{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T12:30:54Z","timestamp":1791203454561,"version":"4.2.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2008,3,1]],"date-time":"2008-03-01T00:00:00Z","timestamp":1204329600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Heart Vessels"],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1007\/s00380-007-1027-4","type":"journal-article","created":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T19:20:39Z","timestamp":1207250439000},"page":"144-148","source":"Crossref","is-referenced-by-count":16,"title":["A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections"],"prefix":"10.1007","volume":"23","author":[{"given":"Seung-Tae","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jee-Ah","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin-Yi","family":"Jang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duk-Kyung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jong-Won","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chang-Seok","family":"Ki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2008,4,4]]},"reference":[{"key":"1027_CR1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/j.1749-6632.1996.tb33297.x","volume":"800","author":"A. Verloes","year":"1996","unstructured":"Verloes A, Sakalihasan N, Limet R, Koulischer L (1996) Genetic aspects of abdominal aortic aneurysm. Ann NY Acad Sci 800: 44\u201355","journal-title":"Ann NY Acad Sci"},{"key":"1027_CR2","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s00380-006-0943-z","volume":"22","author":"A. Sakuta","year":"2007","unstructured":"Sakuta A, Kimura F, Aoka Y, Aomi S, Hagiwara N, Kasanuki H (2007) Delayed enhancement on computed tomography in abdominal aortic aneurysm wall. Heart Vessels 22:79\u201387","journal-title":"Heart Vessels"},{"key":"1027_CR3","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1007\/s00380-005-0895-8","volume":"21","author":"H. Hayashi","year":"2006","unstructured":"Hayashi H, Hidaka F, Kumazaki T, Ochi M (2006) Serial assessment of the development of inflammatory abdominal aortic aneurysm from ordinary atherosclerotic abdominal aortic aneurysm using multidetector-row computed tomographic angiography. Heart Vessels 21:334\u2013337","journal-title":"Heart Vessels"},{"key":"1027_CR4","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/0741-5214(89)90283-8","volume":"10","author":"R.C. Darling 3rd","year":"1989","unstructured":"Darling RC 3rd, Brewster DC, Darling RC, LaMuraglia GM, Moncure AC, Cambria RP, Abbott WM (1989) Are familial abdominal aortic aneurysms different? J Vasc Surg 10:39\u201343","journal-title":"J Vasc Surg"},{"key":"1027_CR5","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1056\/NEJM200003093421001","volume":"342","author":"M. Pepin","year":"2000","unstructured":"Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342:673\u2013680","journal-title":"N Engl J Med"},{"key":"1027_CR6","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","volume":"77","author":"P. Beighton","year":"1998","unstructured":"Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ (1998) Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31\u201337","journal-title":"Am J Med Genet"},{"key":"1027_CR7","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1056\/NEJM200103223441206","volume":"344","author":"W.I. Schievink","year":"2001","unstructured":"Schievink WI (2001) Spontaneous dissection of the carotid and vertebral arteries. N Engl J Med 344:898\u2013906","journal-title":"N Engl J Med"},{"key":"1027_CR8","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1212\/WNL.57.1.24","volume":"57","author":"T. Brandt","year":"2001","unstructured":"Brandt T, Orberk E, Weber R, Werner I, Busse O, Muller BT, Wigger F, Grau A, Grond-Ginsbach C, Hausser I (2001) Pathogenesis of cervical artery dissections: association with connective tissue abnormalities. Neurology 