{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:49:31Z","timestamp":1787014171183,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T00:00:00Z","timestamp":1461024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81470727"],"award-info":[{"award-number":["81470727"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81120108010"],"award-info":[{"award-number":["81120108010"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>\n                    Tooth agenesis is a congenital anomaly frequently seen in humans. Several genes have been associated with non\u2010syndromic tooth agenesis, including msh homeobox 1 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">MSX<\/jats:styled-content>\n                      1\n                    <\/jats:italic>\n                    ), paired box 9 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>\n                      9\n                    <\/jats:italic>\n                    ), axis inhibition protein 2 (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    ), ectodysplasin A (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">EDA<\/jats:styled-content>\n                    <\/jats:italic>\n                    ), and wingless\u2010type MMTV integration site family member 10A (\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">WNT<\/jats:styled-content>\n                      10A\n                    <\/jats:italic>\n                    ). In this study, we investigated a Chinese family with non\u2010syndromic tooth agenesis. A novel missense mutation (c.C1978T) in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    was identified in affected members. The mutation results in a His660Tyr substitution located between the Axin beta\u2010catenin binding domain and the\n                    <jats:styled-content style=\"fixed-case\">DIX<\/jats:styled-content>\n                    domain of the axis inhibition protein 2 (AXIN2). We analysed this novel\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutant, together with two reported\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutants [c.1966C&gt;T (p.Arg656Stop) and c.1994delG (p.Leu688Stop)] that cause colorectal cancer with and without oligodontia, to study the effect of the mutant p.His660Tyr on the Wnt\/\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010catenin signaling pathway and to compare the molecular pathogenesis of different\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutants in tooth agenesis and carcinogenesis. Further in vitro experiments indicated that the mutant p.His660Tyr caused inhibition of the Wnt\/\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010catenin pathway, and the mutants p.Arg656Stop and p.Leu688Stop resulted in over\u2010activation of the Wnt\/\n                    <jats:italic>\u03b2<\/jats:italic>\n                    \u2010catenin pathway. In line with previous\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutation studies, we suggest that\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>\n                      2\n                    <\/jats:italic>\n                    mutations with different levels of severity may have distinct effects on the Wnt pathway and the phenotype of disease. Our study provides functional evidence supporting the notion that both inhibition and over\u2010activation of the Wnt pathway may lead to tooth agenesis.\n                  <\/jats:p>","DOI":"10.1111\/eos.12273","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T03:41:43Z","timestamp":1461037303000},"page":"228-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Functional analysis of a novel missense mutation in\n                    <i>\n                      <scp>AXIN<\/scp>\n                      2\n                    <\/i>\n                    associated with non\u2010syndromic tooth agenesis"],"prefix":"10.1111","volume":"124","author":[{"given":"Haitang","family":"Yue","sequence":"first","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010 MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School and Hospital of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia","family":"Liang","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010 MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School and Hospital of Stomatology Wuhan University Wuhan China"},{"name":"Department of Endodontics Hospital and School of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Yang","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010 MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School and Hospital of Stomatology Wuhan University Wuhan China"},{"name":"Department of Endodontics Hospital and School of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Hua","sequence":"additional","affiliation":[{"name":"Department of Endodontics Dental Centre in Hankou Outpatient Department Hospital and School of Stomatology Wuhan University Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuan","family":"Bian","sequence":"additional","affiliation":[{"name":"The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei\u2010 MOST) and Key Laboratory of Oral Biomedicine Ministry of Education School and Hospital of Stomatology Wuhan University Wuhan 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