{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T04:28:09Z","timestamp":1788496089980,"version":"build-2803163510"},"reference-count":79,"publisher":"Spandidos Publications","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,4]]},"DOI":"10.3892\/ijmm.2015.2077","type":"journal-article","created":{"date-parts":[[2015,1,22]],"date-time":"2015-01-22T09:09:16Z","timestamp":1421917756000},"page":"1058-1066","source":"Crossref","is-referenced-by-count":37,"title":["TBX20 loss-of-function mutation contributes to double outlet right ventricle"],"prefix":"10.3892","volume":"35","author":[{"given":"YUN","family":"PAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RUI","family":"GENG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NING","family":"ZHOU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GUI-FEN","family":"ZHENG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HONG","family":"ZHAO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JUAN","family":"WANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"CUI-MEI","family":"ZHAO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XING-BIAO","family":"QIU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YI-QING","family":"YANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XING-YUAN","family":"LIU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2015,1,22]]},"reference":[{"key":"key20180107230336_b1-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"e28","DOI":"10.1161\/01.cir.0000441139.02102.80","article-title":"Heart disease and stroke statistics - 2014 update: a report from the American Heart Association","volume":"129","author":"Go","year":"2014","journal-title":"Circulation"},{"key":"key20180107230336_b2-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.jacc.2011.08.025","article-title":"Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis","volume":"58","author":"van der Linde","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"key20180107230336_b3-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1016\/j.amjcard.2013.07.028","article-title":"Prevalence of symptomatic congenital heart disease in Tibetan school children","volume":"112","author":"Zheng","year":"2013","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b4-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ijcard.2014.06.008","article-title":"Reduced health-related quality of life in older patients with congenital heart disease: a cross sectional study in 2360 patients","volume":"175","author":"M\u00fcller","year":"2014","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b5-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1007\/s00246-013-0820-3","article-title":"Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects","volume":"35","author":"Garcia Guerra","year":"2014","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b6-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1016\/j.amjcard.2013.08.003","article-title":"Effects of inhaled iloprost on exercise capacity, quality of life, and cardiac function in patients with pulmonary arterial hypertension secondary to congenital heart disease (the Eisenmenger syndrome) (from the EIGER Study)","volume":"112","author":"Cha","year":"2013","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b7-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ijcard.2014.03.002","article-title":"Improved exercise performance and quality of life after percutaneous pulmonary valve implantation","volume":"173","author":"M\u00fcller","year":"2014","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b8-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/uog.12526","article-title":"Brain abnormalities and neurodevelopmental delay in congenital heart disease: systematic review and meta-analysis","volume":"43","author":"Khalil","year":"2014","journal-title":"Ultrasound Obstet Gynecol"},{"key":"key20180107230336_b9-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1772","DOI":"10.1007\/s00246-013-0712-6","article-title":"Multi-tiered analysis of brain injury in neonates with congenital heart disease","volume":"34","author":"Mulkey","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b10-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2622","DOI":"10.1161\/01.cir.0000436140.77832.7a","article-title":"Prevention and treatment of thrombosis in pediatric and congenital heart disease: a scientific statement from the American Heart Association","volume":"128","author":"Giglia","year":"2013","journal-title":"Circulation"},{"key":"key20180107230336_b11-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1161\/CIRCULATIONAHA.113.001827","article-title":"Infective endocarditis in children with congenital heart disease: cumulative incidence and predictors","volume":"128","author":"Rushani","year":"2013","journal-title":"Circulation"},{"key":"key20180107230336_b12-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1007\/s00246-012-0571-6","article-title":"Subclinical hypothyroidism in grown-up congenital heart disease patients","volume":"34","author":"Martinez-Quintana","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b13-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.ijcard.2014.04.072","article-title":"Contemporary prevalence of pulmonary arterial hypertension in adult congenital heart disease following the updated clinical classification","volume":"174","author":"van Riel","year":"2014","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b14-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/j.amjcard.2013.09.032","article-title":"Four- and seven-year outcomes of patients with congenital heart disease-associated pulmonary arterial hypertension (from the REVEAL Registry)","volume":"113","author":"Barst","year":"2014","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b15-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/eurheartj\/eht437","article-title":"Pulmonary hypertension related to congenital heart disease: a call for action","volume":"35","author":"Dimopoulos","year":"2014","journal-title":"Eur Heart J"},{"key":"key20180107230336_b16-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.amjcard.2012.09.026","article-title":"Left