{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T14:17:56Z","timestamp":1789222676795,"version":"build-2803163510"},"reference-count":25,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,3,1]],"date-time":"2018-03-01T00:00:00Z","timestamp":1519862400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370394"],"award-info":[{"award-number":["81370394"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002822","name":"Central South University","doi-asserted-by":"publisher","award":["CSUZC201737"],"award-info":[{"award-number":["CSUZC201737"]}],"id":[{"id":"10.13039\/501100002822","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2018,3]]},"DOI":"10.1016\/j.gene.2018.01.055","type":"journal-article","created":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T21:02:50Z","timestamp":1516395770000},"page":"63-67","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":27,"special_numbering":"C","title":["Whole exome sequencing identifies a novel mutation (c.333\u202f+\u202f2T\u202f>\u202fC) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease"],"prefix":"10.1016","volume":"648","author":[{"given":"Liang-Liang","family":"Fan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie-Yuan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing-Jing","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya-Qin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shui-Ping","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5521-3615","authenticated-orcid":false,"given":"Rong","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2018.01.055_bb0005","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1093\/eurheartj\/ehv253","article-title":"Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy","volume":"36","author":"Akinrinade","year":"2015","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.gene.2018.01.055_bb0010","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.ejheart.2005.11.003","article-title":"Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects","volume":"8","author":"Arbustini","year":"2006","journal-title":"Eur. J. Heart Fail."},{"key":"10.1016\/j.gene.2018.01.055_bb0015","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.ceb.2004.03.003","article-title":"Nonsense-mediated mRNA decay: terminating erroneous gene expression","volume":"16","author":"Baker","year":"2004","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.gene.2018.01.055_bb0020","doi-asserted-by":"crossref","first-page":"1919","DOI":"10.1161\/CIRCRESAHA.116.304030","article-title":"Genetics of sudden cardiac death","volume":"116","author":"Bezzina","year":"2015","journal-title":"Circ. Res."},{"key":"10.1016\/j.gene.2018.01.055_bb0025","doi-asserted-by":"crossref","DOI":"10.1093\/eurheartj\/ehu301","article-title":"Atlas of the clinical genetics of human dilated cardiomyopathy","volume":"36","author":"Haas","year":"2015","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.gene.2018.01.055_bb0030","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1038\/nrcardio.2013.105","article-title":"Dilated cardiomyopathy: the complexity of a diverse genetic architecture","volume":"10","author":"Hershberger","year":"2013","journal-title":"Nat. Rev. Cardiol."},{"issue":"8","key":"10.1016\/j.gene.2018.01.055_bb0035","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1038\/ng1403","article-title":"Nonsense-mediated decay approaches the clinic","volume":"36","author":"Holbrook","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2018.01.055_bb0040","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1021\/bi101379m","article-title":"Controlling the activity of the Tec kinase Itk by mutation of the phenylalanine gatekeeper residue","volume":"50","author":"Joseph","year":"2011","journal-title":"Biochemistry"},{"key":"10.1016\/j.gene.2018.01.055_bb0045","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/jhg.2015.83","article-title":"Molecular genetics and pathogenesis of cardiomyopathy","volume":"61","author":"Kimura","year":"2016","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.gene.2018.01.055_bb0050","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1253\/circj.CJ-14-0543","article-title":"Troponin I-interacting protein kinase: a novel cardiac-specific kinase, emerging as a molecular target for the treatment of cardiac disease","volume":"78","author":"Lal","year":"2014","journal-title":"Circ. J."},{"key":"10.1016\/j.gene.2018.01.055_bb0055","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2016-104308","article-title":"Genetic determinants of myocardial dysfunction","volume":"54","author":"Li","year":"2017","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.gene.2018.01.055_bb0060","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1016\/j.amjcard.2017.01.011","article-title":"Whole-exome sequencing identifies a novel mutation of desmocollin 2 in a Chinese family with arrhythmogenic right ventricular cardiomyopathy","volume":"119","author":"Liu","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.01.055_bb0065","first-page":"113","article-title":"Cardiac magnetic resonance study of scorpion toxic myocarditis","volume":"110","author":"Lonati","year":"2017","journal-title":"QJM"},{"key":"10.1016\/j.gene.2018.01.055_bb0070","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1161\/01.CIR.0000144458.58660.BB","article-title":"SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia","volume":"110","author":"McNair","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.gene.2018.01.055_bb0075","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1172\/JCI62862","article-title":"Genetic mutations and mechanisms in dilated cardiomyopathy","volume":"123","author":"McNally","year":"2013","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.gene.2018.01.055_bb0080","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.trsl.2015.06.007","article-title":"The role of genetic testing in unexplained sudden death","volume":"168","author":"Miles","year":"2016","journal-title":"Transl. Res."},{"key":"10.1016\/j.gene.2018.01.055_bb0085","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1016\/j.ijcard.2016.09.068","article-title":"Genetic basis of dilated cardiomyopathy","volume":"224","author":"Perez-Serra","year":"2016","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.gene.2018.01.055_bb0090","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.eupc.2004.11.004","article-title":"Mechanisms of inherited cardiac conduction disease","volume":"7","author":"Smits","year":"2005","journal-title":"Europace"},{"key":"10.1016\/j.gene.2018.01.055_bb0095","doi-asserted-by":"crossref","first-page":"5616","DOI":"10.1038\/srep05616","article-title":"Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death","volume":"4","author":"Tan","year":"2014","journal-title":"Sci. Rep."},{"key":"10.1016\/j.gene.2018.01.055_bb0100","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.yjmcc.2012.10.004","article-title":"Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction","volume":"54","author":"Tang","year":"2013","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.gene.2018.01.055_bb0105","doi-asserted-by":"crossref","first-page":"5793","DOI":"10.1093\/hmg\/ddu297","article-title":"TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy","volume":"23","author":"Theis","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2018.01.055_bb0110","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.3006479","article-title":"Inhibition of the cardiomyocyte-specific kinase TNNI3K limits oxidative stress, injury, and adverse remodeling in the ischemic heart","volume":"5","author":"Vagnozzi","year":"2013","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.gene.2018.01.055_bb0115","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.ijcard.2015.03.130","article-title":"Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia","volume":"185","author":"Xi","year":"2015","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.gene.2018.01.055_bb0120","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.gene.2013.10.028","article-title":"A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis","volume":"534","author":"Xiang","year":"2014","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.01.055_bb0125","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s00109-003-0427-x","article-title":"Cloning and characterization of a novel cardiac-specific kinase that interacts specifically with cardiac troponin I","volume":"81","author":"Zhao","year":"2003","journal-title":"J. Mol. Med. (Berl)"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111918300696?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111918300696?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,8,24]],"date-time":"2018-08-24T13:20:40Z","timestamp":1535116840000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111918300696"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3]]},"references-count":25,"alternative-id":["S0378111918300696"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2018.01.055","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2018,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Whole exome sequencing identifies a novel mutation (c.333\u202f+\u202f2T\u202f>\u202fC) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction disease","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2018.01.055","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}