{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T14:55:18Z","timestamp":1772549718931,"version":"3.50.1"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T00:00:00Z","timestamp":1279152000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2010,10]]},"DOI":"10.1038\/jhg.2010.84","type":"journal-article","created":{"date-parts":[[2010,7,15]],"date-time":"2010-07-15T06:28:49Z","timestamp":1279175329000},"page":"662-667","source":"Crossref","is-referenced-by-count":104,"title":["A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect"],"prefix":"10.1038","volume":"55","author":[{"given":"Xiaoping","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaoxia","family":"Huo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingyuan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yangyang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biao","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiqing","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Han","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,7,15]]},"reference":[{"key":"BFjhg201084_CR1","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1038\/nature06801","volume":"451","author":"BG Bruneau","year":"2008","unstructured":"Bruneau, B. G. The developmental genetics of congenital heart disease. Nature 451, 943\u2013948 (2008).","journal-title":"Nature"},{"key":"BFjhg201084_CR2","doi-asserted-by":"publisher","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","volume":"115","author":"ME Pierpont","year":"2007","unstructured":"Pierpont, M. E., Basson, C. T., Benson, D. W. Jr., Gelb, B. D., Giglia, T. M., Goldmuntz, E. et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 115, 3015\u20133038 (2007).","journal-title":"Circulation"},{"key":"BFjhg201084_CR3","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng0197-30","volume":"15","author":"CT Basson","year":"1997","unstructured":"Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., Elkins, J. A., Soults, J. et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15, 30\u201335 (1997).","journal-title":"Nat. Genet."},{"key":"BFjhg201084_CR4","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1038\/nature01827","volume":"424","author":"V Garg","year":"2003","unstructured":"Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A. et al. GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424, 443\u2013447 (2003).","journal-title":"Nature"},{"key":"BFjhg201084_CR5","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng0197-21","volume":"15","author":"QY Li","year":"1997","unstructured":"Li, Q. Y., Newbury-Ecob, R. A., Terrett, J. A., Wilson, D. I., Curtis, A. R., Yi, C. H. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat. Genet. 15, 21\u201329 (1997).","journal-title":"Nat. Genet."},{"key":"BFjhg201084_CR6","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1126\/science.281.5373.108","volume":"281","author":"JJ Schott","year":"1998","unstructured":"Schott, J. J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P. et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science (New York, N.Y.) 281, 108\u2013111 (1998).","journal-title":"Science (New York, N.Y.)"},{"key":"BFjhg201084_CR7","doi-asserted-by":"publisher","first-page":"38949","DOI":"10.1074\/jbc.R000029200","volume":"275","author":"JD Molkentin","year":"2000","unstructured":"Molkentin, J. D. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J. Biol. Chem. 275, 38949\u201338952 (2000).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201084_CR8","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/S0959-437X(02)00319-2","volume":"12","author":"RK Patient","year":"2002","unstructured":"Patient, R. K. & McGhee, J. D. The GATA family (vertebrates and invertebrates). Curr. Opin. Genet. Dev. 12, 416\u2013422 (2002).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"BFjhg201084_CR9","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.semcdb.2004.10.003","volume":"16","author":"T Peterkin","year":"2005","unstructured":"Peterkin, T., Gibson, A., Loose, M. & Patient, R. The roles of GATA-4, -5 and -6 in vertebrate heart development. Semin. Cell. Dev. Biol. 16, 83\u201394 (2005).","journal-title":"Semin. Cell. Dev. Biol."},{"key":"BFjhg201084_CR10","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1002\/ajmg.a.30684","volume":"135","author":"K Hirayama-Yamada","year":"2005","unstructured":"Hirayama-Yamada, K., Kamisago, M., Akimoto, K., Aotsuka, H., Nakamura, Y., Tomita, H. et al. