{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:56:46Z","timestamp":1790081806986,"version":"4.0.1"},"reference-count":69,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T00:00:00Z","timestamp":1532908800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,7,30]],"date-time":"2018-07-30T00:00:00Z","timestamp":1532908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fondazione Bambino Ges\u00f9","award":["CUoRE"],"award-info":[{"award-number":["CUoRE"]}]},{"name":"Italian Ministry of Health","award":["RF 2010 2310935"],"award-info":[{"award-number":["RF 2010 2310935"]}]},{"name":"Italian Ministry of Health","award":["RC 2016"],"award-info":[{"award-number":["RC 2016"]}]},{"name":"Research Council for Earth and Life Sciences with financial aid from the Netherlands Organisation for Scientific Research (NWO)","award":["ALW 819.02.021"],"award-info":[{"award-number":["ALW 819.02.021"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2018,10]]},"DOI":"10.1002\/humu.23593","type":"journal-article","created":{"date-parts":[[2018,7,14]],"date-time":"2018-07-14T15:23:35Z","timestamp":1531581815000},"page":"1428-1441","source":"Crossref","is-referenced-by-count":22,"title":["Heterozygous missense mutations in<i>NFATC1<\/i>are associated with atrioventricular septal defect"],"prefix":"10.1155","volume":"39","author":[{"given":"Rosangela","family":"Ferese","sequence":"first","affiliation":[{"name":"IRCCS Neuromed; Localita` Camerelle; 86077 Pozzilli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Bonetti","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and University Medical Center Utrecht; 3584CT Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Consoli","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Guida","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division; Bambino Ges\u00f9 Children Hospital; IRCCS; 00146 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology; Department of Pediatrics; \u201cSapienza\u201d University; 00161 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Gambardella","sequence":"additional","affiliation":[{"name":"IRCCS Neuromed; Localita` Camerelle; 86077 Pozzilli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulio","family":"Calcagni","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division; Bambino Ges\u00f9 Children Hospital; IRCCS; 00146 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Margiotti","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Piceci Sparascio","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Hozhabri","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"},{"name":"Department of Experimental Medicine; Sapienza University of Rome; 00161 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso","family":"Mazza","sequence":"additional","affiliation":[{"name":"Bioinformatics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division; Bambino Ges\u00f9 Children Hospital; IRCCS; 00146 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division; Bambino Ges\u00f9 Children Hospital; IRCCS; 00146 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division; Bambino Ges\u00f9 Children Hospital; IRCCS; 00146 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology; Department of Pediatrics; \u201cSapienza\u201d University; 00161 Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen den","family":"Hertog","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and University Medical Center Utrecht; 3584CT Utrecht The Netherlands"},{"name":"Institute of Biology; 2300RC Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4408-8062","authenticated-orcid":false,"given":"Alessandro","family":"De Luca","sequence":"additional","affiliation":[{"name":"Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital; IRCCS; 71013 San Giovanni Rotondo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,30]]},"reference":[{"key":"10.1002\/humu.23593-BIB0001|humu23593-cit-0001","doi-asserted-by":"crossref","first-page":"e49532","DOI":"10.1371\/journal.pone.0049532","article-title":"Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia","volume":"7","author":"Abdul-Sater","year":"2012","journal-title":"PLoS One"},{"key":"10.1002\/humu.23593-BIB0002|humu23593-cit-0002","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.ajhg.2014.03.007","article-title":"Rare variants in NR2F2 cause congenital heart defects in humans","volume":"94","author":"Al Turki","year":"2014","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23593-BIB0003|humu23593-cit-0003","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1007\/BF00223856","article-title":"22q11 deletions in isolated and syndromic patients with tetralogy of Fallot","volume":"95","author":"Amati","year":"1995","journal-title":"Human Genetics"},{"key":"10.1002\/humu.23593-BIB0004|humu23593-cit-0004","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":"Cellular and Molecular Life Sciences"},{"key":"10.1002\/humu.23593-BIB0005|humu23593-cit-0005","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1016\/j.gene.2017.10.044","article-title":"CRELD1 