{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:26:40Z","timestamp":1777660000422,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2010,9,27]],"date-time":"2010-09-27T00:00:00Z","timestamp":1285545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2010,12,1]]},"abstract":"<jats:p>\n                    Congenital heart disease (CHD) represents one of the most common birth defects, but the genetic causes remain largely unknown. Mutations in\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    , encoding a zinc finger transcription factor with a pivotal role in heart development, have been associated with CHD in several familial cases and a small subset of sporadic patients. To estimate the pathogenetic role of\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    in CHD, we screened for mutations in 357 unrelated patients with different congenital heart malformations. In addition to nine synonymous changes, we identified two known (A411V and D425N) and two novel putative mutations (G69D and P163R) in five patients with atrial or ventricular septal defects that were not seen in control subjects. The four mutations did not show altered GATA4 transcriptional activity in synergy with the transcription factors NKX2-5 and TBX20. Our data expand the spectrum of mutations associated with cardiac septal defects but do not support\n                    <jats:italic toggle=\"yes\">GATA4<\/jats:italic>\n                    mutations as a common cause of CHD.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2010.0028","type":"journal-article","created":{"date-parts":[[2010,9,27]],"date-time":"2010-09-27T20:44:24Z","timestamp":1285620264000},"page":"797-802","source":"Crossref","is-referenced-by-count":47,"title":["<i>GATA4<\/i>\n                    Mutations in 357 Unrelated Patients with Congenital Heart Malformation"],"prefix":"10.1177","volume":"14","author":[{"given":"Tanya L.","family":"Butler","sequence":"first","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]},{"name":"University of Sydney","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgia","family":"Esposito","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gillian M.","family":"Blue","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew D.","family":"Cole","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro W.","family":"Costa","sequence":"additional","affiliation":[{"name":"Victor Chang Cardiac Research Institute","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leigh B.","family":"Waddell","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gina","family":"Walizada","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary F.","family":"Sholler","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]},{"name":"University of Sydney","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin P.","family":"Kirk","sequence":"additional","affiliation":[{"name":"Sydney Children's Hospital","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Feneley","sequence":"additional","affiliation":[{"name":"Victor Chang Cardiac Research Institute","place":["Australia"]},{"name":"St. Vincent's Hospital","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard P.","family":"Harvey","sequence":"additional","affiliation":[{"name":"Victor Chang Cardiac Research Institute","place":["Australia"]},{"name":"University of New South Wales","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David S.","family":"Winlaw","sequence":"additional","affiliation":[{"name":"The Children's Hospital at Westmead","place":["Australia"]},{"name":"University of Sydney","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,9,27]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-3-3"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg775"},{"key":"e_1_3_3_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkg616"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.875201"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1177\/147323000703500609"},{"key":"e_1_3_3_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00420-0"},{"key":"e_1_3_3_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.058776"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.4.432"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.415"},{"key":"e_1_3_3_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_3_3_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(02)01886-7"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/519530"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/83762"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R000029200"},{"key":"e_1_3_3_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81573-1"},{"key":"e_1_3_3_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9410"},{"key":"e_1_3_3_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018895"},{"key":"e_1_3_3_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201023"},{"key":"e_1_3_3_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yjmcc.2007.06.004"},{"key":"e_1_3_3_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_3_3_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026740"},{"key":"e_1_3_3_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31652"},{"key":"e_1_3_3_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0012-1606(03)00306-3"},{"key":"e_1_3_3_26_1","first-page":"134","article-title":"Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects","volume":"23","author":"Tang ZH","year":"2006","unstructured":"Tang ZH, , Xia L, , Chang W et al. 2006. Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 23:134-137.","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_3_3_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehl560"},{"key":"e_1_3_3_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052183"},{"key":"e_1_3_3_29_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.2006.10.277"},{"key":"e_1_3_3_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.06.005"},{"key":"e_1_3_3_31_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0366-6999.2009.04.0011"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2010.0028","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0028","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2010.0028","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:15Z","timestamp":1777447275000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2010.0028"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,27]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12,1]]}},"alternative-id":["10.1089\/gtmb.2010.0028"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2010.0028","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,27]]}}}