57:24\u201330","journal-title":"Neurology"},{"key":"1027_CR9","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1212\/01.WNL.0000142970.09454.30","volume":"63","author":"D. Ulbricht","year":"2004","unstructured":"Ulbricht D, Diederich NJ, Hermanns-Le T, Metz RJ, Macian F, Pierard GE (2004) Cervical aartery dissection: an atypical presentation with Ehlers-Danlos-like collagen pathology? Neurology 63:1708\u20131710","journal-title":"Neurology"},{"key":"1027_CR10","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1002\/ana.410440224","volume":"44","author":"T. Brandt","year":"1998","unstructured":"Brandt T, Hausser I, Orberk E, Grau A, Hartschuh W, Anton-Lamprecht I, Hacke W (1998) Ultrastructural connective tissue abnormalities in patients with spontaneous cervicocerebral artery dissections. Ann Neurol 44:281\u2013285","journal-title":"Ann Neurol"},{"key":"1027_CR11","doi-asserted-by":"crossref","first-page":"1166","DOI":"10.1212\/WNL.50.4.1166","volume":"50","author":"W.I. Schievink","year":"1998","unstructured":"Schievink WI, Wijdicks EF, Michels VV, Vockley J, Godfrey M (1998) Heritable connective tissue disorders in cervical artery dissections: a prospective study. Neurology 50:1166\u20131169","journal-title":"Neurology"},{"key":"1027_CR12","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1161\/01.STR.27.4.622","volume":"27","author":"W.I. Schievink","year":"1996","unstructured":"Schievink WI, Mokri B, Piepgras DG, Kuiper JD (1996) Recurrent spontaneous arterial dissections: risk in familial versus nonfamilial disease. Stroke 27:622\u2013624","journal-title":"Stroke"},{"key":"1027_CR13","doi-asserted-by":"crossref","unstructured":"Martin JJ, Hausser I, Lyrer P, Busse O, Schwarz R, Schneider R, Brandt T, Kloss M, Schwaninger M, Engelter S, Grond-Ginsbach C (2006) Familial cervical artery dissections. Clinical, morphologic, and genetic studies. Stroke","DOI":"10.1161\/01.STR.0000248916.52976.49"},{"key":"1027_CR14","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1172\/JCI114863","volume":"86","author":"S. Kontusaari","year":"1990","unstructured":"Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ (1990) A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest 86: 1465\u20131473","journal-title":"J Clin Invest"},{"key":"1027_CR15","doi-asserted-by":"crossref","first-page":"2539","DOI":"10.1172\/JCI116490","volume":"91","author":"G. Tromp","year":"1993","unstructured":"Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgard O, Darling RC, Abbott WM, Cole CW, Jaakkola P, Ryynanen M, Pearce WH, Yao JST, Majamaa K, Smullens SN, Gatalica Z, Ferrell RE, Jimenez SA, Jackson CE, Michels VV, Kaye M, Kuivaniemi H (1993) Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triplehelical domain of type III procollagen are an infrequent cause of aortic aneurysms. J Clin Invest 91:2539\u20132545","journal-title":"J Clin Invest"},{"key":"1027_CR16","first-page":"112","volume":"47","author":"S. Kontusaari","year":"1990","unstructured":"Kontusaari S, Tromp G, Kuivaniemi H, Ladda RL, Prockop DJ (1990) Inheritance of an RNA splicing mutation (G+1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV. Am J Hum Genet 47:112\u2013120","journal-title":"Am J Hum Genet"},{"key":"1027_CR17","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1034\/j.1399-0004.2000.580404.x","volume":"58","author":"P.H. Byers","year":"2000","unstructured":"Byers PH (2000) Collagens: building blocks at the end of the development line. Clin Genet 58:270\u2013279","journal-title":"Clin Genet"},{"key":"1027_CR18","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1183\/09031936.02.00219202","volume":"19","author":"A. Watanabe","year":"2002","unstructured":"Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, Shinkai H, Sakai N, Shimada T, Hiroshima K, Kuriyama T (2002) Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J 19:195\u2013198","journal-title":"Eur Respir J"},{"key":"1027_CR19","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1055\/s-0038-1650281","volume":"75","author":"A. Paepe