest"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B3","doi-asserted-by":"crossref","first-page":"2213","DOI":"10.1161\/CIRCULATIONAHA.110.988568","article-title":"Sensitivity of the aortic dissection detection risk score, a novel guideline-based tool for identification of acute aortic dissection at initial presentation: results from the international registry of acute aortic dissection","volume":"123","year":"2011","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B4","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/S0140-6736(08)60994-0","article-title":"Acute aortic dissection","volume":"372","year":"2008","journal-title":"Lancet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B5","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1016\/j.athoracsur.2006.04.098","article-title":"Familial thoracic aortic aneurysms and dissections\u2014incidence, modes of inheritance, and phenotypic patterns","volume":"82","year":"2006","journal-title":"Ann. Thorac. Surg"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B6","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1006\/geno.1994.1110","article-title":"A novel mutation of the fibrillin gene causing ectopia lentis","volume":"19","year":"1994","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B7","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1172\/JCI117930","article-title":"A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome","volume":"95","year":"1995","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B8","first-page":"1287","article-title":"A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection","volume":"56","year":"1995","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B9","doi-asserted-by":"crossref","first-page":"2708","DOI":"10.1161\/01.CIR.94.11.2708","article-title":"Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms","volume":"94","year":"1996","journal-title":"Circulation"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B10","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1038\/ng.934","article-title":"Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1","volume":"43","year":"2011","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B11","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1161\/CIRCRESAHA.113.301498","article-title":"Thoracic aortic aneurysm frequency and dissection are associated with fibrillin-1 fragment concentrations in circulation","volume":"113","year":"2013","journal-title":"Circ. Res"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B12","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1002\/humu.10249","article-title":"Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database","volume":"22","year":"2003","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B13","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1542\/peds.2008-0703","article-title":"Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations","volume":"123","year":"2009","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B14","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/humu.20070","article-title":"Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome","volume":"24","year":"2004","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B15","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1002\/humu.21525","article-title":"Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys\u2013Dietz syndromes","volume":"32","year":"2011","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B16","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1007\/s004399900190","article-title":"Molecular analysis of eight mutations in FBN1","volume":"105","year":"1999","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B17","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1038\/ejhg.2009.36","article-title":"Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene","volume":"17","year":"2009","journal-title":"Eur. J. Hum. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B18","doi-asserted-by":"crossref","first-page":"494.","DOI":"10.1002\/humu.9377","article-title":"Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies","volume":"26","year":"2005","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B19","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1089\/gte.2006.0514","article-title":"Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory","volume":"11","year":"2007","journal-title":"Genet Test"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B20","first-page":"828","article-title":"[Novel mutation of fibrillin 1 gene cause ectopia lentis in a Chinese family]","volume":"40","year":"2004","journal-title":"Zhonghua Yan Ke Za Zhi"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B21","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1007\/s00109-012-0931-y","article-title":"Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections","volume":"91","year":"2013","journal-title":"J. Mol. Med. (Berl.)"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B22","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1002\/ajmg.a.32809","article-title":"Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion","volume":"149A","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B23","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/humu.20239","article-title":"Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype\u2013phenotype correlations in 76 patients with Marfan syndrome","volume":"26","year":"2005","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B24","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1, 013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study","volume":"81","year":"2007","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B25","doi-asserted-by":"crossref","first-page":"251.","DOI":"10.1002\/humu.1181","article-title":"Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome","volume":"18","year":"2001","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B26","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/humu.10113","article-title":"Mutations of FBN1 and genotype\u2013phenotype correlations in Marfan syndrome and related fibrillinopathies","volume":"20","year":"2002","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B27","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1016\/j.athoracsur.2015.04.106","article-title":"Routine genetic testing for thoracic aortic aneurysm and dissection in a clinical setting","volume":"100","year":"2015","journal-title":"Ann. Thorac. Surg"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B28","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/ajmg.a.32593","article-title":"Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype\u2013phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy","volume":"149A","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B29","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","year":"2010","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B30","doi-asserted-by":"crossref","first-page":"2995","DOI":"10.1016\/j.jtcvs.2014.07.068","article-title":"Clinical features of acute aortic dissection from the Registry of Aortic Dissection in China","volume":"148","author":"Registry of Aortic Dissection in China Sino RADI","year":"2014","journal-title":"J. Thorac. Cardiovasc. Surg"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B31","doi-asserted-by":"crossref","first-page":"e0142697.","DOI":"10.1371\/journal.pone.0142697","article-title":"Association between diabetes and risk of aortic dissection: a case\u2013control study in a Chinese population","volume":"10","year":"2015","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B32","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1093\/eurheartj\/ehq258","article-title":"Cardiovascular manifestations in men and women carrying a FBN1 mutation","volume":"31","year":"2010","journal-title":"Eur. Heart J"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B33","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1172\/JCI200420641","article-title":"Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome","volume":"114","year":"2004","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B34","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1006\/geno.1993.1349","article-title":"Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome","volume":"17","year":"1993","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B35","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1038\/nature10145","article-title":"Lessons on the pathogenesis of aneurysm from heritable conditions","volume":"473","year":"2011","journal-title":"Nature"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B36","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1038\/gim.2014.91","article-title":"Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events","volume":"17","year":"2015","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B37","article-title":"Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome","year":"2017","journal-title":"Heart"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B38","doi-asserted-by":"crossref","first-page":"3285","DOI":"10.1093\/eurheartj\/ehv739","article-title":"Genotype impacts survival in Marfan syndrome","volume":"37","year":"2016","journal-title":"Eur. Heart. J"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B39","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s11427-016-0333-3","article-title":"Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection","volume":"60","year":"2017","journal-title":"Sci. China Life Sci"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B40","doi-asserted-by":"crossref","first-page":"173.","DOI":"10.1186\/1479-5876-12-173","article-title":"Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing","volume":"12","year":"2014","journal-title":"J. Transl. Med"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B41","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20171201025820_ddx360-B42","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1093\/biostatistics\/kxs014","article-title":"Optimal tests for rare variant effects in sequencing association studies","volume":"13","year":"2012","journal-title":"Biostatistics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/24\/4814\/22092686\/ddx360.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T02:58:40Z","timestamp":1512097120000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/26\/24\/4814\/4160820"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,9,18]]},"references-count":42,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2017,9,18]]},"published-print":{"date-parts":[[2017,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx360","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,12,15]]},"published":{"date-parts":[[2017,9,18]]}}}