gene variants and atrioventricular septal defects in Down syndrome","volume":"641","author":"Asim","year":"2018","journal-title":"Gene"},{"key":"10.1002\/humu.23593-BIB0006|humu23593-cit-0006","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1126\/science.275.5308.1930","article-title":"Nuclear export of NF-ATc enhanced by glycogen synthase kinase-3","volume":"75","author":"Beals","year":"1997","journal-title":"Science (Washington, DC, United States)"},{"key":"10.1002\/humu.23593-BIB0007|humu23593-cit-0007","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/j.jacc.2016.11.060","article-title":"Advances in the genetics of congenital heart disease: A clinician's guide","volume":"69","author":"Blue","year":"2017","journal-title":"Journal of American College of Cardiology"},{"key":"10.1002\/humu.23593-BIB0008|humu23593-cit-0008","first-page":"3011","article-title":"Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms","volume":"25","author":"Burnicka-Turek","year":"2016","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/humu.23593-BIB0009|humu23593-cit-0009","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ijcard.2015.09.081","article-title":"Atrioventricular septal defect: From embryonic development to long-term follow-up","volume":"202","author":"Calkoen","year":"2016","journal-title":"International Journal of Cardiology"},{"key":"10.1002\/humu.23593-BIB0010|humu23593-cit-0010","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1023\/A:1025312603880","article-title":"Congenital heart defects: 15 years of experience of the Emilia-Romagna Registry (Italy)","volume":"18","author":"Calzolari","year":"2003","journal-title":"European Journal of Epidemiology"},{"key":"10.1002\/humu.23593-BIB0011|humu23593-cit-0011","first-page":"362","article-title":"Goldenhar's syndrome. Description of a case with cardiovascular abnormalities, right lung agenesis and situs viscerum inversus","volume":"22","author":"Caramia","year":"1970","journal-title":"Minerva Pediatricia"},{"key":"10.1002\/humu.23593-BIB0012|humu23593-cit-0012","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1016\/S0092-8674(00)80571-1","article-title":"Generic signals and specific outcomes: Signaling through Ca2+, calcineurin, and NF-AT","volume":"96","author":"Crabtree","year":"1999","journal-title":"Cell (Cambridge, MA, United States)"},{"issue":"Suppl","key":"10.1002\/humu.23593-BIB0013|humu23593-cit-0013","doi-asserted-by":"crossref","first-page":"S67","DOI":"10.1016\/S0092-8674(02)00699-2","article-title":"NFAT signaling: Choreographing the social lives of cells","volume":"109","author":"Crabtree","year":"2002","journal-title":"Cell (Cambridge, MA, United States)"},{"key":"10.1002\/humu.23593-BIB0014|humu23593-cit-0014","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1038\/gim.2015.60","article-title":"Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect","volume":"18","author":"D'Alessandro","year":"2016","journal-title":"Genet Med"},{"key":"10.1002\/humu.23593-BIB0015|humu23593-cit-0015","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/32419","article-title":"Role of the NF-ATc transcription factor in morphogenesis of cardiac valves and septum","volume":"392","author":"la Pompa","year":"1998","journal-title":"Nature (London, United Kingdom)"},{"key":"10.1002\/humu.23593-BIB0016|humu23593-cit-0016","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/hrt.2009.181685","article-title":"Familial transposition of the great arteries caused by multiple mutations in laterality genes","volume":"96","author":"Luca","year":"2010","journal-title":"Heart"},{"key":"10.1002\/humu.23593-BIB0017|humu23593-cit-0017","first-page":"1295","article-title":"Risk of congenital heart defects in relatives of patients with atrioventricular canal","volume":"147","author":"Digilio","year":"1993","journal-title":"American Journal of Disease of Children"},{"key":"10.1002\/humu.23593-BIB0018|humu23593-cit-0018","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/(SICI)1096-8628(19990716)85:2<140::AID-AJMG8>3.0.CO;2-A","article-title":"Atrioventricular canal defect without Down syndrome: A heterogeneous malformation","volume":"85","author":"Digilio","year":"1999","journal-title":"American Journal of Medical Genetics"},{"key":"10.1002\/humu.23593-BIB0019|humu23593-cit-0019","doi-asserted-by":"crossref","first-page":"1815","DOI":"10.1002\/ajmg.a.32407","article-title":"Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)","volume":"146A","author":"Digilio","year":"2008","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0020|humu23593-cit-0020","doi-asserted-by":"crossref","first-page":"2860","DOI":"10.1002\/ajmg.a.33034","article-title":"Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2","volume":"149A","author":"Digilio","year":"2009","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0021|humu23593-cit-0021","doi-asserted-by":"crossref","DOI":"10.1111\/cge.13375","article-title":"Atrioventricular canal defect and genetic syndromes: The unifying role of Sonic Hedgehog","author":"Digilio","year":"2018","journal-title":"Clinical