{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T22:45:29Z","timestamp":1789685129721,"version":"4.0.1"},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T00:00:00Z","timestamp":1635811200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T00:00:00Z","timestamp":1635811200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100014718","name":"Innovative Research Group Project of the National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81660085"],"award-info":[{"award-number":["81660085"]}],"id":[{"id":"10.13039\/100014718","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Construction of key laboratories in Xinjiang Uygur Autonomous Region","award":["2019D04017"],"award-info":[{"award-number":["2019D04017"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mamm Genome"],"published-print":{"date-parts":[[2022,9]]},"DOI":"10.1007\/s00335-021-09929-6","type":"journal-article","created":{"date-parts":[[2021,11,2]],"date-time":"2021-11-02T17:51:20Z","timestamp":1635875480000},"page":"555-563","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Association of gene polymorphisms in MYH11 and TGF-\u03b2 signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection"],"prefix":"10.1007","volume":"33","author":[{"given":"Yafei","family":"Chang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinghua","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peipei","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yitong","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5840-8581","authenticated-orcid":false,"given":"Xiang","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,11,2]]},"reference":[{"key":"9929_CR1","doi-asserted-by":"publisher","first-page":"013","DOI":"10.1055\/s-0038-1639612","volume":"06","author":"B Adam","year":"2018","unstructured":"Adam B, Valentyna K, Bulat Z et al (2018) Genes associated with thoracic aortic aneurysm and dissection, an update and clinical implications. Aorta 06:013\u2013020","journal-title":"Aorta"},{"issue":"2","key":"9929_CR2","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1038\/ejhg.2009.141","volume":"18","author":"AF Baas","year":"2010","unstructured":"Baas AF, Medic J, van\u2019t Slot R et al (2010) Association of the TGF-beta receptor genes with abdominal aortic aneurysm. Eur J Hum Genet 18(2):240\u2013244","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"9929_CR3","doi-asserted-by":"publisher","first-page":"730.e19","DOI":"10.1016\/j.amjmed.2013.01.020","volume":"126","author":"AM Booher","year":"2013","unstructured":"Booher AM, Isselbacher EM, Nienaber CA et al (2013) The IRAD classification system for characterizing survival after aortic dissection. Am J Med 126(8):730.e19\u2013724.e19","journal-title":"Am J Med"},{"issue":"13","key":"9929_CR4","doi-asserted-by":"publisher","first-page":"1432","DOI":"10.1016\/j.jacc.2018.01.064","volume":"71","author":"E Bossone","year":"2018","unstructured":"Bossone E, Gorla R, LaBounty TM et al (2018) Presenting systolic blood pressure and outcomes in patients with acute aortic dissection. J Am Coll Cardiol 71(13):1432\u20131440","journal-title":"J Am Coll Cardiol"},{"key":"9929_CR5","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1016\/j.jvs.2017.04.071","volume":"1","author":"R De Cario","year":"2018","unstructured":"De Cario R, Sticchi E, Lucarini L et al (2018) Role of TGFBR1 and TGFBR2 genetic variants in Marfan syndrome. J Vasc Surg 1:225-233.e5","journal-title":"J Vasc Surg"},{"issue":"17","key":"9929_CR6","doi-asserted-by":"publisher","first-page":"1846","DOI":"10.1161\/CIRCULATIONAHA.117.031264","volume":"137","author":"A Evangelista","year":"2018","unstructured":"Evangelista A, Isselbacher EM, Bossone E et al (2018) Insights from the international registry of acute aortic dissection: a 20-year experience of collaborative clinical research. Circulation 137(17):1846\u20131860","journal-title":"Circulation"},{"issue":"10","key":"9929_CR7","doi-asserted-by":"publisher","first-page":"473","DOI":"10.2478\/pjs-2014-0084","volume":"86","author":"M Feldo","year":"2015","unstructured":"Feldo M, Kocki J, Feldo J et al (2015) CIDE-A gene expression in patients with obesity qualified for endovascular treatment of abdominal aorta aneurysm. Pol Przegl Chir 86(10):473\u2013478","journal-title":"Pol Przegl Chir"},{"key":"9929_CR8","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1161\/CIRCGENETICS.114.000950","volume":"8","author":"R Franken","year":"2015","unstructured":"Franken R, den Hartog AW, Radonic T (2015) Beneficial outcome of losartan therapy depends on type of fbn1 mutation in marfan syndrome. Circ Cardiovasc Genet 8:383\u2013388","journal-title":"Circ Cardiovasc Genet"},{"key":"9929_CR9","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.cellsig.2018.08.019","volume":"52","author":"A Frismantiene","year":"2018","unstructured":"Frismantiene A, Philippova M, Erne P et al (2018) Smooth muscle cell-driven vascular diseases and molecular mechanisms of VSMC plasticity. Cell Signal 52:48\u201364","journal-title":"Cell Signal"},{"issue":"8","key":"9929_CR10","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1038\/s41431-018-0127-1","volume":"26","author":"T Fujiwara","year":"2018","unstructured":"Fujiwara T, Takeda N, Hara H et al (2018) Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys-Dietz syndrome or multiple self-healing squamous epithelioma. Eur J Hum Genet 26(8):1151\u20131158","journal-title":"Eur J Hum Genet"},{"key":"9929_CR11","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.bbrc.2014.10.053","volume":"1","author":"F Gao","year":"2014","unstructured":"Gao F, Chambon P, Offermanns S et al (2014) Disruption of TGF-\u03b2 signaling in smooth muscle cell prevents elastase-induced abdominal aortic aneurysm. Biochem Biophys Res Commun 1:137\u2013143","journal-title":"Biochem Biophys Res Commun"},{"key":"9929_CR12","doi-asserted-by":"publisher","first-page":"e022210","DOI":"10.1101\/cshperspect.a022210","volume":"2","author":"M-J Goumans","year":"2018","unstructured":"Goumans M-J, Ten Dijke P (2018) TGF-\u03b2 signaling in control of cardiovascular function. Cold Spring Harbor Perspect Biol 2:e022210","journal-title":"Cold Spring Harbor Perspect Biol"},{"key":"9929_CR13","first-page":"23","volume":"3","author":"G Haize","year":"2018","unstructured":"Haize G, Maria F, Reyes VM et al (2018) Characterization of carotid smooth muscle cells during phenotypic transition. Cells 3:23\u201325","journal-title":"Cells"},{"issue":"5","key":"9929_CR14","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1038\/ejhg.2012.206","volume":"21","author":"M Harakalova","year":"2013","unstructured":"Harakalova M, van der Smagt J, de Kovel CG et al (2013) Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. Eur J Hum Genet 21(5):487\u2013493","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"9929_CR15","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/j.alcohol.2011.06.005","volume":"45","author":"UV Hip\u00f3lito","year":"2011","unstructured":"Hip\u00f3lito UV, Rocha JT, Martins-Oliveira A et al (2011) Chronic ethanol consumption reduces adrenomedullin-induced relaxation in the isolated rat aorta. Alcohol 45(8):805\u2013814","journal-title":"Alcohol"},{"issue":"20","key":"9929_CR16","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1161\/CIRCULATIONAHA.112.000483","volume":"127","author":"DP Howard","year":"2013","unstructured":"Howard DP, Banerjee A, Fairhead JF et al (2013) Population-based study of incidence and outcome of acute aortic dissection and premorbid risk factor control: 10-year results from the Oxford Vascular Study. Circulation 127(20):2031\u20132037","journal-title":"Circulation"},{"issue":"12","key":"9929_CR17","doi-asserted-by":"publisher","first-page":"2647","DOI":"10.1161\/ATVBAHA.115.306573","volume":"35","author":"JH Hu","year":"2015","unstructured":"Hu JH, Wei H, Jaffe M et al (2015) Postnatal deletion of the Type II transforming growth factor-\u03b2 receptor in smooth muscle cells causes severe aortopathy in mice. Arterioscler Thromb Vasc Biol 35(12):2647\u20132656","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"9929_CR18","doi-asserted-by":"publisher","first-page":"2516","DOI":"10.1161\/CIRCULATIONAHA.116.009762","volume":"133","author":"EM Isselbacher","year":"2016","unstructured":"Isselbacher EM, Lino Cardenas CL, Lindsay ME (2016) Hereditary influence in thoracic aortic aneurysm and dissection. Circulation 133:2516\u20132528","journal-title":"Circulation"},{"key":"9929_CR19","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1016\/j.amjcard.2007.10.039","volume":"101","author":"S Ito","year":"2008","unstructured":"Ito S, Akutsu K, Tamori Y et al (2008) Differences in atherosclerotic profiles between patients with thoracic and abdominal aortic aneurysms. Am J Cardiol 101:696\u2013699","journal-title":"Am J Cardiol"},{"key":"9929_CR20","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1007\/s00439-017-1791-x","volume":"136","author":"AG Jacob","year":"2017","unstructured":"Jacob AG, Smith CWJ (2017) Intron retention as a component of regulated gene expression programs. Hum Genet 136:1043\u20131057","journal-title":"Hum