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am. J. Med. Genet. A 135, 47\u201352 (2005).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201084_CR11","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1002\/humu.9410","volume":"27","author":"G Nemer","year":"2006","unstructured":"Nemer, G., Fadlalah, F., Usta, J., Nemer, M., Dbaibo, G., Obeid, M. et al. A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum. Mutat. 27, 293\u2013294 (2006).","journal-title":"Hum. Mutat."},{"key":"BFjhg201084_CR12","doi-asserted-by":"publisher","first-page":"e97","DOI":"10.1136\/jmg.2004.018895","volume":"41","author":"A Okubo","year":"2004","unstructured":"Okubo, A., Miyoshi, O., Baba, K., Takagi, M., Tsukamoto, K., Kinoshita, A. et al. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J. Med. Genet. 41, e97 (2004).","journal-title":"J. Med. Genet."},{"key":"BFjhg201084_CR13","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ajmg.a.32042","volume":"146A","author":"MG Posch","year":"2008","unstructured":"Posch, M. G., Perrot, A., Schmitt, K., Mittelhaus, S., Esenwein, E. M., Stiller, B. et al. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am. J. Med. Genet. A 146A, 251\u2013253 (2008).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201084_CR14","doi-asserted-by":"publisher","first-page":"e16","DOI":"10.1136\/jmg.2004.026740","volume":"42","author":"A Sarkozy","year":"2005","unstructured":"Sarkozy, A., Conti, E., Neri, C., D\u2019Agostino, R., Digilio, M. C., Esposito, G. et al. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J. Med. Genet. 42, e16 (2005).","journal-title":"J. Med. Genet."},{"key":"BFjhg201084_CR15","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1002\/ajmg.a.31652","volume":"143A","author":"MK Schluterman","year":"2007","unstructured":"Schluterman, M. K., Krysiak, A. E., Kathiriya, I. S., Abate, N., Chandalia, M., Srivastava, D. et al. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. Am. J. Med. Genet. A 143A, 817\u2013823 (2007).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201084_CR16","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1136\/jmg.2007.052183","volume":"44","author":"A Tomita-Mitchell","year":"2007","unstructured":"Tomita-Mitchell, A., Maslen, C. L., Morris, C. D., Garg, V. & Goldmuntz, E. GATA4 sequence variants in patients with congenital heart disease. J. Med. Genet. 44, 779\u2013783 (2007).","journal-title":"J. Med. Genet."},{"key":"BFjhg201084_CR17","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1016\/j.ejmg.2008.06.005","volume":"51","author":"W Zhang","year":"2008","unstructured":"Zhang, W., Li, X., Shen, A., Jiao, W., Guan, X. & Li, Z. GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur. J. Med. Genet. 51, 527\u2013535 (2008).","journal-title":"Eur. J. Med. Genet."},{"key":"BFjhg201084_CR18","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1172\/JCI27363","volume":"116","author":"JJ Lepore","year":"2006","unstructured":"Lepore, J. J., Mericko, P. A., Cheng, L., Lu, M. M., Morrisey, E. E. & Parmacek, M. S. GATA-6 regulates semaphorin 3C and is required in cardiac neural crest for cardiovascular morphogenesis. J. Clin. Invest. 116, 929\u2013939 (2006).","journal-title":"J. Clin. Invest."},{"key":"BFjhg201084_CR19","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.ydbio.2008.11.004","volume":"326","author":"M Maitra","year":"2009","unstructured":"Maitra, M., Schluterman, M. K., Nichols, H. A., Richardson, J. A., Lo, C. W., Srivastava, D. et al. Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev. Biol. 326, 368\u2013377 (2009).","journal-title":"Dev. Biol."},{"key":"BFjhg201084_CR20","doi-asserted-by":"publisher","first-page":"11189","DOI":"10.1073\/pnas.0604604103","volume":"103","author":"M Xin","year":"2006","unstructured":"Xin, M., Davis, C. A., Molkentin, J. D., Lien, C. L., Duncan, S. A., Richardson, J. A. et al. A threshold of GATA4 and GATA6 expression is required for cardiovascular development. Proc. Natl Acad. Sci. USA 103, 11189\u201311194 (2006).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201084_CR21","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1016\/j.ydbio.2008.03.013","volume":"317","author":"R Zhao","year":"2008","unstructured":"Zhao, R., Watt, A. J., Battle, M. A., Li, J., Bondow, B. J. & Duncan, S. A. Loss of both GATA4 and GATA6 blocks cardiac myocyte differentiation and results in acardia in mice. Dev. Biol. 317, 614\u2013619 (2008).","journal-title":"Dev. Biol."