Genetics"},{"key":"10.1002\/humu.23593-BIB0022|humu23593-cit-0022","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1016\/0002-9149(85)90998-1","article-title":"Two dimensional echocardiography in detection of endocardial cushion defect in families","volume":"55","author":"DiSegni","year":"1985","journal-title":"American J Cardiol"},{"key":"10.1002\/humu.23593-BIB0023|humu23593-cit-0023","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1002\/ajmg.a.36231","article-title":"Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum","volume":"164A","author":"Dos Santos","year":"2014","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0024|humu23593-cit-0024","first-page":"203","article-title":"Chromosome microarray analysis of patients with 18q deletion syndrome","volume":"33","author":"Feng","year":"2016","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"10.1002\/humu.23593-BIB0025|humu23593-cit-0025","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/oxfordjournals.aje.a113979","article-title":"Congenital heart disease: Prevalence at livebirth. The Baltimore-Washington Infant Study","volume":"121","author":"Ferencz","year":"1985","journal-title":"Americal Journal of Epidemiology"},{"key":"10.1002\/humu.23593-BIB0026|humu23593-cit-0026","first-page":"165","volume-title":"Genetic and environmental risks for major cardiovascular malformations: The Baltimore-Washington Infant Study 1981-1989","author":"Ferencz","year":"1997"},{"key":"10.1002\/humu.23593-BIB0027|humu23593-cit-0027","doi-asserted-by":"crossref","first-page":"2031","DOI":"10.1084\/jem.187.12.2031","article-title":"Nuclear factor of activated T cells (NFAT)-dependent transactivation regulated by the coactivators p300\/CREB-binding protein (CBP)","volume":"187","author":"Garc\u00eda-Rodr\u00edguez","year":"1998","journal-title":"Journal of Experimental Medicine"},{"key":"10.1002\/humu.23593-BIB0028|humu23593-cit-0028","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 (London, United Kingdom)"},{"key":"10.1002\/humu.23593-BIB0029|humu23593-cit-0029","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1161\/01.CIR.102.4.432","article-title":"Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects","volume":"102","author":"Giglio","year":"2000","journal-title":"Circulation"},{"key":"10.1002\/humu.23593-BIB0030|humu23593-cit-0030","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/S0022-3476(63)80233-4","article-title":"Oculoauriculovertebral dysplasia","volume":"63","author":"Gorlin","year":"1963","journal-title":"Journal of Pediatrics"},{"key":"10.1002\/humu.23593-BIB0031|humu23593-cit-0031","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1136\/jmg.37.8.581","article-title":"Detailed mapping of a congenital heart disease gene in chromosome 3p25","volume":"37","author":"Green","year":"2000","journal-title":"Journal of Medical Genetics"},{"key":"10.1002\/humu.23593-BIB0032|humu23593-cit-0032","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1007\/s10528-011-9434-8","article-title":"Association of a tandem repeat polymorphism in NFATc1 with increased risk of perimembranous ventricular septal defect in a Chinese population","volume":"49","author":"Gu","year":"2011","journal-title":"Biochemical Genetics"},{"key":"10.1002\/humu.23593-BIB0033|humu23593-cit-0033","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1007\/s12519-010-0235-7","article-title":"Novel CRELD1 gene mutations in patients with atrioventricular septal defect","volume":"6","author":"Guo","year":"2010","journal-title":"World Journal of Pediatrics"},{"key":"10.1002\/humu.23593-BIB0034|humu23593-cit-0034","first-page":"621","article-title":"Association between nuclear factor of activated T cells 1 gene mutation and simple congenital heart disease in children","volume":"38","author":"Han","year":"2010","journal-title":"Zhonghua Xin Xue Guan Bing Za Zhi"},{"key":"10.1002\/humu.23593-BIB0070|humu23593-cit-0070","doi-asserted-by":"crossref","first-page":"58","DOI":"10.3389\/fcvm.2017.00058","article-title":"A novel mutation in FOXC1 in a Lebanese family with congenital heart disease and anterior segment dysgenesis: Potential roles for NFATC1 and DPT in the phenotypic variations","volume":"4","author":"Khalil","year":"2017","journal-title":"Front Cardiovasc Med"},{"key":"10.1002\/humu.23593-BIB0035|humu23593-cit-0035","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1038\/ng.2892","article-title":"A general framework for estimating the relative pathogenicity of human genetic variants","volume":"46","author":"Kircher","year":"2014","journal-title":"Nature Genetics"},{"key":"10.1002\/humu.23593-BIB0036|humu23593-cit-0036","doi-asserted-by":"crossref","first-page":"2855","DOI":"10.1002\/ajmg.a.33119","article-title":"Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor","volume":"149A","author":"Lafay-Cousin","year":"2009","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0037|humu23593-cit-0037","first-page":"3441","article-title":"Correlation between NFATC1 gene polymorphisms and congenital heart disease in