{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,18]],"date-time":"2026-04-18T13:43:07Z","timestamp":1776519787878,"version":"3.51.2"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470372"],"award-info":[{"award-number":["81470372"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81641014"],"award-info":[{"award-number":["81641014"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007219","name":"Natural Science Foundation of Shanghai","doi-asserted-by":"publisher","award":["16ZR1432500"],"award-info":[{"award-number":["16ZR1432500"]}],"id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Project Foundation of Health and Family Planning Commission of Shanghai","award":["20134y122"],"award-info":[{"award-number":["20134y122"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Gene"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.gene.2018.04.018","type":"journal-article","created":{"date-parts":[[2018,4,10]],"date-time":"2018-04-10T12:25:03Z","timestamp":1523363103000},"page":"115-120","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":47,"special_numbering":"C","title":["GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve"],"prefix":"10.1016","volume":"663","author":[{"given":"Ying-Jia","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Min","family":"Di","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Qiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiu-Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ri-Tai","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"Xue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xing-Yuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2018.04.018_bb0005","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1038\/pr.2014.67","article-title":"Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve","volume":"76","author":"Bonachea","year":"2014","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.gene.2018.04.018_bb0010","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1089\/scd.2005.14.425","article-title":"GATA factors lie upstream of Nkx 2.5 in the transcriptional regulatory cascade that effects cardiogenesis","volume":"14","author":"Brewer","year":"2005","journal-title":"Stem Cells Dev."},{"key":"10.1016\/j.gene.2018.04.018_bb0015","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/j.gene.2015.08.033","article-title":"Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population","volume":"575","author":"Cao","year":"2016","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.04.018_bb0020","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.gene.2015.09.021","article-title":"Novel mutation of GATA4 (K300T) associated with familial atrial septal defect","volume":"575","author":"Chen","year":"2016","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.04.018_bb0025","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1016\/j.amjcard.2015.10.058","article-title":"Identification of gender-specific genetic variants in patients with bicuspid aortic valve","volume":"117","author":"Dargis","year":"2016","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0030","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","article-title":"Mutations in NOTCH1 cause aortic valve disease","volume":"437","author":"Garg","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.gene.2018.04.018_bb0035","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.1016\/j.athoracsur.2010.12.060","article-title":"Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection","volume":"91","author":"Girdauskas","year":"2011","journal-title":"Ann. Thorac. Surg."},{"key":"10.1016\/j.gene.2018.04.018_bb0040","doi-asserted-by":"crossref","first-page":"612","DOI":"10.3389\/fphys.2017.00612","article-title":"Genetic bases of bicuspid aortic valve: the contribution of traditional and high-throughput sequencing approaches on research and diagnosis","volume":"8","author":"Giusti","year":"2017","journal-title":"Front. Physiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0045","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1016\/j.ydbio.2007.09.018","article-title":"Gata5 and Gata6 are functionally redundant in zebrafish for specification of cardiomyocytes","volume":"312","author":"Holtzinger","year":"2007","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2018.04.018_bb0050","doi-asserted-by":"crossref","first-page":"13933","DOI":"10.1073\/pnas.0904744106","article-title":"GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling","volume":"106","author":"Kodo","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2018.04.018_bb0055","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1242\/dev.126.9.723","article-title":"The transcription factor GATA6 is essential for early extraembryonic development","volume":"126","author":"Koutsourakis","year":"1999","journal-title":"Development"},{"key":"10.1016\/j.gene.2018.04.018_bb0060","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ydbio.2011.07.037","article-title":"GATA5 interacts with GATA4 and GATA6 in outflow tract development","volume":"358","author":"Laforest","year":"2011","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2018.04.018_bb0065","doi-asserted-by":"crossref","first-page":"2049","DOI":"10.1016\/j.amjcard.2017.03.038","article-title":"Factors determining aortic valve dysfunction in Korean subjects with a bicuspid aortic valve","volume":"119","author":"Lee","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0070","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1017\/erm.2016.2","article-title":"The emerging role of GATA transcription factors in development and disease","volume":"18","author":"Lentjes","year":"2016","journal-title":"Expert Rev. Mol. Med."},{"key":"10.1016\/j.gene.2018.04.018_bb0075","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1172\/JCI27363","article-title":"GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis","volume":"116","author":"Lepore","year":"2006","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.gene.2018.04.018_bb0080","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1080\/14737159.2017.1300062","article-title":"An update on the molecular diagnosis of congenital heart disease: focus on loss-of-function mutations","volume":"17","author":"Li","year":"2017","journal-title":"Expert. Rev. Mol. Diagn."},{"key":"10.1016\/j.gene.2018.04.018_bb0085","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1016\/j.amjcard.2017.04.025","article-title":"Prevalence and complications of bicuspid aortic valve in Chinese according to echocardiographic database","volume":"120","author":"Li","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0090","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.amjcard.2017.11.012","article-title":"GATA4 loss-of-function mutation and the congenitally bicuspid aortic valve","volume":"121","author":"Li","year":"2018","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0095","doi-asserted-by":"crossref","first-page":"3277","DOI":"10.1242\/dev.063495","article-title":"Partitioning the heart: mechanisms of cardiac septation and valve development","volume":"139","author":"Lin","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.gene.2018.04.018_bb0100","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/j.amjcard.2017.06.060","article-title":"Prognostic significance of left ventricular fibrosis in patients with congenital bicuspid aortic valve","volume":"120","author":"Lluri","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0105","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ydbio.2008.11.004","article-title":"Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development","volume":"326","author":"Maitra","year":"2009","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2018.04.018_bb0110","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1136\/heartjnl-2016-309916","article-title":"Contemporary natural history of bicuspid aortic valve disease: a systematic review","volume":"103","author":"Masri","year":"2017","journal-title":"Heart"},{"key":"10.1016\/j.gene.2018.04.018_bb0115","doi-asserted-by":"crossref","first-page":"38949","DOI":"10.1074\/jbc.R000029200","article-title":"The zinc finger-containing transcription factors GATA-4, \u22125, and \u22126. Ubiquitously expressed regulators of tissue-specific gene expression","volume":"275","author":"Molkentin","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.gene.2018.04.018_bb0120","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1006\/dbio.1999.9544","article-title":"Direct activation of a GATA6 cardiac enhancer by Nkx2.5: evidence for a reinforcing regulatory network of Nkx2.5 and GATA transcription factors in the developing heart","volume":"217","author":"Molkentin","year":"2000","journal-title":"Dev. Biol."