{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T06:50:37Z","timestamp":1768459837368,"version":"3.49.0"},"reference-count":32,"publisher":"Public Library of Science (PLoS)","issue":"8","license":[{"start":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T00:00:00Z","timestamp":1407196800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0095453","type":"journal-article","created":{"date-parts":[[2014,8,5]],"date-time":"2014-08-05T18:00:31Z","timestamp":1407261631000},"page":"e95453","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":58,"title":["Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot"],"prefix":"10.1371","volume":"9","author":[{"given":"Ana","family":"T\u00f6pf","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen R.","family":"Griffin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Glen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Soemedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Danielle L.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darroch","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thahira J.","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jyrki J.","family":"Eloranta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"J\u00fcngst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Graham","family":"Stuart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"O'Sullivan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard D.","family":"Keavney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith A.","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,8,5]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1161\/hc4601.098427","article-title":"NKX2.5 mutations in patients with tetralogy of fallot","volume":"104","author":"E Goldmuntz","year":"2001","journal-title":"Circulation"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1111\/j.1747-0803.2011.00573.x","article-title":"Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations","volume":"7","author":"JT Granados-Riveron","year":"2012","journal-title":"Congenit Heart Dis"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1038\/nrg1710","article-title":"Building the mammalian heart from two sources of myocardial cells","volume":"6","author":"M Buckingham","year":"2005","journal-title":"Nat Rev Genet"},{"key":"ref4","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":"V Garg","year":"2003","journal-title":"Nature"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/ajmg.a.30684","article-title":"Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect","volume":"135","author":"K Hirayama-Yamada","year":"2005","journal-title":"Am J Med Genet A"},{"key":"ref6","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":"EP Kirk","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref7","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":"MG Posch","year":"2010","journal-title":"J Med Genet"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","article-title":"Role of TBX1 in human del22q11.2 syndrome","volume":"362","author":"H Yagi","year":"2003","journal-title":"Lancet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","article-title":"Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions","volume":"80","author":"C Zweier","year":"2007","journal-title":"Am J Hum Genet"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1001\/archopht.116.1.78","article-title":"Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome","volume":"116","author":"ET Cunningham Jr","year":"1998","journal-title":"Arch Ophthalmol"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/ajmg.10493","article-title":"Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?","volume":"111","author":"S Grosso","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.39.7.478","article-title":"Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24","volume":"39","author":"G Brice","year":"2002","journal-title":"J Med Genet"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1002\/humu.21253","article-title":"Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression","volume":"31","author":"M Zweier","year":"2010","journal-title":"Hum Mutat"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1136\/hrt.2010.200121","article-title":"Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants","volume":"96","author":"HR Griffin","year":"2010","journal-title":"Heart"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","article-title":"Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease","volume":"91","author":"R Soemedi","year":"2012","journal-title":"Am J Hum Genet"},{"key":"ref16","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":"BD Thattaliyath","year":"2002","journal-title":"J Mol Cell Cardiol"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.jhep.2003.10.008","article-title":"The human organic anion transporting polypeptide 8 (SLCO1B3) gene is transcriptionally repressed by hepatocyte nuclear factor 3beta in hepatocellular carcinoma","volume":"40","author":"SR Vavricka","year":"2004","journal-title":"J Hepatol"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1086\/318792","article-title":"Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1","volume":"68","author":"RA Saleem","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1161\/CIRCRESAHA.109.196063","article-title":"Tbx20 interacts with smads to confine tbx2 expression to the atrioventricular canal","volume":"105","author":"R Singh","year":"2009","journal-title":"Circ Res"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"7347","DOI":"10.1128\/MCB.19.11.7347","article-title":"Identification of a bidirectional splicing enhancer: differential involvement of SR proteins in 5' or 3' splice site activation","volume":"19","author":"CF Bourgeois","year":"1999","journal-title":"Mol Cell Biol"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1111\/j.1399-0004.2009.01210.x","article-title":"Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis","volume":"76","author":"CD Fetterman","year":"2009","journal-title":"Clin Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ajhg.2008.05.012","article-title":"Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly","volume":"83","author":"E Roessler","year":"2008","journal-title":"Am J Hum Genet"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"E1002","DOI":"10.1002\/humu.21127","article-title":"Novel missense mutations in the FOXC2 gene alter transcriptional activity","volume":"30","author":"MA van Steensel","year":"2009","journal-title":"Hum Mutat"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.gde.2005.04.003","article-title":"The other trinucleotide repeat: polyalanine expansion disorders","volume":"15","author":"A Albrecht","year":"2005","journal-title":"Curr Opin Genet Dev"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1093\/hmg\/11.8.981","article-title":"ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation","volume":"11","author":"T Bienvenu","year":"2002","journal-title":"Hum Mol Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1038\/ng0298-164","article-title":"Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy","volume":"18","author":"B Brais","year":"1998","journal-title":"Nat Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"2871","DOI":"10.1242\/dev.02872","article-title":"Early developmental specification of the thyroid gland depends on han-expressing surrounding tissue and on FGF signals","volume":"134","author":"T Wendl","year":"2007","journal-title":"Development"},{"key":"ref28","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":"L Shen","year":"2010","journal-title":"Chin Med J (Engl)"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"2139","DOI":"10.1002\/ajmg.a.35502","article-title":"Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region","volume":"158A","author":"EM Strehle","year":"2012","journal-title":"Am J Med Genet A"},{"key":"ref30","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":"M Tamura","year":"2013","journal-title":"Hum Mol Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1038\/ejhg.2009.93","article-title":"Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations","volume":"17","author":"Z Tumer","year":"2009","journal-title":"Eur J Hum Genet"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1002\/uog.3841","article-title":"Right aortic arch in the fetus","volume":"28(7)","author":"V Zidere","year":"2006","journal-title":"Ultrasound Obstet Gynecol"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0095453","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,31]],"date-time":"2024-05-31T22:44:45Z","timestamp":1717195485000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0095453"}},"subtitle":[],"editor":[{"given":"Leonard","family":"Eisenberg","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,8,5]]},"references-count":32,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2014,8,5]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0095453","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,5]]}}}