de","year":"1996","unstructured":"de Paepe A (1996) The Ehlers-Danlos syndrome: a heritable collagen disorder as cause of bleeding. Thromb Haemost 75:379\u2013386","journal-title":"Thromb Haemost"},{"key":"1027_CR20","first-page":"650","volume":"95","author":"O. Norrgard","year":"1984","unstructured":"Norrgard O, Rais O, Angquist KA (1984) Familial occurrence of abdominal aortic aneurysms. Surgery 95:650\u2013656","journal-title":"Surgery"},{"key":"1027_CR21","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1002\/bjs.1800760620","volume":"76","author":"H. Bengtsson","year":"1989","unstructured":"Bengtsson H, Norrgard O, Angquist KA, Ekberg O, Oberg L, Bergqvist D (1989) Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms. Br J Surg 76:589\u2013591","journal-title":"Br J Surg"},{"key":"1027_CR22","first-page":"164","volume":"48","author":"P.P. Majumder","year":"1991","unstructured":"Majumder PP, St Jean PL, Ferrell RE, Webster MW, Steed DL (1991) On the inheritance of abdominal aortic aneurysm. Am J Hum Genet 48:164\u2013170","journal-title":"Am J Hum Genet"},{"key":"1027_CR23","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1007\/s00415-002-0745-x","volume":"249","author":"F. Pein von","year":"2002","unstructured":"von Pein F, Valkkila M, Schwarz R, Morcher M, Klima B, Grau A, Ala-Kokko L, Hausser I, Brandt T, Grond-Ginsbach C (2002) Analysis of the COL3A1 gene in patients with spontaneous cervical artery dissections. J Neurol 249:862\u2013866","journal-title":"J Neurol"},{"key":"1027_CR24","first-page":"1329","volume":"116","author":"S.Y. Chan","year":"2003","unstructured":"Chan SY, Chan AK, Cheung BP, Liang Y, Leung MP (2003) Identification of genes expressed during myocardial development. Chin Med J (Engl) 116:1329\u20131332","journal-title":"Chin Med J (Engl)"},{"key":"1027_CR25","doi-asserted-by":"crossref","first-page":"1852","DOI":"10.1073\/pnas.94.5.1852","volume":"94","author":"X. Liu","year":"1997","unstructured":"Liu X, Wu H, Byrne M, Krane S, Jaenisch R (1997) Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development. Proc Natl Acad Sci USA 94:1852\u20131856","journal-title":"Proc Natl Acad Sci USA"},{"key":"1027_CR26","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1007\/BF02049321","volume":"37","author":"T. Berney","year":"1994","unstructured":"Berney T, La Scala G, Vettorel D, Gumowski D, Hauser C, Frileux P, Ambrosetti P, Rohner A (1994) Surgical pitfalls in a patient with type IV Ehlers-Danlos syndrome and spontaneous colonic rupture. Report of a case. Dis Colon Rectum 37:1038\u20131042","journal-title":"Dis Colon Rectum"},{"key":"1027_CR27","first-page":"1559","volume":"29","author":"G. Toma De","year":"2000","unstructured":"De Toma G, Plocco M, Nicolanti V, Cavallaro G, Amato D, Letizia C (2000) Arterial aneurysms associated with cystic hepato-renal disease. Presse Med 29:1559\u20131561","journal-title":"Presse Med"},{"key":"1027_CR28","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1111\/j.1399-0004.1996.tb02724.x","volume":"50","author":"S.B. Dowton","year":"1996","unstructured":"Dowton SB, Pincott S, Demmer L (1996) Respiratory complications of Ehlers-Danlos syndrome type IV. Clin Genet 50:510\u2013514","journal-title":"Clin Genet"}],"container-title":["Heart and Vessels"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00380-007-1027-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00380-007-1027-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00380-007-1027-4","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,3]],"date-time":"2020-05-03T20:14:54Z","timestamp":1588536894000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00380-007-1027-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["1027"],"URL":"https:\/\/doi.org\/10.1007\/s00380-007-1027-4","relation":{},"ISSN":["0910-8327","1615-2573"],"issn-type":[{"value":"0910-8327","type":"print"},{"value":"1615-2573","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}