ventricular diastolic function in children and young adults with congenital aortic valve disease","volume":"111","author":"Friedman","year":"2013","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b17-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1007\/s00246-013-0819-9","article-title":"Altered right ventricular function in the long-term follow-up evaluation of patients after delayed aortic reimplantation of the anomalous left coronary artery from the pulmonary artery","volume":"35","author":"Schuck","year":"2014","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b18-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2487","DOI":"10.1016\/j.ijcard.2013.03.003","article-title":"Heart failure admissions in adults with congenital heart disease; risk factors and prognosis","volume":"168","author":"Zomer","year":"2013","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b19-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1016\/j.amjcard.2013.11.043","article-title":"Usefulness of the Seattle Heart Failure Model to identify adults with congenital heart disease at high risk of poor outcome","volume":"113","author":"Stefanescu","year":"2014","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b20-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.hfc.2013.09.017","article-title":"Heart failure in congenital heart disease: a confluence of acquired and congenital","volume":"10","author":"Fahed","year":"2014","journal-title":"Heart Fail Clin"},{"key":"key20180107230336_b21-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2481","DOI":"10.1016\/j.ijcard.2013.03.004","article-title":"Substrates of atrial arrhythmias: histological insights from patients with congenital heart disease","volume":"168","author":"Ueda","year":"2013","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b22-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1097\/HCO.0b013e32835fb7c2","article-title":"Arrhythmias in adult congenital heart disease: the year in review","volume":"28","author":"Mond\u00e9sert","year":"2013","journal-title":"Curr Opin Cardiol"},{"key":"key20180107230336_b23-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.amjcard.2014.05.019","article-title":"Prevalence of arrhythmias during exercise stress testing in patients with congenital heart disease and severe right ventricular conduit dysfunction","volume":"114","author":"Priromprintr","year":"2014","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b24-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"e102","DOI":"10.1016\/j.hrthm.2014.05.009","article-title":"PACES\/HRS Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease: developed in partnership between the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS). Endorsed by the governing bodies of PACES, HRS, the American College of Cardiology (ACC), the American Heart Association (AHA), the European Heart Rhythm Association (EHRA), the Canadian Heart Rhythm Society (CHRS), and the International Society for Adult Congenital Heart Disease (ISACHD)","volume":"11","author":"Khairy","year":"2014","journal-title":"Heart Rhythm"},{"key":"key20180107230336_b25-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1016\/j.amjcard.2013.01.309","article-title":"A 43- to 54-year follow-up of 1,000 patients with congenital heart disease","volume":"111","author":"Moller","year":"2013","journal-title":"Am J Cardiol"},{"key":"key20180107230336_b26-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1944","DOI":"10.1161\/CIRCULATIONAHA.112.104786","article-title":"Sudden cardiac death in adult congenital heart disease","volume":"126","author":"Koyak","year":"2012","journal-title":"Circulation"},{"key":"key20180107230336_b27-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1016\/j.hrthm.2014.07.021","article-title":"Sudden death in adult congenital heart disease: risk stratification in 2014","volume":"11","author":"Walsh","year":"2014","journal-title":"Heart Rhythm"},{"key":"key20180107230336_b28-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1038\/nrcardio.2010.166","article-title":"The changing epidemiology of congenital heart disease","volume":"8","author":"van der Bom","year":"2011","journal-title":"Nat Rev Cardiol"},{"key":"key20180107230336_b29-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1016\/j.jacc.2010.03.085","article-title":"Changing mortality in congenital heart disease","volume":"56","author":"Khairy","year":"2010","journal-title":"J Am Coll Cardiol"},{"key":"key20180107230336_b30-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"872","DOI":"10.1136\/hrt.2009.185595","article-title":"The emerging burden of hospital admissions of adults with congenital heart disease","volume":"96","author":"Verheugt","year":"2010","journal-title":"Heart"},{"key":"key20180107230336_b31-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1007\/s00246-013-0775-4","article-title":"Nongenetic risk factors and congenital heart defects","volume":"34","author":"Patel","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b32-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1007\/s00246-014-0870-1","article-title":"Potential effects of environmental chemical contamination in congenital heart disease","volume":"35","author":"Gorini","year":"2014","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b33-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1132","DOI":"10.1007\/s00246-014-0906-6","article-title":"Maternal medication use, fetal 3435 C>T polymorphism of the ABCB1 gene, and risk of isolated septal defects in a Han Chinese population","volume":"35","author":"Wang","year":"2014","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b34-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1007\/s00018-013-1430-1","article-title":"Of mice and men: molecular genetics of congenital heart disease","volume":"71","author":"Andersen","year":"2014","journal-title":"Cell Mol Life