{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:09:52Z","timestamp":1791900592675,"version":"4.3.4"},"reference-count":40,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,3,1]]},"DOI":"10.1093\/hmg\/ddi055","type":"journal-article","created":{"date-parts":[[2005,1,14]],"date-time":"2005-01-14T01:18:03Z","timestamp":1105665483000},"page":"585-593","source":"Crossref","is-referenced-by-count":62,"title":["Common arterial trunk associated with a homeodomain mutation of NKX2.6"],"prefix":"10.1093","volume":"14","author":[{"given":"Kirsten","family":"Heathcote","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Braybrook","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lulu","family":"Abushaban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle","family":"Guy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maher E.","family":"Khetyar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Patton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas D.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Scambler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petros","family":"Syrris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2005,1,13]]},"reference":[{"key":"key\n\t\t\t\t20171011142216_DDI055C1","doi-asserted-by":"crossref","unstructured":"Hoffman, J.I. and Kaplan, S. ( 2002 ) The incidence of congenital heart disease. J. Am. Coll. Cardiol. , 19 , 1890 \u20131900.","DOI":"10.1016\/S0735-1097(02)01886-7"},{"key":"key\n\t\t\t\t20171011142216_DDI055C2","doi-asserted-by":"crossref","unstructured":"Ferdman, B. and Singh, G. ( 2003 ) Persistent truncus arteriosus. Curr. Treat. Options. Cardiovasc. Med. , 5 , 429 \u2013438.","DOI":"10.1007\/s11936-003-0049-1"},{"key":"key\n\t\t\t\t20171011142216_DDI055C3","doi-asserted-by":"crossref","unstructured":"Hoffman, J.I., Kaplan, S. and Liberthson, R.R. ( 2004 ) Prevalence of congenital heart disease. Am. Heart J. , 147 , 425 \u2013439.","DOI":"10.1016\/j.ahj.2003.05.003"},{"key":"key\n\t\t\t\t20171011142216_DDI055C4","doi-asserted-by":"crossref","unstructured":"Webb, S., Qayyum, S.R., Anderson, R.H., Lamers, W.H. and Richardson, M.K. ( 2003 ) Septation and separation within the outflow tract of the developing heart. J. Anat. , 202 , 327 \u2013342.","DOI":"10.1046\/j.1469-7580.2003.00168.x"},{"key":"key\n\t\t\t\t20171011142216_DDI055C5","doi-asserted-by":"crossref","unstructured":"Volpe, P., Paladini, D., Marasini, M., Buonadonna, A.L., Russo, M.G., Caruso, G., Marzullo, A., Vassallo, M., Martinelli, P. and Gentile, M. ( 2003 ) Common arterial trunk in the fetus: characteristics, associations and outcome in a multicentre series of 23 cases. Heart , 89 , 1437 \u20131441.","DOI":"10.1136\/heart.89.12.1437"},{"key":"key\n\t\t\t\t20171011142216_DDI055C6","doi-asserted-by":"crossref","unstructured":"Creazzo, T.L., Godt, R.E., Leatherbury, L., Conway, S.J. and Kirby, M.L. ( 1998 ) Role of cardiac neural crest cells in cardiovascular development. Annu. Rev. Physiol , 60 , 267 \u2013286.","DOI":"10.1146\/annurev.physiol.60.1.267"},{"key":"key\n\t\t\t\t20171011142216_DDI055C7","doi-asserted-by":"crossref","unstructured":"Franco, D. and Campione, M. ( 2003 ) The role of Pitx2 during cardiac development. Linking left\u2013right signaling and congenital heart diseases. Trends Cardiovasc. Med. , 13 , 157 \u2013163.","DOI":"10.1016\/S1050-1738(03)00039-2"},{"key":"key\n\t\t\t\t20171011142216_DDI055C8","doi-asserted-by":"crossref","unstructured":"Kelly, R.G. and Buckingham, M.E. ( 2002 ) The anterior heart-forming field: voyage to the arterial pole of the heart. Trends Genet. , 18 , 210 \u2013216.","DOI":"10.1016\/S0168-9525(02)02642-2"},{"key":"key\n\t\t\t\t20171011142216_DDI055C9","doi-asserted-by":"crossref","unstructured":"Cai, C.L., Liang, X., Shi, Y., Chu, P.H., Pfaff, S.L., Chen, J. and Evans, S. ( 2003 ) Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Dev. Cell , 5 , 877 \u2013889.","DOI":"10.1016\/S1534-5807(03)00363-0"},{"key":"key\n\t\t\t\t20171011142216_DDI055C10","doi-asserted-by":"crossref","unstructured":"Xu, H., Morishima, M., Wylie, J.N., Schwartz, R.J., Bruneau, B.G., Lindsay, E.A. and Baldini, A. ( 2004 ) Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development , 131 , 3217 \u20133227.","DOI":"10.1242\/dev.01174"},{"key":"key\n\t\t\t\t20171011142216_DDI055C11","doi-asserted-by":"crossref","unstructured":"Hu, T., Yamagishi, H., Maeda, J., McAnally, J., Yamagishi, C. and Srivastava, D. ( 2004 ) Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development , 131 , 5491 \u20135502.","DOI":"10.1242\/dev.01399"},{"key":"key\n\t\t\t\t20171011142216_DDI055C12","doi-asserted-by":"crossref","unstructured":"Brown, C.B., Wenning, J.M., Lu, M.M., Epstein, D.J., Meyers, E.N. and Epstein, J.A. ( 2004 ) Cre-mediated excision of Fgf8 in the Tbx1 expression domain reveals a critical role for Fgf8 in cardiovascular development in the mouse. Dev. Biol. , 267 , 190 \u2013202.","DOI":"10.1016\/j.ydbio.2003.10.024"},{"key":"key\n\t\t\t\t20171011142216_DDI055C13","unstructured":"Scambler, P.J. ( 2003 ) In Cooper, D. (ed), Nature Encyclopedia of the Human Genome . Macmillan, London."},{"key":"key\n\t\t\t\t20171011142216_DDI055C14","doi-asserted-by":"crossref","unstructured":"McElhinney, D.B., Geiger, E., Blinder, J., Benson, D.W. and Goldmuntz, E. ( 2003 ) NKX2.5 mutations in patients with congenital heart disease. J. Am. Coll. Cardiol. , 42 , 1650 \u20131655.","DOI":"10.1016\/j.accreview.2003.12.072"},{"key":"key\n\t\t\t\t20171011142216_DDI055C15","doi-asserted-by":"crossref","unstructured":"Hiroi, Y., Kudoh, S., Monzen, K., Ikeda, Y., Yazaki, Y., Nagai, R. and Komuro, I. ( 2001 ) Tbx5 associates with Nkx2\u20135 and synergistically promotes cardiomyocyte differentiation. Nat. Genet. , 28 , 276 \u2013280.","DOI":"10.1038\/90123"},{"key":"key\n\t\t\t\t20171011142216_DDI055C16","doi-asserted-by":"crossref","unstructured":"Garg, V., Kathiriya, I.S., Barnes, R., Schluterman, M.K., King, I.N., Butler, C.A., Rothrock, C.R., Eapen, R.S., Hirayama-Yamada, K., Joo, K. et al. ( 2003 ) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature , 424 , 443 \u2013447.","DOI":"10.1038\/nature01827"},{"key":"key\n\t\t\t\t20171011142216_DDI055C17","doi-asserted-by":"crossref","unstructured":"Harrelson, Z., Kelly, R.G., Goldin, S.N., Gibson-Brown, J.J., Bollag, R.J., Silver, L.M. and Papaioannou, V.E. ( 2004 ) Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development , 131 , 5041 \u20135052.","DOI":"10.1242\/dev.01378"},{"key":"key\n\t\t\t\t20171011142216_DDI055C18","doi-asserted-by":"crossref","unstructured":"Habets, P.E., Moorman, A.F., Clout, D.E., van Roon, M.A., Lingbeek, M., van Lohuizen, M., Campione, M. and Christoffels, V.M. ( 2002 ) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev. , 16 , 1234 \u20131246.","DOI":"10.1101\/gad.222902"},{"key":"key\n\t\t\t\t20171011142216_DDI055C19","doi-asserted-by":"crossref","unstructured":"Abushaban, L., Uthaman, B., Kumar, A.R. and Selvan, J. ( 2003 ) Familial truncus arteriosus: a possible autosomal-recessive trait. Pediatr. Cardiol. , 24 , 64 \u201366.","DOI":"10.1007\/s00246-001-0099-7"},{"key":"key\n\t\t\t\t20171011142216_DDI055C20","doi-asserted-by":"crossref","unstructured":"Broman, K.W., Murray, J.C., Sheffield, V.C., White, R.L. and Weber, J.L. ( 1998 ) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. , 