Genet"},{"issue":"6","key":"9929_CR21","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1161\/CIRCGENETICS.116.001485","volume":"9","author":"G Jondeau","year":"2016","unstructured":"Jondeau G, Ropers J, Regalado E et al (2016) International registry of patients carrying TGFBR1 or TGFBR2 mutations, results of the MAC (Montalcino Aortic Consortium). Circ Cardiovasc Genet 9(6):548\u2013558","journal-title":"Circ Cardiovasc Genet"},{"issue":"1","key":"9929_CR22","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1016\/j.cjca.2015.11.004","volume":"32","author":"A Karimi","year":"2016","unstructured":"Karimi A, Milewicz DM (2016) Structure of the elastin-contractile units in the thoracic aorta and how genes that cause thoracic aortic aneurysms and dissections disrupt this structure. Can J Cardiol 32(1):26\u201334","journal-title":"Can J Cardiol"},{"key":"9929_CR23","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1161\/CIRCULATIONAHA.114.015177","volume":"132","author":"JB Kim","year":"2015","unstructured":"Kim JB, Kim K, Lindsay ME et al (2015) Risk of rupture or dissection in descending thoracic aortic aneurysm. Circulation 132:1620\u20131629","journal-title":"Circulation"},{"key":"9929_CR24","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1016\/j.wneu.2020.02.054","volume":"137","author":"A Larson","year":"2020","unstructured":"Larson A, Rinaldo L, Brinjikji W et al (2020) Intracranial vessel stenosis in a young patient with an MYH11 mutation, a case report and review of 2 prior cases. World Neurosurg 137:243\u2013246","journal-title":"World Neurosurg"},{"key":"9929_CR25","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1172\/JCI69942","volume":"2","author":"W Li","year":"2014","unstructured":"Li W, Li Q, Jiao Y et al (2014) Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. J Clin Investig 2:755\u2013767","journal-title":"J Clin Investig"},{"issue":"3","key":"9929_CR26","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng1511","volume":"37","author":"BL Loeys","year":"2005","unstructured":"Loeys BL, Chen J, Neptune ER et al (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 37(3):275\u2013281","journal-title":"Nat Genet"},{"issue":"8","key":"9929_CR27","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1038\/ng1392","volume":"36","author":"T Mizuguchi","year":"2004","unstructured":"Mizuguchi T, Collod-Beroud G, Akiyama T et al (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet 36(8):855\u2013860","journal-title":"Nat Genet"},{"key":"9929_CR28","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1001\/jama.2016.10026","volume":"316","author":"FF Mussa","year":"2016","unstructured":"Mussa FF, Horton JD, Moridzadeh R et al (2016) Acute aortic dissection and intramural hematoma, a systematic review. JAMA 316:754\u2013763","journal-title":"JAMA"},{"key":"9929_CR29","doi-asserted-by":"publisher","first-page":"2125","DOI":"10.3390\/ijms19072125","volume":"19","author":"T Norifumi","year":"2018","unstructured":"Norifumi T, Hironori H, Takayuki F et al (2018) TGF-\u03b2 signaling-related genes and thoracic aortic aneurysms and dissections. Int J of Mol Sci 19:2125","journal-title":"Int J of Mol Sci"},{"issue":"2","key":"9929_CR30","first-page":"19","volume":"26","author":"A Piechota-Polanczyk","year":"2015","unstructured":"Piechota-Polanczyk A, Jozkowicz A, Nowak W et al (2015) The abdominal aortic aneurysm and intraluminal thrombus, current concepts of development and treatment. Front Cardiovasc Med 26(2):19","journal-title":"Front Cardiovasc Med"},{"issue":"4","key":"9929_CR31","doi-asserted-by":"publisher","first-page":"e279","DOI":"10.1016\/j.athoracsur.2019.07.030","volume":"109","author":"L Pucci","year":"2020","unstructured":"Pucci L, Pointet A, Good JM et al (2020) A new variant in the MYH11 gene in a familial case of thoracic aortic aneurysm. Ann Thorac Surg 109(4):e279\u2013e281","journal-title":"Ann Thorac Surg"},{"key":"9929_CR32","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.ijcard.2011.08.079","volume":"2","author":"M Renard","year":"2013","unstructured":"Renard M, Callewaert B, Baetens M et al (2013) Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGF\u03b2 signaling in FTAAD. Int J Cardiol 2:314\u2013321","journal-title":"Int J Cardiol"},{"issue":"8","key":"9929_CR33","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1111\/j.1747-4949.2011.00615.x","volume":"7","author":"YM Ruigrok","year":"2012","unstructured":"Ruigrok YM, Baas AF, Medic J et al (2012) The transforming growth factor-\u03b2 receptor genes and the risk of intracranial aneurysms. Int J Stroke 7(8):645\u2013648","journal-title":"Int J