Sci"},{"key":"key20180107230336_b35-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease","volume":"498","author":"Zaidi","year":"2013","journal-title":"Nature"},{"key":"key20180107230336_b36-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3892\/ijmm.2012.1188","article-title":"Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot","volume":"31","author":"Huang","year":"2013","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b37-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1662","DOI":"10.1002\/humu.22434","article-title":"GATA4 loss-of-function mutations underlie familial tetralogy of fallot","volume":"34","author":"Yang","year":"2013","journal-title":"Hum Mutat"},{"key":"key20180107230336_b38-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1089\/dna.2013.2185","article-title":"Prevalence and spectrum of PITX2c mutations associated with congenital heart disease","volume":"32","author":"Wang","year":"2013","journal-title":"DNA Cell Biol"},{"key":"key20180107230336_b39-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.ejmg.2013.09.001","article-title":"Mutational analysis of the human MESP1 gene in patients with congenital heart disease reveals a highly variable sequence in exon 1","volume":"56","author":"Lahm","year":"2013","journal-title":"Eur J Med Genet"},{"key":"key20180107230336_b40-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"976","DOI":"10.5114\/aoms.2013.39788","article-title":"Mutation spectrum of GATA4 associated with congenital atrial septal defects","volume":"9","author":"Yang","year":"2013","journal-title":"Arch Med Sci"},{"key":"key20180107230336_b41-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.bbrc.2013.09.023","article-title":"GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy","volume":"439","author":"Li","year":"2013","journal-title":"Biochem Biophys Res Commun"},{"key":"key20180107230336_b42-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.ijcard.2012.09.039","article-title":"Prevalence and spectrum of GATA5 mutations associated with congenital heart disease","volume":"165","author":"Jiang","year":"2013","journal-title":"Int J Cardiol"},{"key":"key20180107230336_b43-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1007\/s00246-012-0482-6","article-title":"GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect","volume":"34","author":"Wei","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b44-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.3892\/ijmm.2013.1316","article-title":"A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation","volume":"31","author":"Huang","year":"2013","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b45-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.7150\/ijms.6809","article-title":"PITX2c loss-of-function mutations responsible for congenital atrial septal defects","volume":"10","author":"Yuan","year":"2013","journal-title":"Int J Med Sci"},{"key":"key20180107230336_b46-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"34","DOI":"10.7150\/ijms.5270","article-title":"GATA5 loss-of-function mutations underlie tetralogy of fallot","volume":"10","author":"Wei","year":"2013","journal-title":"Int J Med Sci"},{"key":"key20180107230336_b47-ijmm-35-04-1058","first-page":"5745","article-title":"Rare variants in NR2F2 cause congenital heart defects in humans","volume":"94","author":"Al Turki","year":"2014","journal-title":"Am J Hum Genet"},{"key":"key20180107230336_b48-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"654","DOI":"10.3892\/ijmm.2013.1600","article-title":"A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy","volume":"33","author":"Zhao","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b49-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.3892\/ijmm.2014.1674","article-title":"Somatic GATA5 mutations in sporadic tetralogy of Fallot","volume":"33","author":"Huang","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b50-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.3892\/ijmm.2014.1700","article-title":"GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve","volume":"33","author":"Shi","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b51-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"743","DOI":"10.3892\/mmr.2014.2247","article-title":"Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects","volume":"10","author":"Wang","year":"2014","journal-title":"Mol Med Rep"},{"key":"key20180107230336_b52-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1016\/j.ejmg.2014.08.005","article-title":"Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease","volume":"57","author":"Zhao","year":"2014","journal-title":"Eur J Med Genet"},{"key":"key20180107230336_b53-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1002\/humu.22457","article-title":"Genetic and functional analyses of ZIC3 variants in congenital heart disease","volume":"35","author":"Cowan","year":"2014","journal-title":"Hum Mutat"},{"key":"key20180107230336_b54-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ejmg.2013.11.004","article-title":"A novel PITX2c loss-of-function mutation associated with familial atrial fibrillation","volume":"57","author":"Wang","year":"2014","journal-title":"Eur J Med Genet"},{"key":"key20180107230336_b55-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.3892\/ijmm.2014.1689","article-title":"Novel PITX2c loss-of-function mutations associated with complex congenital heart disease","volume":"33","author":"Wei","year":"2014","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b56-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"4897","DOI":"10.1242\/dev.02099","article-title":"T-box transcription factors and their roles in regulatory hierarchies in the developing heart","volume":"132","author":"Stennard","year":"2005","journal-title":"Development"},{"key":"key20180107230336_b57-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/S0012-1606(03)00385-3","article-title":"Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart","volume":"262","author":"Stennard","year":"2003","journal-title":"Dev