{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T23:56:13Z","timestamp":1767916573896,"version":"3.49.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,6,8]],"date-time":"2018-06-08T00:00:00Z","timestamp":1528416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["2017R1A2A2A05069281"],"award-info":[{"award-number":["2017R1A2A2A05069281"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To identify the molecular genetic etiology of an individual with a dysmorphic face, unusual teeth mobility, and root resorption.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples were collected from a trio of family members, and whole\u2010exome sequencing was performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mutational analysis revealed a de novo mutation (c.6787C&gt;T) in the last exon of the <jats:italic><jats:styled-content style=\"fixed-case\">NOTCH<\/jats:styled-content>2<\/jats:italic> gene. This mutation would introduce a premature stop codon [p.(Gln2263*)] and generate a truncated protein without C\u2010terminus, escaping from the nonsense\u2010mediated decay system. Sanger sequencing confirmed that this mutation was generated spontaneously.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this study, we identified a novel nonsense mutation in the last exon of the <jats:italic><jats:styled-content style=\"fixed-case\">NOTCH<\/jats:styled-content>2<\/jats:italic> gene causing Hajdu\u2013Cheney syndrome. We described the genotype and phenotype correlation and the related dental complications. These results will advance the understanding of the <jats:styled-content style=\"fixed-case\">NOTCH<\/jats:styled-content>2 signaling in periodontitis and root resorption.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12859","type":"journal-article","created":{"date-parts":[[2018,3,22]],"date-time":"2018-03-22T22:25:59Z","timestamp":1521757559000},"page":"1037-1041","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Dental implications in Hajdu\u2013Cheney syndrome: A novel case report and review of the literature"],"prefix":"10.1111","volume":"24","author":[{"given":"JW","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"YJ","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"TJ","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u2010K","family":"Hyun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y\u2010J","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u2010H","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ZH","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9399-2197","authenticated-orcid":false,"given":"J\u2010W","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"},{"name":"Department of Molecular Genetics &amp; Dental Research Institute School of Dentistry Seoul National University  Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,6,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1902\/jop.1984.55.4.224"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2003.151"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0200-y"},{"key":"e_1_2_8_5_1","first-page":"595","article-title":"Acro\u2010osteolysis","volume":"94","author":"Cheney W. 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