children","volume":"21","author":"Li","year":"2017","journal-title":"Eur Rev Med Pharmacol Sci"},{"key":"10.1002\/humu.23593-BIB0038|humu23593-cit-0038","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<88::AID-AJMG18>3.0.CO;2-O","article-title":"Anomalous inferior and superior venae cavae with oculoauriculovertebral defect: Review of Goldenhar complex and malformations of left-right asymmetry","volume":"75","author":"Lin","year":"1998","journal-title":"American Journal of Medical Genetics"},{"key":"10.1002\/humu.23593-BIB0039|humu23593-cit-0039","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1097\/00019605-199401000-00012","article-title":"Total situs inversus associated with the oculo-auriculo-vertebral spectrum","volume":"3","author":"Maat-Kievit","year":"1994","journal-title":"Clinical Dysmorphology"},{"key":"10.1002\/humu.23593-BIB0040|humu23593-cit-0040","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/nri1632","article-title":"NFAT proteins: Key regulators of T-cell development and function","volume":"5","author":"Macian","year":"2005","journal-title":"Nature Reviews Immunology"},{"key":"10.1002\/humu.23593-BIB0041|humu23593-cit-0041","doi-asserted-by":"crossref","first-page":"2501","DOI":"10.1002\/ajmg.a.31494","article-title":"CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome","volume":"140","author":"Maslen","year":"2006","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0042|humu23593-cit-0042","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1128\/MCB.17.4.2066","article-title":"Control of NFATx1 nuclear translocation by a calcineurin-regulated inhibitory domain","volume":"17","author":"Masuda","year":"1997","journal-title":"Molecular and Cellular Biology"},{"key":"10.1002\/humu.23593-BIB0043|humu23593-cit-0043","doi-asserted-by":"crossref","first-page":"5907","DOI":"10.1093\/nar\/gkr162","article-title":"Extracellular signal-regulated kinase 1\/2-mediated phosphorylation of p300 enhances myosin heavy chain I\/beta gene expression via acetylation of nuclear factor of activated T cells c1","volume":"39","author":"Meissner","year":"2011","journal-title":"Nucleic Acids Research"},{"key":"10.1002\/humu.23593-BIB0044|humu23593-cit-0044","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0092-8674(00)81573-1","article-title":"A calcineurin-dependent transcriptional pathway for cardiac hypertrophy","volume":"93","author":"Molkentin","year":"1998","journal-title":"Cell (Cambridge, MA, United States)"},{"key":"10.1002\/humu.23593-BIB0045|humu23593-cit-0045","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/S1097-2765(00)00053-8","article-title":"Concerted dephosphorylation of the transcription factor NFAT1 induces a conformational switch that regulates transcriptional activity","volume":"6","author":"Okamura","year":"2000","journal-title":"Molecular Cell"},{"key":"10.1002\/humu.23593-BIB0046|humu23593-cit-0046","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":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0047|humu23593-cit-0047","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/32426","article-title":"The transcription factor NF-ATc is essential for cardiac valve formation","volume":"392","author":"Ranger","year":"1998","journal-title":"Nature (London, United Kingdom)"},{"key":"10.1002\/humu.23593-BIB0048|humu23593-cit-0048","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1146\/annurev.immunol.15.1.707","article-title":"Transcription factors of the NFAT family: Regulation and function","volume":"15","author":"Rao","year":"1997","journal-title":"Annual Review of Immunology"},{"key":"10.1002\/humu.23593-BIB0049|humu23593-cit-0049","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.jpeds.2008.05.059","article-title":"Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005","volume":"153","author":"Reller","year":"2008","journal-title":"Journal of Pediatrics"},{"key":"10.1002\/humu.23593-BIB0050|humu23593-cit-0050","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1086\/374319","article-title":"Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects","volume":"72","author":"Robinson","year":"2003","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/humu.23593-BIB0051|humu23593-cit-0051","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.1320260215","article-title":"Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients","volume":"26","author":"Rollnick","year":"1987","journal-title":"American Journal of Medical Genetics"},{"key":"10.1002\/humu.23593-BIB0052|humu23593-cit-0052","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/ajmg.a.31018","article-title":"CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects","volume":"139","author":"Sarkozy","year":"2005","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0053|humu23593-cit-0053","doi-asserted-by":"crossref","first-page":"1970","DOI":"10.1002\/ajmg.a.31394","article-title":"Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect","volume":"140","author":"Sarkozy","year":"2006","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0054|humu23593-cit-0054","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1093\/hmg\/6.1.117","article-title":"Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis","volume":"6","author":"Sheffield","year":"1997","journal-title":"Human