Stroke"},{"key":"9929_CR34","doi-asserted-by":"publisher","first-page":"136","DOI":"10.1016\/j.jjcc.2019.03.014","volume":"2","author":"N Takeda","year":"2019","unstructured":"Takeda N, Komuro I (2019) Genetic basis of hereditary thoracic aortic aneurysms and dissections. J Cardiol 2:136\u2013143","journal-title":"J Cardiol"},{"issue":"2","key":"9929_CR35","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.atherosclerosis.2009.09.073","volume":"209","author":"AR Thompson","year":"2010","unstructured":"Thompson AR, Cooper JA, Jones GT et al (2010) Assessment of the association between genetic polymorphisms in transforming growth factor beta, and its binding protein (LTBP), and the presence, and expansion, of abdominal aortic aneurysm. Atherosclerosis 209(2):367\u2013373","journal-title":"Atherosclerosis"},{"issue":"4","key":"9929_CR36","doi-asserted-by":"publisher","first-page":"1012","DOI":"10.1152\/ajpheart.00329.2018","volume":"315","author":"Y Utako","year":"2018","unstructured":"Utako Y, Noriaki A, Ryo I et al (2018) Proteomic analysis of aortic smooth muscle cell secretions reveals an association of myosin heavy chain 11 with abdominal aortic aneurysm. Am J Physiol Heart Circ Physiol 315(4):1012\u20131018","journal-title":"Am J Physiol Heart Circ Physiol"},{"issue":"14","key":"9929_CR37","doi-asserted-by":"publisher","first-page":"3013","DOI":"10.1113\/JP270033","volume":"593","author":"G Wang","year":"2015","unstructured":"Wang G, Jacquet L, Karamariti E, Xu Q (2015) Origin and differentiation of vascular smooth muscle cells. J Physiol 593(14):3013\u20133030","journal-title":"J Physiol"},{"issue":"5","key":"9929_CR38","doi-asserted-by":"publisher","first-page":"396","DOI":"10.2174\/1389202917666160513102612","volume":"17","author":"HM Xu","year":"2016","unstructured":"Xu HM, Xu LF, Hou TT et al (2016) GMDR, versatile software for detecting gene\u2013gene and gene\u2013environment interactions underlying complex traits. Curr Genom 17(5):396\u2013402","journal-title":"Curr Genom"},{"key":"9929_CR39","doi-asserted-by":"publisher","first-page":"35444","DOI":"10.1038\/srep35444","volume":"6","author":"P Yang","year":"2016","unstructured":"Yang P, Schmit BM, Fu C et al (2016) Smooth muscle cell-specific Tgfbr1 deficiency promotes aortic aneurysm formation by stimulating multiple signaling events. Sci Rep 6:35444","journal-title":"Sci Rep"},{"key":"9929_CR40","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1016\/j.atherosclerosis.2014.10.019","volume":"237","author":"S Yoshiyama","year":"2014","unstructured":"Yoshiyama S, Chen Z, Okagaki T et al (2014) Nicotine exposure alters human vascular smooth muscle cell phenotype from a contractile to a synthetic type. Atherosclerosis 237:464\u2013470","journal-title":"Atherosclerosis"},{"key":"9929_CR41","doi-asserted-by":"publisher","first-page":"6901","DOI":"10.7150\/thno.37357","volume":"9","author":"J Zhu","year":"2019","unstructured":"Zhu J, Liu B, Wang Z et al (2019) Exosomes from nicotine-stimulated macrophages accelerate atherosclerosis through miR-21-3p\/PTEN-mediated VSMC migration and proliferation. Theranostics 9:6901\u20136919","journal-title":"Theranostics"},{"issue":"1","key":"9929_CR42","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1016\/j.ejvs.2015.04.010","volume":"50","author":"S Zuo","year":"2015","unstructured":"Zuo S, Xiong J, Wei Y et al (2015) Potential interactions between genetic polymorphisms of the transforming growth factor-\u03b2 pathway and environmental factors in abdominal aortic aneurysms. Eur J Vasc Endovasc Surg 50(1):71\u201377","journal-title":"Eur J Vasc Endovasc Surg"}],"container-title":["Mammalian Genome"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00335-021-09929-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00335-021-09929-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00335-021-09929-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T20:03:08Z","timestamp":1659988988000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00335-021-09929-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,2]]},"references-count":42,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["9929"],"URL":"https:\/\/doi.org\/10.1007\/s00335-021-09929-6","relation":{},"ISSN":["0938-8990","1432-1777"],"issn-type":[{"value":"0938-8990","type":"print"},{"value":"1432-1777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,2]]},"assertion":[{"value":"19 August 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 November 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors have declared no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}