{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:12Z","timestamp":1772160072154,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,7,2]],"date-time":"2022-07-02T00:00:00Z","timestamp":1656720000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    WNT\/\u03b2\u2010catenin and BMP signaling pathways play important roles in the process of tooth development. Dysregulation of WNT\/\u03b2\u2010catenin and BMP signaling is implicated in a number of human malformations, including dental anomalies. Whole exome and Sanger sequencing identified seven patients with\n                    <jats:italic>LRP5<\/jats:italic>\n                    mutations (p.Asn1121Asp, p.Asp856Asn, p.Val1433Met, and p.Val1245Met) and six patients with\n                    <jats:italic>BMP4<\/jats:italic>\n                    mutations (p.Asn150Lys, p.Gly168Arg, p.Arg269Gln, and p.Ala42Glu). All patients were affected with isolated dental anomalies (dental anomalies with no other structural defects), including mesiodens, tooth agenesis, unseparated roots, narrow roots, shortened and tapered roots, and taurodontism. Five patients with\n                    <jats:italic>LRP5<\/jats:italic>\n                    and one with\n                    <jats:italic>BMP4<\/jats:italic>\n                    mutations had oral exostoses. Protein models of\n                    <jats:italic>LRP5<\/jats:italic>\n                    mutations indicate the possible functional effects of the mutations. Here we report for the first time that mutations in\n                    <jats:italic>LRP5<\/jats:italic>\n                    are associated with dental anomalies.\n                    <jats:italic>LRP5<\/jats:italic>\n                    appears to be the first gene related to pathogenesis of mesiodens. We also show for the first time that in addition to tooth agenesis, mutations in\n                    <jats:italic>BMP4<\/jats:italic>\n                    are also implicated in root maldevelopment and torus mandibularis. Sharing of the phenotypes of the patients with\n                    <jats:italic>LRP5<\/jats:italic>\n                    and\n                    <jats:italic>BMP4<\/jats:italic>\n                    mutations, which include root maldevelopment, tooth agenesis, and torus mandibularis, implicates cross talks between the WNT\/\u03b2\u2010catenin and BMP signaling pathways, especially during root development.\n                  <\/jats:p>","DOI":"10.1111\/cge.14183","type":"journal-article","created":{"date-parts":[[2022,6,26]],"date-time":"2022-06-26T22:39:00Z","timestamp":1656283140000},"page":"333-338","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Mutations in\n                    <scp>\n                      <i>LRP5<\/i>\n                    <\/scp>\n                    and\n                    <scp>\n                      <i>BMP4<\/i>\n                    <\/scp>\n                    are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9841-0881","authenticated-orcid":false,"given":"Piranit Nik","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"}]},{"given":"Yeliz","family":"Guven","sequence":"additional","affiliation":[{"name":"Department of Pedodontics, Faculty of Dentistry Istanbul University  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kanich","family":"Tripuwabhrut","sequence":"additional","affiliation":[{"name":"Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ploy","family":"Adisornkanj","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"},{"name":"Dental Department Sawang Daen Din Crown Prince Hospital  Sakon Nakhon Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Athiwat","family":"Hatsadaloi","sequence":"additional","affiliation":[{"name":"Dental Home Clinic  Khon Kaen Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massupa","family":"Kaewgahya","sequence":"additional","affiliation":[{"name":"Center of Excellence in Medical Genetics Research, Faculty of Dentistry Chiang Mai University  Chiang Mai Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjorn","family":"Olsen","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology Harvard School of Dental Medicine, Harvard University  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chumpol","family":"Ngamphiw","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA)  Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peeranat","family":"Jatooratthawichot","sequence":"additional","affiliation":[{"name":"School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application Suranaree University of Technology  Nakhon Ratchasima Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sissades","family":"Tongsima","sequence":"additional","affiliation":[{"name":"National Biobank of Thailand National Science and Technology Development Agency (NSTDA)  Pathum Thani Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James R.","family":"Ketudat Cairns","sequence":"additional","affiliation":[{"name":"School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application Suranaree University of Technology  Nakhon Ratchasima Thailand"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,7,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.10.016"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2019.05.012"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.081927"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a007880"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/JBMR.041223"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2020.115550"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010009\u20101287\u20106"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12055"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010021\u201003819\u20102"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910708601013"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.adaj.2021.12.009"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.137216"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678\u20107757\u20102021\u20100281"}],"container-title":["Clinical 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