Molecular Genetics"},{"key":"10.1002\/humu.23593-BIB0055|humu23593-cit-0055","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3760\/cma.j.issn.0366-6999.20120782","article-title":"Association of NFATc1 gene polymorphism with ventricular septal defect in the Chinese Han population","volume":"126","author":"Shen","year":"2013","journal-title":"Chinese Medical Journal"},{"key":"10.1002\/humu.23593-BIB0056|humu23593-cit-0056","doi-asserted-by":"crossref","first-page":"3062","DOI":"10.1161\/CIRCULATIONAHA.108.843714","article-title":"Dominant-negative ALK2 allele associates with congenital heart defects","volume":"119","author":"Smith","year":"2009","journal-title":"Circulation"},{"issue":"5","key":"10.1002\/humu.23593-BIB0057|humu23593-cit-0057","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1016\/j.ejmg.2017.12.013","article-title":"Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review","volume":"61","author":"Spineli-Silva","year":"2017","journal-title":"European Journal of Medical Genetics"},{"key":"10.1002\/humu.23593-BIB0058|humu23593-cit-0058","first-page":"1203","article-title":"Structure of the zebrafish snail1 gene and its expression in wild-type, spadetail and no tail mutant embryos","volume":"119","author":"Thisse","year":"1993","journal-title":"Development (Cambridge, United Kingdom)"},{"key":"10.1002\/humu.23593-BIB0059|humu23593-cit-0059","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1002\/ajmg.a.35918","article-title":"Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement","volume":"161A","author":"Torti","year":"2013","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0060|humu23593-cit-0060","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1002\/uog.1774","article-title":"Three-dimensional diagnosis of Goldenhar syndrome","volume":"24","author":"Volpe","year":"2004","journal-title":"Ultrasound in Obstetrics and Gynecology"},{"key":"10.1002\/humu.23593-BIB0061|humu23593-cit-0061","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1007\/s00246-016-1469-5","article-title":"Association between single nucleotide polymorphisms in NFATC1 signaling pathway genes and susceptibility to congenital heart disease in the Chinese population","volume":"37","author":"Wang","year":"2016","journal-title":"Pediatric Cardiology"},{"key":"10.1002\/humu.23593-BIB0062|humu23593-cit-0062","volume-title":"The zebrafish book: A guide for the laboratory use of zebrafish","author":"Westerfield","year":"1993"},{"key":"10.1002\/humu.23593-BIB0063|humu23593-cit-0063","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1016\/j.tcm.2013.04.003","article-title":"Nfatc1 directs the endocardial progenitor cells to make heart valve primordium","volume":"23","author":"Wu","year":"2013","journal-title":"Trends in Cardiovascular Medicine"},{"key":"10.1002\/humu.23593-BIB0064|humu23593-cit-0064","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1002\/ajmg.a.32359","article-title":"A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?","volume":"146A","author":"Xu","year":"2008","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0065|humu23593-cit-0065","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1139\/g06-072","article-title":"Differential duplication of an intronic region in the NFATC1 gene in patients with congenital heart disease","volume":"49","author":"Yehya","year":"2006","journal-title":"Genome"},{"key":"10.1002\/humu.23593-BIB0066|humu23593-cit-0066","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1111\/j.1399-0004.2005.00435.x","article-title":"Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)","volume":"67","author":"Zatyka","year":"2005","journal-title":"Clinical Genetics"},{"key":"10.1002\/humu.23593-BIB0067|humu23593-cit-0067","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1002\/ajmg.a.36177","article-title":"High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease","volume":"161A","author":"Zhao","year":"2013","journal-title":"American Journal of Medical Genetics A"},{"key":"10.1002\/humu.23593-BIB0068|humu23593-cit-0068","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1002\/ajmg.a.35457","article-title":"Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome","volume":"158A","author":"Zhian","year":"2012","journal-title":"American Journal of Medical Genetics A"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23593","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.23593\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T07:34:24Z","timestamp":1720424064000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23593"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,30]]},"references-count":69,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2018,10]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23593","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7,30]]}}}