{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:18:53Z","timestamp":1792271933042,"version":"4.4.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2006,8,9]],"date-time":"2006-08-09T00:00:00Z","timestamp":1155081600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1038\/sj.ejhg.5201702","type":"journal-article","created":{"date-parts":[[2006,8,9]],"date-time":"2006-08-09T05:54:57Z","timestamp":1155102897000},"page":"1313-1316","source":"Crossref","is-referenced-by-count":71,"title":["A novel CSX\/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?"],"prefix":"10.1038","volume":"14","author":[{"given":"Ilse","family":"Gutierrez-Roelens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luc De","family":"Roy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Ovaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Sluysmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han G","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miikka","family":"Vikkula","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,8,9]]},"reference":[{"key":"BF5201702_CR1","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1126\/science.281.5373.108","volume":"281","author":"JJ Schott","year":"1998","unstructured":"Schott JJ, Benson DW, Basson CT et al: Congenital heart disease caused by mutations in the transcription factor NKX2-5 [see comments]. Science 1998; 281: 108\u2013111.","journal-title":"Science"},{"key":"BF5201702_CR2","doi-asserted-by":"publisher","first-page":"2043","DOI":"10.1161\/01.CIR.97.20.2043","volume":"97","author":"DW Benson","year":"1998","unstructured":"Benson DW, Sharkey A, Fatkin D et al: Reduced penetrance, variable expressivity, and genetic heterogeneity of familial atrial septal defects. Circulation 1998; 97: 2043\u20132048.","journal-title":"Circulation"},{"key":"BF5201702_CR3","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1002\/humu.9041","volume":"20","author":"I Gutierrez-Roelens","year":"2002","unstructured":"Gutierrez-Roelens I, Sluysmans T, Gewillig M, Devriendt K, Vikkula M : Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX\/NKX2- 5 gene. Hum Mutat 2002; 20: 75\u201376.","journal-title":"Hum Mutat"},{"key":"BF5201702_CR4","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1136\/jmg.39.11.807","volume":"39","author":"Y Watanabe","year":"2002","unstructured":"Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC : Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002; 39: 807\u2013811.","journal-title":"J Med Genet"},{"key":"BF5201702_CR5","doi-asserted-by":"publisher","first-page":"2072","DOI":"10.1016\/S0735-1097(03)00420-0","volume":"41","author":"DA Elliott","year":"2003","unstructured":"Elliott DA, Kirk EP, Yeoh T et al: Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol 2003; 41: 2072\u20132076.","journal-title":"J Am Coll Cardiol"},{"key":"BF5201702_CR6","doi-asserted-by":"publisher","first-page":"1650","DOI":"10.1016\/j.jacc.2003.05.004","volume":"42","author":"DB McElhinney","year":"2003","unstructured":"McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E : NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 2003; 42: 1650\u20131655.","journal-title":"J Am Coll Cardiol"},{"key":"BF5201702_CR7","doi-asserted-by":"publisher","first-page":"e16","DOI":"10.1136\/jmg.2004.026740","volume":"42","author":"A Sarkozy","year":"2005","unstructured":"Sarkozy A, Conti E, Neri C et al: Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 2005; 42: e16.","journal-title":"J Med Genet"},{"key":"BF5201702_CR8","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1172\/JCI9860","volume":"106","author":"H Kasahara","year":"2000","unstructured":"Kasahara H, Lee B, Schott JJ et al: Loss of function and inhibitory effects of human CSX\/NKX2.5 homeoprotein mutations associated with congenital heart disease. J Clin Invest 2000; 106: 299\u2013308.","journal-title":"J Clin Invest"},{"key":"BF5201702_CR9","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1253\/jcj.63.425","volume":"63","author":"T Hosoda","year":"1999","unstructured":"Hosoda T, Komuro I, Shiojima I et al: Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX\/NKX2-5 in a Japanese patient. Jpn Circ J 1999; 63: 425\u2013426.","journal-title":"Jpn Circ J"},{"key":"BF5201702_CR10","doi-asserted-by":"publisher","first-page":"2565","DOI":"10.1161\/hc4601.098427","volume":"104","author":"E Goldmuntz","year":"2001","unstructured":"Goldmuntz E, Geiger E, Benson DW : NKX2.5 mutations in patients with tetralogy of fallot. Circulation 2001; 104: 2565\u20132568.","journal-title":"Circulation"},{"key":"BF5201702_CR11","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1253\/circj.66.561","volume":"66","author":"Y Ikeda","year":"2002","unstructured":"Ikeda Y, Hiroi Y, Hosoda T et al: Novel point mutation in the cardiac transcription factor CSX\/NKX2.5 associated with congenital heart disease. Circ J 2002; 66: 561\u2013563.","journal-title":"Circ J"},{"key":"BF5201702_CR12","doi-asserted-by":"publisher","first-page":"2117","DOI":"10.1016\/S0002-9440(10)63770-4","volume":"164","author":"SM Reamon-Buettner","year":"2004","unstructured":"Reamon-Buettner SM, Hecker H, Spanel-Borowski K, Craatz S, Kuenzel E, Borlak J : Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am J Pathol 2004; 164: 2117\u20132125.","journal-title":"Am J Pathol"},{"key":"BF5201702_CR13","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1172\/JCI19846","volume":"113","author":"PY Jay","year":"2004","unstructured":"Jay PY, Harris BS, Maguire CT et al: Nkx2-5 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest 2004; 113: 1130\u20131137.","journal-title":"J Clin Invest"},{"key":"BF5201702_CR14","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/S0092-8674(04)00405-2","volume":"117","author":"M Pashmforoush","year":"2004","unstructured":"Pashmforoush M, Lu JT, Chen H et al: Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 2004; 117: 373\u2013386.","journal-title":"Cell"},{"key":"BF5201702_CR15","doi-asserted-by":"publisher","first-page":"1567","DOI":"10.1172\/JCI8154","volume":"104","author":"DW Benson","year":"1999","unstructured":"Benson DW, Silberbach GM, Kavanaugh-McHugh A et al: Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104: 1567\u20131573.","journal-title":"J Clin Invest"},{"key":"BF5201702_CR16","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<193::AID-AJMG10>3.0.CO;2-M","volume":"83","author":"A Megarbane","year":"1999","unstructured":"Megarbane A, Stephan E, Kassab R et al: Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder. Am J Med Genet 1999; 83: 193\u2013200.","journal-title":"Am J Med Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/5201702.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201702","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/5201702.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T01:37:17Z","timestamp":1684373837000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/5201702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,9]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["BF5201702"],"URL":"https:\/\/doi.org\/10.1038\/sj.ejhg.5201702","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,9]]}}}