{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T04:16:53Z","timestamp":1778818613907,"version":"3.51.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"6947","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[2003,7]]},"DOI":"10.1038\/nature01827","type":"journal-article","created":{"date-parts":[[2003,7,7]],"date-time":"2003-07-07T05:11:44Z","timestamp":1057554704000},"page":"443-447","source":"Crossref","is-referenced-by-count":1032,"title":["GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5"],"prefix":"10.1038","volume":"424","author":[{"given":"Vidu","family":"Garg","sequence":"first","affiliation":[]},{"given":"Irfan S.","family":"Kathiriya","sequence":"additional","affiliation":[]},{"given":"Robert","family":"Barnes","sequence":"additional","affiliation":[]},{"given":"Marie K.","family":"Schluterman","sequence":"additional","affiliation":[]},{"given":"Isabelle N.","family":"King","sequence":"additional","affiliation":[]},{"given":"Cheryl A.","family":"Butler","sequence":"additional","affiliation":[]},{"given":"Caryn R.","family":"Rothrock","sequence":"additional","affiliation":[]},{"given":"Reenu S.","family":"Eapen","sequence":"additional","affiliation":[]},{"given":"Kayoko","family":"Hirayama-Yamada","sequence":"additional","affiliation":[]},{"given":"Kunitaka","family":"Joo","sequence":"additional","affiliation":[]},{"given":"Rumiko","family":"Matsuoka","sequence":"additional","affiliation":[]},{"given":"Jonathan C.","family":"Cohen","sequence":"additional","affiliation":[]},{"given":"Deepak","family":"Srivastava","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2003,7,6]]},"reference":[{"key":"BFnature01827_CR1","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/BF00801907","volume":"16","author":"JIE Hoffman","year":"1995","unstructured":"Hoffman, J. I. E. Incidence of congenital heart disease: I. Postnatal incidence. Pediatr. Cardiol. 16, 103\u2013113 (1995)","journal-title":"Pediatr. Cardiol."},{"key":"BFnature01827_CR2","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. et al. Congenital heart disease caused by mutations in the transcription factor NKX2\u20135. Science 281, 108\u2013111 (1998)","journal-title":"Science"},{"key":"BFnature01827_CR3","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"},{"key":"BFnature01827_CR4","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1101\/gad.11.8.1061","volume":"11","author":"JD Molkentin","year":"1997","unstructured":"Molkentin, J. D., Lin, Q., Duncan, S. A. & Olson, E. N. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev. 11, 1061\u20131072 (1997)","journal-title":"Genes Dev."},{"key":"BFnature01827_CR5","doi-asserted-by":"publisher","first-page":"1048","DOI":"10.1101\/gad.11.8.1048","volume":"11","author":"CT Kuo","year":"1997","unstructured":"Kuo, C. T. et al. GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev. 11, 1048\u20131060 (1997)","journal-title":"Genes Dev."},{"key":"BFnature01827_CR6","doi-asserted-by":"crossref","first-page":"5679","DOI":"10.1242\/dev.126.24.5679","volume":"126","author":"K Gajewski","year":"1999","unstructured":"Gajewski, K., Fossett, N., Molkentin, J. D. & Schulz, R. A. The zinc finger proteins Pannier and GATA4 function as cardiogenic factors in Drosophila. Development 126, 5679\u20135688 (1999)","journal-title":"Development"},{"key":"BFnature01827_CR7","doi-asserted-by":"publisher","first-page":"2983","DOI":"10.1101\/gad.13.22.2983","volume":"13","author":"JF Reiter","year":"1999","unstructured":"Reiter, J. F. et al. Gata5 is required for the development of the heart and endoderm in zebrafish. Genes Dev. 13, 2983\u20132995 (1999)","journal-title":"Genes Dev."},{"key":"BFnature01827_CR8","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng0197-30","volume":"15","author":"CT Basson","year":"1997","unstructured":"Basson, C. T. et al. Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome. Nature Genet. 15, 30\u201335 (1997)","journal-title":"Nature Genet."},{"key":"BFnature01827_CR9","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng0197-21","volume":"15","author":"QY Li","year":"1997","unstructured":"Li, Q. Y. et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nature Genet. 15, 21\u201329 (1997)","journal-title":"Nature Genet."},{"key":"BFnature01827_CR10","doi-asserted-by":"publisher","first-page":"2258","DOI":"10.1126\/science.1067338","volume":"295","author":"PA Frischmeyer","year":"2002","unstructured":"Frischmeyer, P. A. et al. An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science 295, 2258\u20132261 (2002)","journal-title":"Science"},{"key":"BFnature01827_CR11","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V","volume":"83","author":"T Pehlivan","year":"1999","unstructured":"Pehlivan, T. et al. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am. J. Med. Genet. 83, 201\u2013206 (1999)","journal-title":"Am. J. Med. Genet."},{"key":"BFnature01827_CR12","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1016\/0092-8674(89)90940-9","volume":"58","author":"T Evans","year":"1989","unstructured":"Evans, T. & Felsenfeld, G. The erythroid-specific transcription factor Eryf1: a new finger protein. Cell 58, 877\u2013885 (1989)","journal-title":"Cell"},{"key":"BFnature01827_CR13","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1038\/339446a0","volume":"339","author":"SF Tsai","year":"1989","unstructured":"Tsai, S. F. et al. Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature 339, 446\u2013451 (1989)","journal-title":"Nature"},{"key":"BFnature01827_CR14","doi-asserted-by":"publisher","first-page":"2235","DOI":"10.1128\/MCB.13.4.2235","volume":"13","author":"RJ Arceci","year":"1993","unstructured":"Arceci, R. J., King, A. A., Simon, M. C., Orkin, S. H. & Wilson, D. B. Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart. Mol. Cell. Biol. 13, 2235\u20132246 (1993)","journal-title":"Mol. Cell. Biol."},{"key":"BFnature01827_CR15","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1038\/73480","volume":"24","author":"KE Nichols","year":"2000","unstructured":"Nichols, K. E. et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nature Genet. 24, 266\u2013270 (2000)","journal-title":"Nature Genet."},{"key":"BFnature01827_CR16","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1038\/35019088","volume":"406","author":"H Van Esch","year":"2000","unstructured":"Van Esch, H. et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406, 419\u2013422 (2000)","journal-title":"Nature"},{"key":"BFnature01827_CR17","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":"BFnature01827_CR18","doi-asserted-by":"publisher","first-page":"4947","DOI":"10.1128\/MCB.14.7.4947","volume":"14","author":"JD Molkentin","year":"1994","unstructured":"Molkentin, J. D., Kalvakolanu, D. V. & Markham, B. E. Transcription factor GATA-4 regulates cardiac muscle-specific expression of the alpha-myosin heavy-chain gene. Mol. Cell. Biol. 14, 4947\u20134957 (1994)","journal-title":"Mol. Cell. Biol."},{"key":"BFnature01827_CR19","doi-asserted-by":"publisher","first-page":"1060","DOI":"10.1161\/01.RES.77.6.1060","volume":"77","author":"AB Sprenkle","year":"1995","unstructured":"Sprenkle, A. B., Murray, S. F. & Glembotski, C. C. Involvement of multiple cis elements in basal- and alpha-adrenergic agonist-inducible atrial natriuretic factor transcription. Roles for serum response elements and an SP-1-like element. Circ. Res. 77, 1060\u20131069 (1995)","journal-title":"Circ. Res."},{"key":"BFnature01827_CR20","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":"BFnature01827_CR21","doi-asserted-by":"crossref","first-page":"5331","DOI":"10.1242\/dev.127.24.5331","volume":"127","author":"DG McFadden","year":"2000","unstructured":"McFadden, D. G. et al. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127, 5331\u20135341 (2000)","journal-title":"Development"},{"key":"BFnature01827_CR22","doi-asserted-by":"publisher","first-page":"5687","DOI":"10.1093\/emboj\/16.18.5687","volume":"16","author":"D Durocher","year":"1997","unstructured":"Durocher, D., Charron, F., Warren, R., Schwartz, R. J. & Nemer, M. The cardiac transcription factors Nkx2\u20135 and GATA-4 are mutual cofactors. EMBO J. 16, 5687\u20135696 (1997)","journal-title":"EMBO J."},{"key":"BFnature01827_CR23","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1038\/90123","volume":"28","author":"Y Hiroi","year":"2001","unstructured":"Hiroi, Y. et al. Tbx5 associates with Nkx2\u20135 and synergistically promotes cardiomyocyte differentiation. Nature Genet. 28, 276\u2013280 (2001)","journal-title":"Nature Genet."},{"key":"BFnature01827_CR24","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/S0092-8674(01)00493-7","volume":"106","author":"BG Bruneau","year":"2001","unstructured":"Bruneau, B. G. et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106, 709\u2013721 (2001)","journal-title":"Cell"},{"key":"BFnature01827_CR25","doi-asserted-by":"publisher","first-page":"2919","DOI":"10.1073\/pnas.96.6.2919","volume":"96","author":"CT Basson","year":"1999","unstructured":"Basson, C. T. et al. Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc. Natl Acad. Sci. USA 96, 2919\u20132924 (1999)","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFnature01827_CR26","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1136\/jmg.37.10.785","volume":"37","author":"SJ Cross","year":"2000","unstructured":"Cross, S. J. et al. The mutation spectrum in Holt-Oram syndrome. J. Med. Genet. 37, 785\u2013787 (2000)","journal-title":"J. Med. Genet."},{"key":"BFnature01827_CR27","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<237::AID-AJMG2>3.0.CO;2-G","volume":"92","author":"J Yang","year":"2000","unstructured":"Yang, J. et al. Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome. Am. J. Med. Genet. 92, 237\u2013240 (2000)","journal-title":"Am. J. Med. Genet."},{"key":"BFnature01827_CR28","doi-asserted-by":"publisher","first-page":"1394","DOI":"10.1126\/science.1060458","volume":"292","author":"CK Garcia","year":"2001","unstructured":"Garcia, C. K. et al. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science 292, 1394\u20131398 (2001)","journal-title":"Science"},{"key":"BFnature01827_CR29","first-page":"1347","volume":"58","author":"L Kruglyak","year":"1996","unstructured":"Kruglyak, L., Daly, M. J., Reeve-Daly, M. P. & Lander, E. S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347\u20131363 (1996)","journal-title":"Am. J. Hum. Genet."},{"key":"BFnature01827_CR30","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1101\/gad.1048903","volume":"17","author":"H Yamagishi","year":"2003","unstructured":"Yamagishi, H. et al. Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev. 17, 269\u2013281 (2003)","journal-title":"Genes Dev."}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nature01827.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nature01827","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nature01827.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T14:16:26Z","timestamp":1684419386000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nature01827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7]]},"references-count":30,"journal-issue":{"issue":"6947","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["BFnature01827"],"URL":"https:\/\/doi.org\/10.1038\/nature01827","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1014363.193485","asserted-by":"object"},{"id-type":"doi","id":"10.3410\/f.1014363.193367","asserted-by":"object"}]},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7]]}}}