{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:54:00Z","timestamp":1772160840341,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,3,13]],"date-time":"2023-03-13T00:00:00Z","timestamp":1678665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To identify the molecular etiology of distinct dental anomalies found in eight Thai patients and explore the mutational effects on cellular functions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>Clinical and radiographic examinations were performed for eight patients. Whole exome sequencing, mutant protein modelling, qPCR, western blot analysis, scratch assays, immunofluorescence, confocal analysis, in situ hybridization, and scanning electron micrography of teeth were done.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All patients had molars with multiple supernumerary cusps, single\u2010cusped premolars, and a reduction in root number. Mutation analysis highlighted a heterozygous c.865A&gt;G; p.Ile289Val mutation in\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      in the patients. CACNA1S is a component of the slowly inactivating L\u2010type voltage\u2010dependent calcium channel. Mutant protein modeling suggested that the mutation might allow leakage of Ca\n                      <jats:sup>2+<\/jats:sup>\n                      or other cations, or a tightening, to restrict calcium flow. Immunohistochemistry analysis showed expression of Cacna1s in the developing murine tooth epithelium during stages of crown and root morphogenesis. In cell culture, the mutation resulted in abnormal cell migration of transfected CHO cells compared to wildtype\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      , with changes to the cytoskeleton and markers of focal adhesion.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The malformations observed in our patients suggest a role for calcium signaling in organization of both cusps and roots, affecting cell dynamics within the dental epithelium.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14551","type":"journal-article","created":{"date-parts":[[2023,2,24]],"date-time":"2023-02-24T04:14:46Z","timestamp":1677212086000},"page":"1350-1359","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["<i>CACNA1S<\/i>\n                    mutation\u2010associated dental anomalies: A calcium channelopathy"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"P.","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Faculty of Dentistry, Chiang Mai University  Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1229-5964","authenticated-orcid":false,"given":"A.","family":"Butali","sequence":"additional","affiliation":[{"name":"Iowa Institute of Oral Health Research University of Iowa  Iowa City Iowa USA"},{"name":"Department of Oral Pathology, Radiology and Medicine, College of Dentistry University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Eliason","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, Craniofacial Anomalies Research Center University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Chalkley","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, Craniofacial Anomalies Research Center University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Nakornchai","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry, Faculty of Dentistry Mahidol University  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Bongkochwilawan","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Faculty of Dentistry, Chiang Mai University  Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Kawasaki","sequence":"additional","affiliation":[{"name":"Division of Oral Anatomy, Department of Oral Biological Science Niigata University Graduate School of Medical and Dental Sciences  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kumchiang","sequence":"additional","affiliation":[{"name":"Na\u2010Chauk Hospital  Na\u2010Chauk Maha Sarakham Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Ngamphiw","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA), Thailand Science Park  Khlong Luang Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Tongsima","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA), Thailand Science Park  Khlong Luang Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. R.","family":"Ketudat\u00a0Cairns","sequence":"additional","affiliation":[{"name":"Center for Biomolecular Structure, Function and Application, School of Chemistry, Institute of Science Suranaree University of Technology  Nakhon Ratchasima Thailand"},{"name":"Laboratory of Biochemistry Chulabhorn Research Institute  Bangkok Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6070-231X","authenticated-orcid":false,"given":"B.","family":"Olsen","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology Harvard School of Dental Medicine  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Intachai","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research Faculty of Dentistry, Chiang Mai University  Chiang Mai Thailand"},{"name":"Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3496-0347","authenticated-orcid":false,"given":"A.","family":"Ohazama","sequence":"additional","affiliation":[{"name":"Division of Oral Anatomy, Department of Oral Biological Science Niigata University Graduate School of Medical and Dental Sciences  Niigata Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. 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