},{"key":"10.1016\/j.gene.2018.04.018_bb0125","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.yjmcc.2012.05.009","article-title":"Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease","volume":"53","author":"Padang","year":"2012","journal-title":"J. Mol. Cell. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0130","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1161\/CIRCGENETICS.112.962894","article-title":"Genetic basis of familial valvular heart disease","volume":"5","author":"Padang","year":"2012","journal-title":"Circ. Cardiovasc. Genet."},{"key":"10.1016\/j.gene.2018.04.018_bb0135","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1471-2350-15-23","article-title":"Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) without Marfan syndrome","volume":"15","author":"Pepe","year":"2014","journal-title":"BMC Med. Genet."},{"key":"10.1016\/j.gene.2018.04.018_bb0140","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1016\/j.amjcard.2015.12.034","article-title":"Relation of aortic valve morphologic characteristics to aortic valve insufficiency and residual stenosis in children with congenital aortic stenosis undergoing balloon valvuloplasty","volume":"117","author":"Petit","year":"2016","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0145","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1016\/j.jacc.2014.04.073","article-title":"A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the international BAVCon (bicuspid aortic valve consortium)","volume":"64","author":"Prakash","year":"2014","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0150","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/j.amjcard.2014.09.028","article-title":"A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve","volume":"114","author":"Qu","year":"2014","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0155","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1093\/hmg\/ddv004","article-title":"MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus","volume":"24","author":"Quintero-Rivera","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.gene.2018.04.018_bb0160","doi-asserted-by":"crossref","first-page":"H1952","DOI":"10.1152\/ajpheart.00635.2011","article-title":"GATA6 reporter gene reveals myocardial pheno-typic heterogeneity that is related to variations in gap junction coupling","volume":"301","author":"R\u00e9mond","year":"2011","journal-title":"Am. J. Physiol. Heart Circ. Physiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0165","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.amjcard.2011.09.002","article-title":"Presence of a congenitally bicuspid aortic valve among patients having combined mitral and aortic valve replacement","volume":"109","author":"Roberts","year":"2012","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0170","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1016\/j.amjcard.2015.12.008","article-title":"Atrophy of the heart after insertion of a left ventricular assist device and closure of the aortic valve","volume":"117","author":"Roberts","year":"2016","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0175","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1016\/j.amjcard.2017.06.061","volume":"120","author":"Roman","year":"2017","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0180","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1016\/j.amjcard.2016.08.017","article-title":"Frequency of and prognostic significance of atrial fibrillation in patients undergoing transcatheter aortic valve implantation","volume":"118","author":"Sannino","year":"2016","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.gene.2018.04.018_bb0185","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3892\/ijmm.2014.1700","article-title":"GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve","volume":"33","author":"Shi","year":"2014","journal-title":"Int. J. Mol. Med."},{"key":"10.1016\/j.gene.2018.04.018_bb0190","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.gene.2016.04.061","article-title":"Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease","volume":"588","author":"Tong","year":"2016","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.04.018_bb0195","doi-asserted-by":"crossref","first-page":"1610","DOI":"10.1089\/dna.2012.1814","article-title":"Novel GATA6 mutations associated with congenital ventricular septal defect or tetralogy of Fallot","volume":"31","author":"Wang","year":"2012","journal-title":"DNA Cell Biol."},{"key":"10.1016\/j.gene.2018.04.018_bb0200","doi-asserted-by":"crossref","first-page":"11189","DOI":"10.1073\/pnas.0604604103","article-title":"A threshold of GATA4 and GATA6 expression is required for cardiovascular development","volume":"103","author":"Xin","year":"2006","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.gene.2018.04.018_bb0205","doi-asserted-by":"crossref","first-page":"1315","DOI":"10.3892\/ijmm.2014.1896","article-title":"GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy","volume":"34","author":"Xu","year":"2014","journal-title":"Int. J. Mol. Med."},{"key":"10.1016\/j.gene.2018.04.018_bb0210","article-title":"Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve","volume":"8","author":"Yang","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.gene.2018.04.018_bb0215","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.gene.2017.10.078","article-title":"Functional mutant GATA4 identification and potential application in preimplantation diagnosis of congenital heart diseases","volume":"641","author":"Yu","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.04.018_bb0220","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.gene.2017.10.083","article-title":"Targeted sequencing identifies novel GATA6 variants in a large cohort of patients with conotruncal heart defects","volume":"641","author":"Zhang","year":"2018","journal-title":"Gene"},{"key":"10.1016\/j.gene.2018.04.018_bb0225","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/j.ydbio.2008.03.013","article-title":"Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice","volume":"317","author":"Zhao","year":"2008","journal-title":"Dev. Biol."}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191830386X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S037811191830386X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T16:19:33Z","timestamp":1759853973000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S037811191830386X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":45,"alternative-id":["S037811191830386X"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2018.04.018","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"GATA6 loss-of-function mutation contributes to congenital bicuspid aortic valve","name":"articletitle","label":"Article Title"},{"value":"Gene","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gene.2018.04.018","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"}]}}