{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:53:56Z","timestamp":1772160836522,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,12,20]],"date-time":"2022-12-20T00:00:00Z","timestamp":1671494400000},"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":["81974145"],"award-info":[{"award-number":["81974145"]}],"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":["81771052"],"award-info":[{"award-number":["81771052"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Muscle segment homeobox gene 1 (\n                      <jats:italic>MSX1<\/jats:italic>\n                      ) is widely expressed in craniofacial development and tooth formation. The aim of this study was to report a novel\n                      <jats:italic>MSX1<\/jats:italic>\n                      mutation in a Chinese family with selective tooth agenesis and abnormal median maxillary labial frenum (MMLF).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>\n                      Mutation analysis was carried out by whole exome sequencing. The pMD18\u2010T vector was used to verify the mutations. PubMed and Human Gene Mutation Database were searched to analyze the relationship between the mutations in\n                      <jats:italic>MSX1<\/jats:italic>\n                      and related phenotypes.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel heterozygous mutation (c.75delG) in\n                      <jats:italic>MSX1<\/jats:italic>\n                      was detected in the proband and her mother. They presented as oligodontia and lower attached hypertrophy median maxillary labial frenum. 60\n                      <jats:italic>MSX1<\/jats:italic>\n                      mutations from 39 reports did not declare malformed MMLF except our cases. Meanwhile, we found that the types and sites of\n                      <jats:italic>MSX1<\/jats:italic>\n                      mutations may affect the selectivity of tooth agenesis and orofacial cleft.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This study suggests malformed MMLF as a new phenotype of\n                      <jats:italic>MSX1<\/jats:italic>\n                      mutation and a specific relationship between\n                      <jats:italic>MSX1<\/jats:italic>\n                      genotype and phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14459","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T10:09:03Z","timestamp":1670407743000},"page":"3168-3172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>MSX1<\/i>\n                    involved selective tooth agenesis and abnormal labial frenum, pedigree, and retrospective study"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3432-4807","authenticated-orcid":false,"given":"Yulong","family":"Zhu","sequence":"first","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2497-1165","authenticated-orcid":false,"given":"Yanli","family":"Zhang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Dong","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3452-3005","authenticated-orcid":false,"given":"Wenyan","family":"Ruan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaoqing","family":"Yang","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ping","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6747-1734","authenticated-orcid":false,"given":"Xiaohong","family":"Duan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, National Clinical Research Center for Oral Disease; Shaanxi Key Laboratory of Stomatology; Department of Oral Biology, Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology The Fourth Military Medical University  Xi'an China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jormas.2017.06.018"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12804"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910608500312"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/0890334413491325"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.78"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103926"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.01.031"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/2333794X17718896"},{"issue":"6","key":"e_1_2_7_10_1","first-page":"443","article-title":"Frenulum labii superioris. Anatomical variations and abnormalities","volume":"73","author":"Sewerin I.","year":"1969","journal-title":"Tandlaegebladet"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016359509005962"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12931"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41368\u2010020\u201000106\u20100"}],"container-title":["Oral Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/odi.14459","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/odi.14459","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/odi.14459","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,25]],"date-time":"2024-07-25T08:42:39Z","timestamp":1721896959000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/odi.14459"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,20]]},"references-count":12,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/odi.14459"],"URL":"https:\/\/doi.org\/10.1111\/odi.14459","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/ODI.14459\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/ODI.14459\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/ODI.14459\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/ODI.14459\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/ODI.14459\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/ODI.14459\/v1\/decision1","asserted-by":"object"}]},"ISSN":["1354-523X","1601-0825"],"issn-type":[{"value":"1354-523X","type":"print"},{"value":"1601-0825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,20]]},"assertion":[{"value":"2022-09-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-05","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-20","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}