{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:02:42Z","timestamp":1762542162304},"reference-count":38,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2013,7,1]],"date-time":"2013-07-01T00:00:00Z","timestamp":1372636800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["jmmc-online.com","clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Molecular and Cellular Cardiology"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1016\/j.yjmcc.2013.04.002","type":"journal-article","created":{"date-parts":[[2013,4,17]],"date-time":"2013-04-17T01:09:11Z","timestamp":1366160951000},"page":"84-89","update-policy":"http:\/\/dx.doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"C","title":["Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects"],"prefix":"10.1016","volume":"60","author":[{"given":"Saverio","family":"Sabina","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Pulignani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Rizzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Cresci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"Vecoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilenia","family":"Foffa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Ait-Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Pitto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Grazia","family":"Andreassi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.yjmcc.2013.04.002_bb0005","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","article-title":"Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics","volume":"115","author":"Pierpont","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0010","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1007\/s00392-009-0095-0","article-title":"Molecular genetics of congenital atrial septal defects","volume":"99","author":"Posch","year":"2010","journal-title":"Clin Res Cardiol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0015","doi-asserted-by":"crossref","first-page":"2995","DOI":"10.1161\/CIRCULATIONAHA.106.183216","article-title":"Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics","volume":"115","author":"Jenkins","year":"2007","journal-title":"Circulation"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0020","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1016\/j.semcdb.2006.12.005","article-title":"The genetics of cardiac birth defects","volume":"18","author":"Ransom","year":"2007","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0025","doi-asserted-by":"crossref","first-page":"91","DOI":"10.2174\/157340310791162703","article-title":"Genetics of congenital heart disease","volume":"6","author":"Richards","year":"2010","journal-title":"Curr Cardiol Rev"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0030","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1749-6632.2010.05791.x","article-title":"Impact of Mendelian inheritance in cardiovascular disease","volume":"1214","author":"McBride","year":"2010","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0035","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1016\/j.amjcard.2011.07.022","article-title":"Maternal and paternal environmental risk factors, metabolizing GSTM1 and GSTT1 polymorphisms, and congenital heart disease","volume":"108","author":"Cresci","year":"2011","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0040","doi-asserted-by":"crossref","first-page":"2072","DOI":"10.1016\/S0735-1097(03)00420-0","article-title":"Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome","volume":"41","author":"Elliott","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0045","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1016\/j.jacc.2003.05.004","article-title":"NKX2.5 mutations in patients with congenital heart disease","volume":"42","author":"McElhinney","year":"2003","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0050","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":"10.1016\/j.yjmcc.2013.04.002_bb0055","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1002\/ajmg.a.31652","article-title":"Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease","volume":"143A","author":"Schluterman","year":"2007","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0060","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1002\/ajmg.a.32042","article-title":"Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects","volume":"146A","author":"Posch","year":"2008","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0065","doi-asserted-by":"crossref","first-page":"2117","DOI":"10.1016\/S0002-9440(10)63770-4","article-title":"Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations","volume":"164","author":"Reamon-Buettner","year":"2004","journal-title":"Am J Pathol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0070","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1136\/jmg.2003.017483","article-title":"Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease","volume":"41","author":"Reamon-Buettner","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0075","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1136\/jmg.2006.040907","article-title":"Somatic mutations in cardiac malformations","volume":"43","author":"Reamon-Buettner","year":"2006","journal-title":"J Med Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0080","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1471-2350-8-38","article-title":"Mutations in the 3\u2032-untraslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)","volume":"8","author":"Reamon-Buettner","year":"2007","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0085","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1136\/jmg.2008.060277","article-title":"Investigation of somatic NKX2-5 mutations in congenital heart disease","volume":"46","author":"Draus","year":"2009","journal-title":"J Med Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0090","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1097\/PAT.0b013e32834635a9","article-title":"Investigation of somatic NKX2.5, GATA4 and HAND1 mutations in patients with Tetralogy of Fallot","volume":"43","author":"Wang","year":"2011","journal-title":"Pathology"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0095","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1016\/j.ejmg.2011.01.004","article-title":"Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects","volume":"54","author":"Salazar","year":"2011","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0100","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1002\/ajmg.a.34187","article-title":"Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of