},{"key":"BFjhg201084_CR22","doi-asserted-by":"publisher","first-page":"13933","DOI":"10.1073\/pnas.0904744106","volume":"106","author":"K Kodo","year":"2009","unstructured":"Kodo, K., Nishizawa, T., Furutani, M., Arai, S., Yamamura, E., Joo, K. et al. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc. Natl Acad. Sci. USA 106, 13933\u201313938 (2009).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201084_CR23","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1172\/JCI200422220","volume":"114","author":"HH Li","year":"2004","unstructured":"Li, H. H., Kedar, V., Zhang, C., McDonough, H., Arya, R., Wang, D. Z. et al. Atrogin-1\/muscle atrophy F-box inhibits calcineurin-dependent cardiac hypertrophy by participating in an SCF ubiquitin ligase complex. J. Clin. Invest. 114, 1058\u20131071 (2004).","journal-title":"J. Clin. Invest."},{"key":"BFjhg201084_CR24","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1161\/01.CIR.0000027905.26586.E8","volume":"106","author":"PW Fedak","year":"2002","unstructured":"Fedak, P. W., Verma, S., David, T. E., Leask, R. L., Weisel, R. D. & Butany, J. Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation 106, 900\u2013904 (2002).","journal-title":"Circulation"},{"key":"BFjhg201084_CR25","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1161\/01.RES.0000227505.19472.69","volume":"98","author":"T Nakamura","year":"2006","unstructured":"Nakamura, T., Colbert, M. C. & Robbins, J. Neural crest cells retain multipotential characteristics in the developing valves and label the cardiac conduction system. Circ. Res. 98, 1547\u20131554 (2006).","journal-title":"Circ. Res."},{"key":"BFjhg201084_CR26","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1007\/s00439-006-0316-9","volume":"121","author":"LJ Martin","year":"2007","unstructured":"Martin, L. J., Ramachandran, V., Cripe, L. H., Hinton, R. B., Andelfinger, G., Tabangin, M. et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum. Genet. 121, 275\u2013284 (2007).","journal-title":"Hum. Genet."},{"key":"BFjhg201084_CR27","doi-asserted-by":"publisher","first-page":"8515","DOI":"10.1074\/jbc.272.13.8515","volume":"272","author":"EE Morrisey","year":"1997","unstructured":"Morrisey, E. E., Ip, H. S., Tang, Z. & Parmacek, M. S. GATA-4 activates transcription via two novel domains that are conserved within the GATA-4\/5\/6 subfamily. J. Biol. Chem. 272, 8515\u20138524 (1997).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201084_CR28","doi-asserted-by":"publisher","first-page":"4355","DOI":"10.1128\/MCB.19.6.4355","volume":"19","author":"F Charron","year":"1999","unstructured":"Charron, F., Paradis, P., Bronchain, O., Nemer, G. & Nemer, M. Cooperative interaction between GATA-4 and GATA-6 regulates myocardial gene expression. Mol. Cell. Biol. 19, 4355\u20134365 (1999).","journal-title":"Mol. Cell. Biol."},{"key":"BFjhg201084_CR29","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1242\/dev.126.4.723","volume":"126","author":"M Koutsourakis","year":"1999","unstructured":"Koutsourakis, M., Langeveld, A., Patient, R., Beddington, R. & Grosveld, F. The transcription factor GATA6 is essential for early extraembryonic development. Development (Cambridge, England) 126, 723\u2013732 (1999).","journal-title":"Development (Cambridge, England)"},{"key":"BFjhg201084_CR30","doi-asserted-by":"publisher","first-page":"3579","DOI":"10.1101\/gad.12.22.3579","volume":"12","author":"EE Morrisey","year":"1998","unstructured":"Morrisey, E. E., Tang, Z., Sigrist, K., Lu, M. M., Jiang, F., Ip, H. S. et al. GATA6 regulates HNF4 and is required for differentiation of visceral endoderm in the mouse embryo. Genes. Dev. 12, 3579\u20133590 (1998).","journal-title":"Genes. Dev."},{"key":"BFjhg201084_CR31","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1038\/35025190","volume":"407","author":"D Srivastava","year":"2000","unstructured":"Srivastava, D. & Olson, E. N. A genetic blueprint for cardiac development. Nature 407, 221\u2013226 (2000).","journal-title":"Nature"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg201084.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201084","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg201084.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:27:53Z","timestamp":1684430873000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201084"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,15]]},"references-count":31,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["BFjhg201084"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2010.84","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,15]]}}}