{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:26:07Z","timestamp":1790835967640,"version":"4.1.0"},"reference-count":52,"publisher":"Spandidos Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.3892\/ijmm.2015.2436","type":"journal-article","created":{"date-parts":[[2015,12,15]],"date-time":"2015-12-15T10:12:58Z","timestamp":1450174378000},"page":"445-451","source":"Crossref","is-referenced-by-count":52,"title":["A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot"],"prefix":"10.3892","volume":"37","author":[{"given":"CAI-XIA","family":"LU","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HAI-RONG","family":"GONG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XING-YUAN","family":"LIU","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":"RI-TAI","family":"HUANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SONG","family":"XUE","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YI-QING","family":"YANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2015,12,15]]},"reference":[{"key":"key20180107234455_b1-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1161\/CIRCRESAHA.112.300853","article-title":"Genetics of congenital heart disease: The glass half empty","volume":"112","author":"Fahed","year":"2013","journal-title":"Circ Res"},{"key":"key20180107234455_b2-ijmm-37-02-0445","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":"key20180107234455_b3-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1161\/CIRCULATIONAHA.113.008396","article-title":"Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010","volume":"130","author":"Marelli","year":"2014","journal-title":"Circulation"},{"key":"key20180107234455_b4-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"e29","DOI":"10.1161\/CIR.0000000000000152","article-title":"Heart disease and stroke statistics\u20132015 update: A report from the American Heart Association","volume":"131","author":"Mozaffarian","year":"2015","journal-title":"Circulation"},{"key":"key20180107234455_b5-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1007\/s00246-015-1129-1","article-title":"Exercise capacity in children and adolescents with corrected congenital heart disease","volume":"36","author":"Feltez","year":"2015","journal-title":"Pediatr Cardiol"},{"key":"key20180107234455_b6-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/s00246-015-1132-6","article-title":"Fetal growth and neuro-developmental outcome in congenital heart disease","volume":"36","author":"Williams","year":"2015","journal-title":"Pediatr Cardiol"},{"key":"key20180107234455_b7-ijmm-37-02-0445","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":"key20180107234455_b8-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1016\/j.amjcard.2013.11.065","article-title":"Relation of prenatal diagnosis with one-year survival rate for infants with congenital heart disease","volume":"113","author":"Wright","year":"2014","journal-title":"Am J Cardiol"},{"key":"key20180107234455_b9-ijmm-37-02-0445","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":"key20180107234455_b10-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1007\/s00246-014-1053-9","article-title":"The prevalence of arrhythmias, predictors for arrhythmias, and safety of exercise stress testing in children","volume":"36","author":"Ghosh","year":"2015","journal-title":"Pediatr Cardiol"},{"key":"key20180107234455_b11-ijmm-37-02-0445","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":"key20180107234455_b12-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1038\/35025190","article-title":"A genetic blueprint for cardiac development","volume":"407","author":"Srivastava","year":"2000","journal-title":"Nature"},{"key":"key20180107234455_b13-ijmm-37-02-0445","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":"key20180107234455_b14-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"695","DOI":"10.3892\/mmr.2013.1847","article-title":"Influence of genes and the environment in familial congenital heart defects","volume":"9","author":"Wang","year":"2014","journal-title":"Mol Med Rep"},{"key":"key20180107234455_b15-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1891","DOI":"10.1016\/j.amjcard.2014.09.028","article-title":"A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve","volume":"114","author":"Qu","year":"2014","journal-title":"Am J Cardiol"},{"key":"key20180107234455_b16-ijmm-37-02-0445","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":"key20180107234455_b17-ijmm-37-02-0445","first-page":"5745","article-title":"UK10K Consortium, Wilson DI, Mital S and Hurles ME: Rare variants in NR2F2 cause congenital heart defects in humans","volume":"94","author":"Al Turki","year":"2014","journal-title":"Am J Hum Genet"},{"key":"key20180107234455_b18-ijmm-37-02-0445","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":"key20180107234455_b19-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1002\/humu.22688","article-title":"Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease","volume":"35","author":"Werner","year":"2014","journal-title":"Hum Mutat"},{"key":"key20180107234455_b20-ijmm-37-02-0445","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":"key20180107234455_b21-ijmm-37-02-0445","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":"key20180107234455_b22-ijmm-37-02-0445","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":"key20180107234455_b23-ijmm-37-02-0445","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":"key20180107234455_b24-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ajhg.2014.12.025","article-title":"Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation","volume":"96","author":"Racedo","year":"2015","journal-title":"Am J Hum Genet"},{"key":"key20180107234455_b25-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1058","DOI":"10.3892\/ijmm.2015.2077","article-title":"TBX20 loss-of-function mutation contributes to double outlet right ventricle","volume":"35","author":"Pan","year":"2015","journal-title":"Int J Mol Med"},{"key":"key20180107234455_b26-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/B978-0-12-387786-4.00008-7","article-title":"Transcription factor pathways and congenital heart disease","volume":"100","author":"McCulley","year":"2012","journal-title":"Curr Top Dev Biol"},{"key":"key20180107234455_b27-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/bdra.20796","article-title":"Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects","volume":"91","author":"Vincentz","year":"2011","journal-title":"Birth Defects Res A Clin Mol Teratol"},{"key":"key20180107234455_b28-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1093\/hmg\/ddn027","article-title":"A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts","volume":"17","author":"Reamon-Buettner","year":"2008","journal-title":"Hum Mol Genet"},{"key":"key20180107234455_b29-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1093\/hmg\/ddp305","article-title":"A functional genetic study identifies HAND1 mutations in septation defects of the human