Tetralogy of Fallot or hypoplastic left heart","volume":"155A","author":"Esposito","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0105","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nature03817","article-title":"Serum response factor regulates a muscle-specific microRNA that targets Hand2 during cardiogenesis","volume":"436","author":"Zhao","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0110","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.cell.2007.03.030","article-title":"Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2","volume":"129","author":"Zhao","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0115","doi-asserted-by":"crossref","first-page":"17830","DOI":"10.1073\/pnas.0804673105","article-title":"microRNA-138 modulates cardiac patterning during embryonic development","volume":"105","author":"Morton","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0120","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/bdrc.20067","article-title":"Computational identification of microRNAs and their targets","volume":"78","author":"Yoon","year":"2006","journal-title":"Birth Defects Res C Embryo Today"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0125","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1161\/CIRCULATIONAHA.109.878637","article-title":"Heart malformation: what are the chances it could happen again?","volume":"120","author":"Shieh","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0130","doi-asserted-by":"crossref","first-page":"e183","DOI":"10.1016\/j.carpath.2009.06.008","article-title":"Molecular mechanisms of congenital heart disease","volume":"19","author":"Huang","year":"2010","journal-title":"Cardiovasc Pathol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0135","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/humu.21349","article-title":"MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets","volume":"31","author":"Barenboim","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0140","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.semcdb.2010.01.004","article-title":"Computational methods to identify miRNA targets","volume":"21","author":"Hammell","year":"2010","journal-title":"Semin Cell Dev Biol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0145","doi-asserted-by":"crossref","first-page":"W70","DOI":"10.1093\/nar\/gkn188","article-title":"The Vienna RNA website","volume":"36","author":"Gruber","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0150","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1007\/978-1-60761-863-8_14","article-title":"Prediction of the biological effect of polymorphisms within microRNA binding sites","volume":"676","author":"Landi","year":"2011","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0155","doi-asserted-by":"crossref","first-page":"ra29","DOI":"10.1126\/scisignal.2000594","article-title":"Identification of the miR-106b~25 microRNA cluster as a proto-oncogenic PTEN-targeting intron that cooperates with its host gene MCM7 in transformation","volume":"3","author":"Poliseno","year":"2010","journal-title":"Sci Signal"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0160","doi-asserted-by":"crossref","first-page":"3687","DOI":"10.1073\/pnas.0511155103","article-title":"The colorectal microRNAome","volume":"103","author":"Cummins","year":"2006","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0165","doi-asserted-by":"crossref","first-page":"5687","DOI":"10.1093\/emboj\/16.18.5687","article-title":"The cardiac transcription factors Nkx2-5 and GATA-4 are mutual cofactors","volume":"16","author":"Durocher","year":"1997","journal-title":"EMBO J"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0170","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2010.01435.x","article-title":"Genetic factors non-syndromic congenital heart malformations","volume":"78","author":"Wessel","year":"2010","journal-title":"Clin Genet"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0175","doi-asserted-by":"crossref","first-page":"1922","DOI":"10.1126\/science.1132292","article-title":"Gene regulatory networks in the evolution and development of the heart","volume":"313","author":"Olson","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0180","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1161\/CIRCULATIONAHA.110.961227","article-title":"Paradigm of genetic mosaicism and lone atrial fibrillation: physiological characterization of a connexin 43-deletion mutant identified from atrial tissue","volume":"122","author":"Thibodeau","year":"2010","journal-title":"Circulation"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0185","doi-asserted-by":"crossref","first-page":"910769","DOI":"10.1155\/2011\/910769","article-title":"The influence of 3\u2032UTRs on microRNA function inferred from human SNP data","volume":"2011","author":"Hu","year":"2011","journal-title":"Comp Funct Genom"},{"key":"10.1016\/j.yjmcc.2013.04.002_bb0190","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1152\/physiolgenomics.90254.2008","article-title":"MicroRNA and cardiac pathologies","volume":"34","author":"Latronico","year":"2008","journal-title":"Physiol Genomics"}],"container-title":["Journal of Molecular and Cellular Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022282813001338?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022282813001338?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,16]],"date-time":"2018-10-16T23:52:46Z","timestamp":1539733966000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022282813001338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,7]]},"references-count":38,"alternative-id":["S0022282813001338"],"URL":"https:\/\/doi.org\/10.1016\/j.yjmcc.2013.04.002","relation":{},"ISSN":["0022-2828"],"issn-type":[{"value":"0022-2828","type":"print"}],"subject":[],"published":{"date-parts":[[2013,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline hereditary, somatic mutations and microRNAs targeting-SNPs in congenital heart defects","name":"articletitle","label":"Article Title"},{"value":"Journal of Molecular and Cellular Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yjmcc.2013.04.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}