{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:07:32Z","timestamp":1777370852643,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["181931"],"award-info":[{"award-number":["181931"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. The relevance of<jats:italic>TBX20<\/jats:italic>gene in heart development has been demonstrated in many animal models, but there are few works that try to elucidate the effect of<jats:italic>TBX20<\/jats:italic>mutations in human congenital heart diseases. In these studies, all missense mutations associated with atrial septal defect (ASD) were found in the DNA-binding T-box domain, none in the transcriptional activator domain.<jats:italic>Methods<\/jats:italic>. We search for<jats:italic>TBX20<\/jats:italic>mutations in a group of patients with ASD or ventricular septal defect (VSD) using the High Resolution Melting (HRM) method and DNA sequencing.<jats:italic>Results<\/jats:italic>. We report three missense mutations (Y309D, T370O, and M395R) within the transcriptional activator domain of human TBX20 that were associated with ASD.<jats:italic>Conclusions<\/jats:italic>. This is the first association of TBX20 transcriptional activator domain missense mutations with ASD. These findings could have implications for diagnosis, genetic screening, and patient follow-up.<\/jats:p>","DOI":"10.1155\/2015\/718786","type":"journal-article","created":{"date-parts":[[2015,3,5]],"date-time":"2015-03-05T16:02:29Z","timestamp":1425571349000},"page":"1-7","source":"Crossref","is-referenced-by-count":14,"title":["<i>Novel Mutations<\/i>in the Transcriptional Activator Domain of the Human TBX20 in Patients with Atrial Septal Defect"],"prefix":"10.1155","volume":"2015","author":[{"given":"Irma Eloisa","family":"Monroy-Mu\u00f1oz","sequence":"first","affiliation":[{"name":"Department of Molecular Biology, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, 14080 Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4786-508X","authenticated-orcid":true,"given":"Nonanzit","family":"P\u00e9rez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology, Instituto 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J.","family":"Garc\u00eda-Trejo","sequence":"additional","affiliation":[{"name":"Department of Biology, Chemistry Faculty, Universidad Nacional Aut\u00f3noma de M\u00e9xico, 04510 Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Morales-R\u00edos","sequence":"additional","affiliation":[{"name":"Department of Biology, Chemistry Faculty, Universidad Nacional Aut\u00f3noma de M\u00e9xico, 04510 Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felipe","family":"Mass\u00f3","sequence":"additional","affiliation":[{"name":"Department of Physiology, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, 14080 Mexico City, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Pablo","family":"Sandoval-Jones","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology, Instituto Nacional de Cardiolog\u00eda Ignacio Ch\u00e1vez, 14080 Mexico City, 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