{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:37:15Z","timestamp":1790501835834,"version":"4.1.0"},"reference-count":35,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2014,8,20]],"date-time":"2014-08-20T00:00:00Z","timestamp":1408492800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:p>Amelogenesis imperfecta (AI) is a genetic disease affecting tooth enamel formation. AI can be an isolated entity or a phenotype of syndromes. To date, more than 10 genes have been associated with various forms of AI. We have identified 2 unrelated Turkish families with hypoplastic AI and performed mutational analysis. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene (c.454G&gt;T p.Glu152* in family 1, c.358C&gt;T p.Gln120* in family 2) in the probands. Affected individuals were heterozygous for the mutation in each family. Segregation analysis within each family revealed individuals with incomplete penetrance or extremely mild enamel phenotype, in spite of having the same mutation with the other affected individuals. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.<\/jats:p>","DOI":"10.1177\/0022034514548222","type":"journal-article","created":{"date-parts":[[2014,8,21]],"date-time":"2014-08-21T03:07:55Z","timestamp":1408590475000},"page":"988-992","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":22,"title":["<i>ENAM<\/i>\n                    Mutations with Incomplete Penetrance"],"prefix":"10.1177","volume":"93","author":[{"given":"F.","family":"Seymen","sequence":"first","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.-E.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Koruyucu","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Gencay","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Bayram","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.B.","family":"Tuna","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.H.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.-W.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"},{"name":"Department of Molecular Genetics and Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2014,8,20]]},"reference":[{"key":"bibr1-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510365662"},{"key":"bibr2-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2011.00857.x"},{"key":"bibr3-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514522060"},{"key":"bibr4-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.014"},{"key":"bibr5-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2006.09.014"},{"key":"bibr6-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9969(03)00114-6"},{"key":"bibr7-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017657"},{"key":"bibr8-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.12.900"},{"key":"bibr9-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M710565200"},{"key":"bibr10-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0089303"},{"key":"bibr11-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2013.05.005"},{"key":"bibr12-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509333180"},{"key":"bibr13-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/0810738"},{"key":"bibr14-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/154405910408300505"},{"key":"bibr15-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400314"},{"key":"bibr16-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024505"},{"key":"bibr17-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2006.00278.x"},{"key":"bibr18-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.020"},{"key":"bibr19-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/0022034513502054"},{"key":"bibr20-0022034514548222","author":"Lee KE","year":"2014","journal-title":"Clin Genet"},{"key":"bibr21-0022034514548222","first-page":"56","volume":"32","author":"Lindemeyer RG","year":"2010","journal-title":"Pediatr Dent"},{"key":"bibr22-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1069"},{"key":"bibr23-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.005"},{"key":"bibr24-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508401113"},{"key":"bibr25-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.020"},{"key":"bibr26-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.01.003"},{"key":"bibr27-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2006.10.010"},{"key":"bibr28-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt616"},{"key":"bibr29-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.76"},{"key":"bibr30-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1673"},{"key":"bibr31-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01887.x"},{"key":"bibr32-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1159\/000334210"},{"key":"bibr33-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.1986.tb01537.x"},{"key":"bibr34-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt611"},{"key":"bibr35-0022034514548222","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1988.tb01332.x"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034514548222","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0022034514548222","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034514548222","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:04:48Z","timestamp":1777496688000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0022034514548222"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,20]]},"references-count":35,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1177\/0022034514548222"],"URL":"https:\/\/doi.org\/10.1177\/0022034514548222","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,20]]}}}