{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:12:26Z","timestamp":1761718346654},"reference-count":8,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,6,16]],"date-time":"2014-06-16T00:00:00Z","timestamp":1402876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Paediatric Dentistry and Orthodontics, The University of Hong Kong"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:p>This study reports a novel identical complex disease allele harboring two non\u2010synonymous mutations that were identified in two southern Chinese individuals of the same family with cleidocranial dysplasia (<jats:styled-content style=\"fixed-case\">CCD<\/jats:styled-content>). Blood samples were obtained from the proband, his parents, plus 100 matched control subjects. Exons 0 to 7 of the <jats:styled-content style=\"fixed-case\">RUNX<\/jats:styled-content>2 gene were amplified using specific primers and sequenced. Multiple sequence alignment and protein structure modeling was performed using ClustalW2 and <jats:styled-content style=\"fixed-case\">MODBASE<\/jats:styled-content> software while PolyPhen\u20102 and MutationTaster applications were employed to predict the disease\u2010causing potential of the identified mutations. A complex disease allele in two affected individuals harboring two non\u2010synonymous mutations in a cis\u2010position on exons 4 (D273N) and 5 (P299L) were identified. The identified mutations were in the conserved region and changed the protein structure.<\/jats:p>","DOI":"10.1111\/jop.12198","type":"journal-article","created":{"date-parts":[[2014,11,3]],"date-time":"2014-11-03T12:56:44Z","timestamp":1415019404000},"page":"798-800","source":"Crossref","is-referenced-by-count":6,"title":["Novel complex disease allele mutations in cleidocranial dysplasia patients"],"prefix":"10.1111","volume":"43","author":[{"given":"Robert P.","family":"Anthonappa","sequence":"first","affiliation":[{"name":"School of Dentistry The University of Western Australia Perth Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fan","family":"Yan\u2010Hui","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Centre for Reproduction, Development and Growth LKS Faculty of Medicine The University of Hong Kong Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nigel M.","family":"King","sequence":"additional","affiliation":[{"name":"School of Dentistry The University of Western Australia Perth Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abu Bakr M.","family":"Rabie","sequence":"additional","affiliation":[{"name":"Orthodontist, Private Practice Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song","family":"You\u2010Qiang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Centre for Reproduction, Development and Growth LKS Faculty of Medicine The University of Hong Kong Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,6,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420307"},{"key":"e_1_2_5_3_1","first-page":"117","article-title":"Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities","volume":"59","author":"D'Alessandro G","year":"2010","journal-title":"Minerva Stomatol"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.511"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80260-3"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.22875"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm404"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"}],"container-title":["Journal of Oral Pathology &amp; Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjop.12198","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjop.12198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jop.12198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T18:22:12Z","timestamp":1696530132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jop.12198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,6,16]]},"references-count":8,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/jop.12198"],"URL":"https:\/\/doi.org\/10.1111\/jop.12198","archive":["Portico"],"relation":{},"ISSN":["0904-2512","1600-0714"],"issn-type":[{"value":"0904-2512","type":"print"},{"value":"1600-0714","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,6,16]]}}}