{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T11:22:25Z","timestamp":1776252145555,"version":"3.50.1"},"reference-count":22,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2008,11]]},"DOI":"10.1016\/j.ejmg.2008.09.001","type":"journal-article","created":{"date-parts":[[2008,9,18]],"date-time":"2008-09-18T12:28:28Z","timestamp":1221740908000},"page":"580-587","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":70,"title":["T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease"],"prefix":"10.1016","volume":"51","author":[{"given":"Caixia","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adong","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaofeng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongzhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2008.09.001_bib1","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.1242\/dev.01832","article-title":"T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis","volume":"132","author":"Cai","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.09.001_bib2","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1161\/01.RES.0000116144.43797.3B","article-title":"Development gone awry: congenital heart disease","volume":"94","author":"Gruber","year":"2004","journal-title":"Circ. Res."},{"key":"10.1016\/j.ejmg.2008.09.001_bib3","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1002\/jcb.21686","article-title":"Characterization of TBX20 in human hearts and its regulation by TFAP2","volume":"104","author":"Hammer","year":"2008","journal-title":"J. Cell. Biochem."},{"key":"10.1016\/j.ejmg.2008.09.001_bib4","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1126\/science.1135308","article-title":"A \u201csilent\u201d polymorphism in the MDR1 gene changes substrate specificity","volume":"315","author":"Kimchi-Sarfaty","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2008.09.001_bib5","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","article-title":"Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy","volume":"81","author":"Kirk","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.09.001_bib6","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1126\/science.1138239","article-title":"Genetics. SNPs, silent but not invisible","volume":"315","author":"Komar","year":"2007","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2008.09.001_bib7","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1006\/geno.2000.6249","article-title":"Characterization of the human TBX20 gene, a new member of the T-Box gene family closely related to the Drosophila H15 gene","volume":"67","author":"Meins","year":"2000","journal-title":"Genomics"},{"key":"10.1016\/j.ejmg.2008.09.001_bib8","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.carpath.2007.06.005","article-title":"Genetic insights into normal and abnormal heart development","volume":"17","author":"Nemer","year":"2008","journal-title":"Cardiovasc. Pathol."},{"key":"10.1016\/j.ejmg.2008.09.001_bib9","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res."},{"key":"10.1016\/j.ejmg.2008.09.001_bib10","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ejmg.2008.09.001_bib11","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1146\/annurev.genom.7.080505.115630","article-title":"Predicting the effects of amino acid substitutions on protein function","volume":"7","author":"Ng","year":"2006","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"10.1016\/j.ejmg.2008.09.001_bib12","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/dvdy.20201","article-title":"T-box genes and heart development: putting the \u201cT\u201d in heart","volume":"232","author":"Plageman","year":"2005","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.ejmg.2008.09.001_bib13","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.yjmcc.2007.06.004","article-title":"Spectrum of heart disease associated with murine and human GATA4 mutation","volume":"43","author":"Rajagopal","year":"2007","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.ejmg.2008.09.001_bib14","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.semcdb.2006.12.005","article-title":"The genetics of cardiac birth defects","volume":"18","author":"Ransom","year":"2007","journal-title":"Semin. Cell. Dev. Biol."},{"key":"10.1016\/j.ejmg.2008.09.001_bib15","doi-asserted-by":"crossref","first-page":"9609","DOI":"10.1158\/0008-5472.CAN-07-2377","article-title":"Silent polymorphisms speak: how they affect pharmacogenomics and the treatment of cancer","volume":"67","author":"Sauna","year":"2007","journal-title":"Cancer Res."},{"key":"10.1016\/j.ejmg.2008.09.001_bib16","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1242\/dev.01854","article-title":"Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2","volume":"132","author":"Singh","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.09.001_bib17","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/35025190","article-title":"A genetic blueprint for cardiac development","volume":"407","author":"Srivastava","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2008.09.001_bib18","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/S0012-1606(03)00385-3","article-title":"Cardiac T-box factor Tbx20 directly interacts with Nkx2\u20135, GATA4, and GATA5 in regulation of gene expression in the developing heart","volume":"262","author":"Stennard","year":"2003","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ejmg.2008.09.001_bib19","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1242\/dev.01799","article-title":"Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation","volume":"132","author":"Stennard","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.09.001_bib20","doi-asserted-by":"crossref","first-page":"4897","DOI":"10.1242\/dev.02099","article-title":"T-box transcription factors and their roles in regulatory hierarchies in the developing heart","volume":"132","author":"Stennard","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.09.001_bib21","doi-asserted-by":"crossref","first-page":"2463","DOI":"10.1242\/dev.01827","article-title":"Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development","volume":"132","author":"Takeuchi","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ejmg.2008.09.001_bib22","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.2007.052183","article-title":"GATA4 sequence variants in patients with congenital heart disease","volume":"44","author":"Tomita-Mitchell","year":"2007","journal-title":"J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208001286?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721208001286?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:36:45Z","timestamp":1761709005000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721208001286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,11]]}},"alternative-id":["S1769721208001286"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.09.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2008,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2008.09.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}