heart","volume":"18","author":"Reamon-Buettner","year":"2009","journal-title":"Hum Mol Genet"},{"key":"key20180107234455_b30-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.cca.2011.10.014","article-title":"Two novel HAND1 mutations in Chinese patients with ventricular septal defect","volume":"413","author":"Cheng","year":"2012","journal-title":"Clin Chim Acta"},{"key":"key20180107234455_b31-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1006\/dbio.1998.8849","article-title":"The bHLH factors, dHAND and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness","volume":"196","author":"Thomas","year":"1998","journal-title":"Dev Biol"},{"key":"key20180107234455_b32-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1016\/S0006-291X(02)02297-0","article-title":"HAND1 and HAND2 are expressed in the adult-rodent heart and are modulated during cardiac hypertrophy","volume":"297","author":"Thattaliyath","year":"2002","journal-title":"Biochem Biophys Res Commun"},{"key":"key20180107234455_b33-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1995","DOI":"10.1126\/science.270.5244.1995","article-title":"A subclass of bHLH proteins required for cardiac morphogenesis","volume":"270","author":"Srivastava","year":"1995","journal-title":"Science"},{"key":"key20180107234455_b34-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/ng0697-154","article-title":"Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND","volume":"16","author":"Srivastava","year":"1997","journal-title":"Nat Genet"},{"key":"key20180107234455_b35-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1242\/dev.01562","article-title":"The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner","volume":"132","author":"McFadden","year":"2005","journal-title":"Development"},{"key":"key20180107234455_b36-ijmm-37-02-0445","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":"key20180107234455_b37-ijmm-37-02-0445","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":"key20180107234455_b38-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"763","DOI":"10.3892\/ijmm.2014.2050","article-title":"GATA5 loss-of-function mutation in familial dilated cardiomyopathy","volume":"35","author":"Zhang","year":"2015","journal-title":"Int J Mol Med"},{"key":"key20180107234455_b39-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1007\/s00268-009-0296-8","article-title":"Tetralogy of fallot: Yesterday and today","volume":"34","author":"Starr","year":"2010","journal-title":"World J Surg"},{"key":"key20180107234455_b40-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1016\/S0167-4781(98)00237-1","article-title":"Molecular cloning of the human HAND2 gene","volume":"1443","author":"Russell","year":"1998","journal-title":"Biochim Biophys Acta"},{"key":"key20180107234455_b41-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"12604","DOI":"10.1074\/jbc.M200283200","article-title":"The basic helix-loop-helix factor, HAND2, functions as a transcriptional activator by binding to E-boxes as a heterodimer","volume":"277","author":"Dai","year":"2002","journal-title":"J Biol Chem"},{"key":"key20180107234455_b42-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"24390","DOI":"10.1074\/jbc.M202490200","article-title":"The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism","volume":"277","author":"Dai","year":"2002","journal-title":"J Biol Chem"},{"key":"key20180107234455_b43-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1335","DOI":"10.1006\/jmcc.2002.2085","article-title":"The basic-helix-loop-helix transcription factor HAND2 directly regulates transcription of the atrial naturetic peptide gene","volume":"34","author":"Thattaliyath","year":"2002","journal-title":"J Mol Cell Cardiol"},{"key":"key20180107234455_b44-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"54258","DOI":"10.1074\/jbc.M408502200","article-title":"Cooperative interaction between the basic helix-loop-helix transcription factor dHAND and myocyte enhancer factor 2C regulates myocardial gene expression","volume":"279","author":"Zang","year":"2004","journal-title":"J Biol Chem"},{"key":"key20180107234455_b45-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1255","DOI":"10.1002\/jcb.20225","article-title":"Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C","volume":"93","author":"Zang","year":"2004","journal-title":"J Cell Biochem"},{"key":"key20180107234455_b46-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"2573","DOI":"10.1242\/dev.127.12.2573","article-title":"The bHLH transcription factor hand2 plays parallel roles in zebrafish heart and pectoral fin development","volume":"127","author":"Yelon","year":"2000","journal-title":"Development"},{"key":"key20180107234455_b47-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"3215","DOI":"10.1242\/dev.052225","article-title":"Hand2 ensures an appropriate environment for cardiac fusion by limiting Fibronectin function","volume":"137","author":"Garavito-Aguilar","year":"2010","journal-title":"Development"},{"key":"key20180107234455_b48-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1161\/CIRCRESAHA.108.180083","article-title":"Cardiac neural crest expression of Hand2 regulates outflow and second heart field development","volume":"103","author":"Morikawa","year":"2008","journal-title":"Circ Res"},{"key":"key20180107234455_b49-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.ydbio.2010.12.023","article-title":"Hand2 function in second heart field progenitors is essential for cardiogenesis","volume":"351","author":"Tsuchihashi","year":"2011","journal-title":"Dev Biol"},{"key":"key20180107234455_b50-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"2071","DOI":"10.1016\/j.celrep.2014.11.021","article-title":"Hand2 is an essential regulator for two Notch-dependent functions within the embryonic endocardium","volume":"9","author":"VanDusen","year":"2014","journal-title":"Cell Rep"},{"key":"key20180107234455_b51-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"2471","DOI":"10.1093\/hmg\/ddt099","article-title":"Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q","volume":"22","author":"Tamura","year":"2013","journal-title":"Hum Mol Genet"},{"key":"key20180107234455_b52-ijmm-37-02-0445","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.3760\/cma.j.issn.0366-6999.2010.13.002","article-title":"Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease","volume":"123","author":"Shen","year":"2010","journal-title":"Chin Med J (Engl)"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2015.2436\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T02:30:20Z","timestamp":1718245820000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2015.2436"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,15]]},"references-count":52,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,12,15]]},"published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.3892\/ijmm.2015.2436"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2015.2436","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,15]]}}}