63 , 861 \u2013869.","DOI":"10.1086\/302011"},{"key":"key\n\t\t\t\t20171011142216_DDI055C21","doi-asserted-by":"crossref","unstructured":"Birney, E. andrews, D., Bevan, P., Caccamo, M., Cameron, G., Chen, Y., Clarke, L., Coates, G., Cox, T., Cuff, J. et al. ( 2004 ) Ensembl 2004. Nucleic Acids Res. , 32 , D468 \u2013D470.","DOI":"10.1093\/nar\/gkh038"},{"key":"key\n\t\t\t\t20171011142216_DDI055C22","doi-asserted-by":"crossref","unstructured":"Nikolova, M., Chen, X. and Lufkin, T. ( 1997 ) Nkx2.6 expression is transiently and specifically restricted to the branchial region of pharyngeal-stage mouse embryos. Mech. Dev. , 69 , 215 \u2013218.","DOI":"10.1016\/S0925-4773(97)00174-3"},{"key":"key\n\t\t\t\t20171011142216_DDI055C23","doi-asserted-by":"crossref","unstructured":"Harvey, R.P. ( 1996 ) NK-2 homeobox genes and heart development. Dev. Biol. , 178 , 203 \u2013216.","DOI":"10.1006\/dbio.1996.0212"},{"key":"key\n\t\t\t\t20171011142216_DDI055C24","doi-asserted-by":"crossref","unstructured":"Newman, C.S. and Krieg, P.A. ( 1998 ) Tinman-related genes expressed during heart development in Xenopus. Dev.Genet. , 22 , 230 \u2013238.","DOI":"10.1002\/(SICI)1520-6408(1998)22:3<230::AID-DVG5>3.0.CO;2-7"},{"key":"key\n\t\t\t\t20171011142216_DDI055C25","doi-asserted-by":"crossref","unstructured":"Durocher, D., Charron, F., Warren, R., Schwartz, R.J. and Nemer, M. ( 1997 ) The cardiac transcription factors Nkx2\u20135 and GATA-4 are mutual cofactors. EMBO J. , 16 , 5687 \u20135696.","DOI":"10.1093\/emboj\/16.18.5687"},{"key":"key\n\t\t\t\t20171011142216_DDI055C26","doi-asserted-by":"crossref","unstructured":"Chen, C.Y., Croissant, J., Majesky, M., Topouzis, S., McQuinn, T., Frankovsky, M.J. and Schwartz, R.J. ( 1996 ) Activation of the cardiac alpha-actin promoter depends upon serum response factor, tinman homologue, Nkx-2.5 and intact serum response elements. Dev. Genet. , 19 , 119 \u2013130.","DOI":"10.1002\/(SICI)1520-6408(1996)19:2<119::AID-DVG3>3.0.CO;2-C"},{"key":"key\n\t\t\t\t20171011142216_DDI055C27","doi-asserted-by":"crossref","unstructured":"Kasahara, H., Usheva, A., Ueyama, T., Aoki, H., Horikoshi, N. and Izumo, S. ( 2001 ) Characterization of homo- and heterodimerization of cardiac Csx\/Nkx2.5 homeoprotein. J. Biol. Chem. , 276 , 4570 \u20134580.","DOI":"10.1074\/jbc.M004995200"},{"key":"key\n\t\t\t\t20171011142216_DDI055C28","doi-asserted-by":"crossref","unstructured":"D'Elia, A.V., Tell, G., Paron, I., Pellizzari, L., Lonigro, R. and Damante, G. ( 2001 ) Missense mutations of human homeoboxes: a review. Hum. Mutat. , 18 , 361 \u2013374.","DOI":"10.1002\/humu.1207"},{"key":"key\n\t\t\t\t20171011142216_DDI055C29","doi-asserted-by":"crossref","unstructured":"Kissinger, C.R., Liu, B.S., Martin-Blanco, E., Kornberg, T.B. and Pabo, C.O. ( 1990 ) Crystal structure of an engrailed homeodomain\u2013DNA complex at 2.8 A resolution: a framework for understanding homeodomain\u2013DNA interactions. Cell , 63 , 579 \u2013590.","DOI":"10.1016\/0092-8674(90)90453-L"},{"key":"key\n\t\t\t\t20171011142216_DDI055C30","doi-asserted-by":"crossref","unstructured":"Banerjee-Basu, S. and Baxevanis, A.D. ( 1999 ) Threading analysis of the Pitx2 homeodomain: predicted structural effects of mutations causing Rieger syndrome and iridogoniodysgenesis. Hum. Mutat. , 14 , 312 \u2013319.","DOI":"10.1002\/(SICI)1098-1004(199910)14:4<312::AID-HUMU6>3.0.CO;2-S"},{"key":"key\n\t\t\t\t20171011142216_DDI055C31","doi-asserted-by":"crossref","unstructured":"Falcinelli, C., Iughetti, L., Percesepe, A., Calabrese, G., Chiarelli, F., Cisternino, M., De Sanctis, L., Pucarelli, I., Radetti, G., Wasniewska, M. et al. ( 2002 ) SHOX point mutations and