{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:25:08Z","timestamp":1787505908439,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,3,12]],"date-time":"2007-03-12T00:00:00Z","timestamp":1173657600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Few known monogenic causes of non\u2010syndromic congenital heart disease (CHD) have been identified. Mutations in\n                    <jats:italic>NKX2.5<\/jats:italic>\n                    were initially implicated in familial cases of cardiac septal defects and subsequently, functionally significant\n                    <jats:italic>NKX2.5<\/jats:italic>\n                    mutations were found in diverse forms of non\u2010syndromic CHD. Similarly, mutations in\n                    <jats:italic>GATA4<\/jats:italic>\n                    , which encodes a cardiac transcription factor, were first identified in familial cases of cardiac septal defects. We hypothesize that individuals with non\u2010syndromic CHD may harbor\n                    <jats:italic>GATA4<\/jats:italic>\n                    mutations and that these mutations alter the biochemical properties of the protein. The coding region encompassing the six exons of\n                    <jats:italic>GATA4<\/jats:italic>\n                    was screened in a study population of 157 patients with CHD. We identified several sequence variations in\n                    <jats:italic>GATA4<\/jats:italic>\n                    . We tested these novel sequence variations that altered evolutionarily conserved amino acids and other previously reported\n                    <jats:italic>GATA4<\/jats:italic>\n                    mutations in various biochemical assays. The novel sequence variations had no biochemical deficits while a previously reported, but unstudied, missense mutation in\n                    <jats:italic>GATA4<\/jats:italic>\n                    (S52F) functioned as a hypomorph in transactivation assays. We did not identify any novel\n                    <jats:italic>GATA4<\/jats:italic>\n                    mutations in our patient population with non\u2010syndromic CHD. Consistent with previous findings,\n                    <jats:italic>GATA4<\/jats:italic>\n                    mutations that result in deficits in transactivation ability are consistently associated with CHD suggesting that normal transactivation properties of GATA4 are required for proper cardiac development. \u00a9 2007 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.31652","type":"journal-article","created":{"date-parts":[[2007,3,13]],"date-time":"2007-03-13T14:58:49Z","timestamp":1173797929000},"page":"817-823","source":"Crossref","is-referenced-by-count":48,"title":["Screening and biochemical analysis of\n                    <i>GATA4<\/i>\n                    sequence variations identified in patients with congenital heart disease"],"prefix":"10.1002","volume":"143A","author":[{"given":"Marie K.","family":"Schluterman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda 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