{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:21Z","timestamp":1761718221790},"reference-count":26,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,6,25]],"date-time":"2012-06-25T00:00:00Z","timestamp":1340582400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:p>Tooth agenesis is one of the most common developmental disorders in humans. Previous studies have attributed non\u2010syndromic tooth agenesis to mutations in several genes, including <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic>. In this study, we investigated a Chinese family with tooth agenesis combined with cleft lip. Genomic <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> was isolated from blood samples of all available family members. Candidate genes <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic> were amplified by the <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> and directly sequenced. A novel heterozygous mutation at c.C565T, exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>, was identified in affected members. To analyze the effect of the nonsense mutation on <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> expression, vectors containing wild\u2010type and mutated <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> were constructed and transfected into <jats:styled-content style=\"fixed-case\">COS<\/jats:styled-content>7 cell lines. Real\u2010time <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> showed that the mRNA expression of the mutated <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> was dramatically reduced compared with that of the wild\u2010type <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>. Our findings suggest that the nonsense mutation in <jats:styled-content style=\"fixed-case\"><jats:italic>MSX<\/jats:italic><\/jats:styled-content><jats:italic>1<\/jats:italic> might have resulted in rapid degradation of the mutated transcript and caused the phenotype of tooth agenesis with cleft lip in the Chinese family.<\/jats:p>","DOI":"10.1111\/j.1600-0722.2012.00965.x","type":"journal-article","created":{"date-parts":[[2012,6,25]],"date-time":"2012-06-25T14:02:08Z","timestamp":1340632928000},"page":"278-282","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Novel nonsense mutation in <scp><i>MSX<\/i><\/scp><i>1<\/i> causes tooth agenesis with cleft lip in a Chinese family"],"prefix":"10.1111","volume":"120","author":[{"given":"Jia","family":"Liang","sequence":"first","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) &amp; Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingling","family":"Zhu","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) &amp; Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liuyan","family":"Meng","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) &amp; Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"},{"name":"Department of Endodontics Hospital and School of Stomatology Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong","family":"Chen","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) &amp; Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010MOST) &amp; Key Laboratory of Oral Biomedicine Ministry of Education School &amp; Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,6,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.b.21277"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0889-5406(86)90022-3"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-5406(99)70258-1"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/74155"},{"key":"e_1_2_7_6_1","first-page":"851","article-title":"Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome","volume":"16","author":"Ye XQ","year":"2005","journal-title":"Int J Mol Med"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510366804"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-348"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910608500312"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208100410"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30181"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03194616"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-417"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0037-x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2008.02.012"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/321271"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910308201215"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.47"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.399"},{"key":"e_1_2_7_21_1","volume-title":"Molecular cloning: a laboratory manual","author":"Sambrook J","year":"2001"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400107"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.18.10.6044"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00021a026"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000127275.52925.05"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0006-4"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.4067\/S0034-98872004000700005"}],"container-title":["European Journal of Oral Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0722.2012.00965.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0722.2012.00965.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T02:25:37Z","timestamp":1698632737000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0722.2012.00965.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,25]]},"references-count":26,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["10.1111\/j.1600-0722.2012.00965.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0722.2012.00965.x","archive":["Portico"],"relation":{},"ISSN":["0909-8836","1600-0722"],"issn-type":[{"value":"0909-8836","type":"print"},{"value":"1600-0722","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,25]]},"assertion":[{"value":"2012-04-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2012-06-25","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}