deletions in Leri\u2013Weill dyschondrosteosis. J. Med. Genet. , 39 , E33 .","DOI":"10.1136\/jmg.39.6.e33"},{"key":"key\n\t\t\t\t20171011142216_DDI055C32","doi-asserted-by":"crossref","unstructured":"Osorio, M.G., Kopp, P., Marui, S., Latronico, A.C., Mendonca, B.B. and Arnhold, I.J. ( 2000 ) Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1. J. Clin. Endocrinol. Metab , 85 , 2779 \u20132785.","DOI":"10.1210\/jcem.85.8.6744"},{"key":"key\n\t\t\t\t20171011142216_DDI055C33","doi-asserted-by":"crossref","unstructured":"Biben, C., Hatzistavrou, T. and Harvey, R.P. ( 1998 ) Expression of NK-2 class homeobox gene Nkx2\u20136 in foregut endoderm and heart. Mech. Dev. , 73 , 125 \u2013127.","DOI":"10.1016\/S0925-4773(98)00037-9"},{"key":"key\n\t\t\t\t20171011142216_DDI055C34","doi-asserted-by":"crossref","unstructured":"Lyons, I., Parsons, L.M., Hartley, L., Li, R. Andrews, J.E., Robb, L. and Harvey, R.P. ( 1995 ) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nkx2\u20135. Genes Dev. , 9 , 1654 \u20131666.","DOI":"10.1101\/gad.9.13.1654"},{"key":"key\n\t\t\t\t20171011142216_DDI055C35","doi-asserted-by":"crossref","unstructured":"Tanaka, M., Yamasaki, N. and Izumo, S. ( 2000 ) Phenotypic characterization of the murine Nkx2.6 homeobox gene by gene targeting. Mol. Cell. Biol. , 20 , 2874 \u20132879.","DOI":"10.1128\/MCB.20.8.2874-2879.2000"},{"key":"key\n\t\t\t\t20171011142216_DDI055C36","doi-asserted-by":"crossref","unstructured":"Macatee, T.L., Hammond, B.P., Arenkiel, B.R., Francis, L., Frank, D.U. and Moon, A.M. ( 2003 ) Ablation of specific expression domains reveals discrete functions of ectoderm- and endoderm-derived FGF8 during cardiovascular and pharyngeal development. Development , 130 , 6361 \u20136374.","DOI":"10.1242\/dev.00850"},{"key":"key\n\t\t\t\t20171011142216_DDI055C37","doi-asserted-by":"crossref","unstructured":"Tanaka, M., Schinke, M., Liao, H.S., Yamasaki, N. and Izumo, S. ( 2001 ) Nkx2.5 and Nkx2.6, homologs of Drosophila tinman , are required for development of the pharynx. Mol. Cell. Biol. , 21 , 4391 \u20134398.","DOI":"10.1128\/MCB.21.13.4391-4398.2001"},{"key":"key\n\t\t\t\t20171011142216_DDI055C38","doi-asserted-by":"crossref","unstructured":"Sepulveda, J.L., Belaguli, N., Nigam, V., Chen, C.Y., Nemer, M. and Schwartz, R.J. ( 1998 ) GATA-4 and Nkx-2.5 coactivate Nkx-2 DNA binding targets: role for regulating early cardiac gene expression. Mol. Cell. Biol. , 18 , 3405 \u20133415.","DOI":"10.1128\/MCB.18.6.3405"},{"key":"key\n\t\t\t\t20171011142216_DDI055C39","doi-asserted-by":"crossref","unstructured":"Baldini, A. ( 2004 ) DiGeorge syndrome: an update. Curr. Opin. Cardiol. , 19 , 201 \u2013204.","DOI":"10.1097\/00001573-200405000-00002"},{"key":"key\n\t\t\t\t20171011142216_DDI055C40","doi-asserted-by":"crossref","unstructured":"Benson, D.A., Karsch-Mizrachi, I., Lipman, D.J., Ostell, J. and Wheeler, D.L. ( 2004 ) GenBank: update. Nucleic Acids Res. , 32 , D23 \u2013D26.","DOI":"10.1093\/nar\/gkh045"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/14\/5\/585\/6949614\/ddi055.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,4,5]],"date-time":"2020-04-05T09:30:47Z","timestamp":1586079047000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/14\/5\/585\/2355864\/Common-arterial-trunk-associated-with-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,13]]},"references-count":40,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2005,1,13]]},"published-print":{"date-parts":[[2005,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddi055","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published-other":{"date-parts":[[2005,3,1]]},"published":{"date-parts":[[2005,1,13]]}}}