{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:53:50Z","timestamp":1772160830057,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,5,31]],"date-time":"2022-05-31T00:00:00Z","timestamp":1653955200000},"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":["81500828"],"award-info":[{"award-number":["81500828"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007937","name":"Peking University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007937","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To investigate the pathogenic gene of a patient with nonsyndromic oligodontia, and analyze its possible pathogenic mechanism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Subjects and methods<\/jats:title>\n                    <jats:p>The variant was detected by whole exome sequencing (WES) and Sanger sequencing in a family with oligodontia. Bioinformatic and structural analyses were used to analyze variant. Functional studies including western blotting and immunofluorescent analyses and luciferase reporter assay were conducted to explore the functional effects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified a novel frameshift variant of\n                      <jats:italic>PAX9<\/jats:italic>\n                      (c.491\u2010510delGCCCT\u2010ATCACGGCGGCGGCC, p.P165Qfs*145) outside the DNA\u2010binding domain causing an autosomal\u2010dominant nonsyndromic oligodontia in a Chinese family. Bioinformatic and structural analyses revealed that the variant is pathogenic and conserved evolutionarily, and the changes might affect protein stability or folding. Functional studies demonstrate dramatically reduced ability in activating transcription activity of\n                      <jats:italic>BMP4<\/jats:italic>\n                      promoter and a marked decrease in protein production, as evaluated by western blotting and immunofluorescent analyses.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We found a novel frameshift variant of\n                      <jats:italic>PAX9<\/jats:italic>\n                      causing nonsyndromic oligodontia in a Chinese family. Our findings indicate that frameshift variants cause loss of function of PAX9 protein during the patterning of the dentition and the subsequent tooth agenesis, providing new molecular insights into the role of frameshift variant of\n                      <jats:italic>PAX9<\/jats:italic>\n                      and broaden the pathogenic spectrum of\n                      <jats:italic>PAX9<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14259","type":"journal-article","created":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T23:25:05Z","timestamp":1653089105000},"page":"2177-2187","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4148-3913","authenticated-orcid":false,"given":"Ruiqing","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry Peking University School and Hospital of Stomatology &amp; National Engineering Research Center of Oral Biomaterials and Digital Medical Devices &amp; Research Center of Engineering and Technology for Digital Dentistry of Ministry of Health &amp; Beijing Key Laboratory of Digital Stomatology &amp; National Clinical Research Center for Oral Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuangying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Yinchuan Stomatology Hospital  Ningxia China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bin","family":"Xia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Peking University School and Hospital of Stomatology &amp; National Engineering Research Center of Oral Biomaterials and Digital Medical Devices &amp; Research Center of Engineering and Technology for Digital Dentistry of Ministry of Health &amp; Beijing Key Laboratory of Digital Stomatology &amp; National Clinical Research Center for Oral Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6050-0643","authenticated-orcid":false,"given":"Junxia","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Dentistry Peking University School and Hospital of Stomatology &amp; National Engineering Research Center of Oral Biomaterials and Digital Medical Devices &amp; Research Center of Engineering and Technology for Digital Dentistry of Ministry of Health &amp; Beijing Key Laboratory of Digital Stomatology &amp; National Clinical Research Center for Oral Diseases  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,5,31]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12986"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.4317\/medoral.19158"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02594-X"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10011"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0699-1"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517724149"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.10.2292"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/0810129"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2016.07.009"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00407.x"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2015.10.022"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305648200"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201536"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12061"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12071"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.b.21277"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601543200"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.2004.00158.x"},{"issue":"3","key":"e_1_2_11_21_1","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.ortho.2015.06.008","article-title":"Meta\u2010analysis of congenitally missing teeth in the permanent dentition: Prevalence, variations across ethnicities, regions and time","volume":"13","author":"Rakhshan V.","year":"2015","journal-title":"International Orthodontics"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510390042"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.13684"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(05)80083-2"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp221"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000151448"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1590\/1679-775720130079"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517729322"},{"issue":"3","key":"e_1_2_11_31_1","first-page":"289","article-title":"Missing maxillary lateral incisors: A genetic study","volume":"23","author":"Woolf C. 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