{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:47:20Z","timestamp":1791139640210,"version":"4.1.0"},"reference-count":27,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2010,10,11]],"date-time":"2010-10-11T00:00:00Z","timestamp":1286755200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>The proven candidate genes for amelogenesis imperfecta (AI) are AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72. We performed mutation analyses on seven families with hypomaturation AI. A novel WDR72 dinucleotide deletion mutation (g.57,426_57,427delAT; c.1467_ 1468delAT; p.V491fsX497) was identified in both alleles of probands from Mexico and Turkey. Haplotype analyses showed that the mutations arose independently in the two families. The disease perfectly segregated with the genotype. Only persons with both copies of the mutant allele were affected. Their hypomineralized enamel suffered attrition and orange-brown staining following eruption. Expression of WDR72 fused to green fluorescent protein showed a cytoplasmic localization exclusively and was absent from the nucleus. We conclude that WDR72 is a cytoplasmic protein that is critical for dental enamel formation.<\/jats:p>","DOI":"10.1177\/0022034510382117","type":"journal-article","created":{"date-parts":[[2010,10,12]],"date-time":"2010-10-12T01:50:00Z","timestamp":1286848200000},"page":"1378-1382","source":"Crossref","is-referenced-by-count":38,"title":["Novel\n                    <i>WDR72<\/i>\n                    Mutation and Cytoplasmic Localization"],"prefix":"10.1177","volume":"89","author":[{"given":"S.-K.","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Cell and Developmental Biology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Seymen","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.-E.","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.-Y.","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Yildirim","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bahar Tuna","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Gencay","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry, Istanbul University, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.-H.","family":"Hwang","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.H.","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"De La Garza","sequence":"additional","affiliation":[{"name":"Private Practice, San Antonio, TX 78251, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.-C.","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.P.","family":"Simmer","sequence":"additional","affiliation":[{"name":"Department of Biologic and Materials Sciences, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.-W.","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology"},{"name":"Department of Pediatric Dentistry, Dental Genetics Laboratory, Department of Molecular Genetics, and Dental Research Institute, School of Dentistry, Seoul National University, 275-1 Yongon-dong, Chongno-gu, Seoul 110-768, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2010,10,11]]},"reference":[{"key":"bibr1-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.2000.3684"},{"key":"bibr2-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.1986.tb01493.x"},{"key":"bibr3-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(79)90170-1"},{"key":"bibr4-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1080\/10635150701884632"},{"key":"bibr5-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0713s37"},{"key":"bibr6-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1177\/0022034509349454"},{"key":"bibr7-0022034510382117","first-page":"369","volume":"7","author":"Dummer PM","year":"1990","journal-title":"Community Dent Health"},{"key":"bibr8-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.014"},{"key":"bibr9-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1159\/000252801"},{"key":"bibr10-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017657"},{"key":"bibr11-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1177\/154405910408300505"},{"key":"bibr12-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400314"},{"key":"bibr13-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024505"},{"key":"bibr14-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2006.00278.x"},{"key":"bibr15-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.020"},{"key":"bibr16-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90187-J"},{"key":"bibr17-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2009.05.009"},{"key":"bibr18-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20789"},{"key":"bibr19-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000838"},{"key":"bibr20-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0246-6"},{"key":"bibr21-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000634"},{"key":"bibr22-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1673"},{"key":"bibr23-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2148-8-246"},{"key":"bibr24-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1007\/978-0-387-09595-0_3"},{"key":"bibr25-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-540-37654-5"},{"key":"bibr26-0022034510382117","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-197102001-00005"},{"key":"bibr27-0022034510382117","unstructured":"Witkop CJJr, Sauk JJJr (1976). Heritable defects of enamel. In: Oral facial genetics. Stewart RE, Prescott GH, editors. St. Louis, MO: C.V. Mosby Co., pp. 151-226."}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034510382117","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0022034510382117","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0022034510382117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:05:30Z","timestamp":1777496730000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0022034510382117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,11]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1177\/0022034510382117"],"URL":"https:\/\/doi.org\/10.1177\/0022034510382117","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,11]]}}}