{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T22:26:41Z","timestamp":1791066401345,"version":"4.1.0"},"reference-count":30,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2002,4,1]],"date-time":"2002-04-01T00:00:00Z","timestamp":1017619200000},"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":[[2002,4]]},"abstract":"<jats:p>MSX1 has a critical role in craniofacial development, as indicated by expression assays and transgenic mouse phenotypes. Previously, MSX1 mutations have been identified in three families with autosomal-dominant tooth agenesis. To test the hypothesis that MSX1 mutations are a common cause of congenital tooth agenesis, we screened 92 affected individuals, representing 82 nuclear families, for mutations, using single-strand conformation analysis. A Met61Lys substitution was found in two siblings from a large family with autosomal-dominant tooth agenesis. Complete concordance of the mutation with tooth agenesis was observed in the extended family. The siblings have a pattern of severe tooth agenesis similar that in to previous reports, suggesting that mutations in MSX1 are responsible for a specific pattern of inherited tooth agenesis. Supporting this theory, no mutations were found in more common cases of incisor or premolar agenesis, indicating that these have a different etiology.<\/jats:p>","DOI":"10.1177\/154405910208100410","type":"journal-article","created":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T19:39:42Z","timestamp":1231443582000},"page":"274-278","source":"Crossref","is-referenced-by-count":150,"title":["The Role of MSX1 in Human Tooth Agenesis"],"prefix":"10.1177","volume":"81","author":[{"given":"A.C.","family":"Lidral","sequence":"first","affiliation":[{"name":"Department of Orthodontics, University of Iowa, 140 EMRB, Iowa City, IA 52242, USA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.C.","family":"Reising","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, University of Iowa, 140 EMRB, Iowa City, IA 52242, USA;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2002,4,1]]},"reference":[{"key":"BEATY-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1016\/S1047-2797(01)00222-8"},{"key":"BLANCO-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1353\/hub.2001.0002"},{"key":"CATRON-ETAL-1995","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.15.2.861"},{"key":"CATRON-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4773(96)00503-5"},{"key":"EKKER-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.molbev.a025707"},{"key":"FERGUSON-1994","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-329"},{"key":"GORLIN-1990","unstructured":"Gorlin RJ -1990- Syndromes of the head and neck. 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