{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:19:12Z","timestamp":1787015952916,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T00:00:00Z","timestamp":1531872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004396","name":"Thailand Research Fund","doi-asserted-by":"publisher","award":["DPG6180001"],"award-info":[{"award-number":["DPG6180001"]}],"id":[{"id":"10.13039\/501100004396","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012527","name":"Office of the Higher Education Commission","doi-asserted-by":"publisher","award":["MRG6080001"],"award-info":[{"award-number":["MRG6080001"]}],"id":[{"id":"10.13039\/100012527","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010897","name":"Newton Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2018,11]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n To delineate orodental features, dental mineral density, genetic aetiology and cellular characteristics associated with amelogenesis imperfecta (AI).<\/jats:p>\n <\/jats:sec>\n \n Materials and Methods<\/jats:title>\n Three affected patients in a family were recruited. Whole\u2010exome sequencing was used to identify mutations confirmed by Sanger sequencing. The proband's teeth were subjected for mineral density analysis by microcomputerised tomography and characterisation of periodontal ligament cells (PDLCs).<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The patients presented yellow\u2010brown, pitted and irregular enamel. A novel nonsense mutation, c.1261G>T, p.E421*, in exon 5 of the\n FAM83H<\/jats:italic>\n was identified. The mineral density of the enamel was significantly decreased in the proband. The patient's PDLCs (\n FAM83H<\/jats:italic>\n cells) exhibited reduced ability of cell proliferation and colony\u2010forming unit compared with controls. The formation of stress fibres was remarkably present. Upon cultured in osteogenic induction medium,\n FAM83H<\/jats:italic>\n cells, at day 7 compared to day 3, had a significant reduction of\n BSP<\/jats:italic>\n ,\n COL1<\/jats:italic>\n and\n OCN<\/jats:italic>\n mRNA expression and no significant change in\n RUNX2<\/jats:italic>\n . The upregulation of\n ALP<\/jats:italic>\n mRNA levels and mineral deposition were comparable between\n FAM83H<\/jats:italic>\n and control cells.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We identified the novel mutation in\n FAM83H<\/jats:italic>\n associated with autosomal dominant hypocalcified AI. The\n FAM83H<\/jats:italic>\n cells showed reduced cell proliferation and expression of osteogenic markers, suggesting altered PDLCs in\n FAM83H<\/jats:italic>\n \u2010associated AI.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/odi.12926","type":"journal-article","created":{"date-parts":[[2018,6,27]],"date-time":"2018-06-27T10:01:36Z","timestamp":1530093696000},"page":"1522-1531","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Amelogenesis imperfecta: A novel\n FAM83H<\/i>\n mutation and characteristics of periodontal ligament cells"],"prefix":"10.1111","volume":"24","author":[{"given":"Nunthawan","family":"Nowwarote","sequence":"first","affiliation":[{"name":"Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry Chulalongkorn University Bangkok 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