Biol"},{"key":"key20180107230336_b58-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1242\/dev.01799","article-title":"Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation","volume":"132","author":"Stennard","year":"2005","journal-title":"Development"},{"key":"key20180107230336_b59-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.1242\/dev.01832","article-title":"T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis","volume":"132","author":"Cai","year":"2005","journal-title":"Development"},{"key":"key20180107230336_b60-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1242\/dev.01854","article-title":"Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2","volume":"132","author":"Singh","year":"2005","journal-title":"Development"},{"key":"key20180107230336_b61-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"2463","DOI":"10.1242\/dev.01827","article-title":"Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development","volume":"132","author":"Takeuchi","year":"2005","journal-title":"Development"},{"key":"key20180107230336_b62-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","article-title":"Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy","volume":"81","author":"Kirk","year":"2007","journal-title":"Am J Hum Genet"},{"key":"key20180107230336_b63-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1016\/j.ejmg.2008.09.001","article-title":"T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease","volume":"51","author":"Liu","year":"2008","journal-title":"Eur J Med Genet"},{"key":"key20180107230336_b64-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"19833","DOI":"10.1073\/pnas.0808705105","article-title":"Transcription factor neuromancer\/TBX20 is required for cardiac function in Drosophila with implications for human heart disease","volume":"105","author":"Qian","year":"2008","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180107230336_b65-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1136\/jmg.2009.069997","article-title":"A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects","volume":"47","author":"Posch","year":"2010","journal-title":"J Med Genet"},{"key":"key20180107230336_b66-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.gene.2012.03.055","article-title":"Genetic analysis of the TBX20 gene promoter region in patients with ventricular septal defects","volume":"500","author":"Qiao","year":"2012","journal-title":"Gene"},{"key":"key20180107230336_b67-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1631\/jzus.B1400062","article-title":"A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect","volume":"15","author":"Liu","year":"2014","journal-title":"J Zhejiang Univ Sci B"},{"key":"key20180107230336_b68-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"43","DOI":"10.3892\/ijmm.2012.1189","article-title":"A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation","volume":"31","author":"Wang","year":"2013","journal-title":"Int J Mol Med"},{"key":"key20180107230336_b69-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/dvdy.20201","article-title":"T-box genes and heart development: putting the \u2018T\u2019 in heart","volume":"232","author":"Plageman","year":"2005","journal-title":"Dev Dyn"},{"key":"key20180107230336_b70-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1126\/science.281.5373.108","article-title":"Congenital heart disease caused by mutations in the transcription factor NKX2-5","volume":"281","author":"Schott","year":"1998","journal-title":"Science"},{"key":"key20180107230336_b71-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.gene.2013.04.043","article-title":"Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects","volume":"524","author":"Huang","year":"2013","journal-title":"Gene"},{"key":"key20180107230336_b72-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1161\/CIRCGENETICS.113.000057","article-title":"Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy","volume":"6","author":"Costa","year":"2013","journal-title":"Circ Cardiovasc Genet"},{"key":"key20180107230336_b73-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1007\/s00246-014-0917-3","article-title":"Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia","volume":"35","author":"Perera","year":"2014","journal-title":"Pediatr Cardiol"},{"key":"key20180107230336_b74-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature01827","article-title":"GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5","volume":"424","author":"Garg","year":"2003","journal-title":"Nature"},{"key":"key20180107230336_b75-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.9410","article-title":"A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot","volume":"27","author":"Nemer","year":"2006","journal-title":"Hum Mutat"},{"key":"key20180107230336_b76-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.2007.052183","article-title":"GATA4 sequence variants in patients with congenital heart disease","volume":"44","author":"Tomita-Mitchell","year":"2007","journal-title":"J Med Genet"},{"key":"key20180107230336_b77-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.yjmcc.2007.06.004","article-title":"Spectrum of heart disease associated with murine and human GATA4 mutation","volume":"43","author":"Rajagopal","year":"2007","journal-title":"J Mol Cell Cardiol"},{"key":"key20180107230336_b78-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"e62138","DOI":"10.1371\/journal.pone.0062138","article-title":"Identification of functional mutations in GATA4 in patients with congenital heart disease","volume":"8","author":"Wang","year":"2013","journal-title":"PLoS One"},{"key":"key20180107230336_b79-ijmm-35-04-1058","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.gene.2013.10.028","article-title":"A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis","volume":"534","author":"Xiang","year":"2014","journal-title":"Gene"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2015.2077\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,20]],"date-time":"2019-08-20T00:20:21Z","timestamp":1566260421000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2015.2077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,22]]},"references-count":79,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2015,1,22]]},"published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.3892\/ijmm.2015.2077"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2015.2077","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,22]]}}}