{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T17:32:44Z","timestamp":1775151164661,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T00:00:00Z","timestamp":1386720000000},"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":[[2014,2]]},"abstract":"<jats:p>Nonsyndromic tooth agenesis is one of the most common anomalies in human development. Part of the malformation is inherited and is associated with paired box 9 (<jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>9<\/jats:italic>), msh homeobox 1 (<jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic>), and axin 2 (<jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic>) mutations. To obtain a comprehensive understanding of the genetic and molecular mechanisms that underlie this genetic disease, we investigated six familial and seven sporadic Japanese cases of nonsyndromic tooth agenesis. Searches for mutations in these candidate genes detected a novel nonsense mutation (c.416G&gt;A) in exon 1 of <jats:italic><jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1<\/jats:italic> from a family with oligodontia. This mutation co\u2010segregated in the affected family members. Moreover, this mutation produced a termination codon in the first exon and therefore the gene product (W139X) was truncated at the C terminus, hence, the entire homeodomain\/MH4, which has many functions, such as DNA binding, protein\u2010protein interaction, and nuclear localization, was absent. We characterized the properties of this truncated <jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1 by investigating the subcellular localization of the mutant gene product in transfected cells. The wild\u2010type <jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1 localized exclusively at the nuclear periphery of transfected cells, whereas the mutant <jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1 was stable but localized diffusely throughout the whole cell. These results indicate that W139X <jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>1 is responsible for tooth agenesis.<\/jats:p>","DOI":"10.1111\/eos.12105","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T13:40:23Z","timestamp":1386769223000},"page":"15-20","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Novel nonsense mutation in <i><scp>MSX<\/scp>1<\/i> in familial nonsyndromic oligodontia: subcellular localization and role of homeodomain\/<scp>MH<\/scp>4"],"prefix":"10.1111","volume":"122","author":[{"given":"Masashi","family":"Kimura","sequence":"first","affiliation":[{"name":"Department of Maxillofacial Surgery Aichi\u2010Gakuin University School of Dentistry Nagoya Japan"},{"name":"Department of Perinatology Institute for Developmental Research Aichi\u2010Human Service Center Kasugai 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