{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T02:27:16Z","timestamp":1789871236743,"version":"4.0.1"},"reference-count":62,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,3,30]],"date-time":"2017-03-30T00:00:00Z","timestamp":1490832000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministry of Health of the Czech Republic","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:p>Paired box 9 (<jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content>) is one of the best\u2010known transcription factors involved in the development of human dentition. Mutations in <jats:italic><jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> gene could, therefore, seriously influence the number, position and morphology of the teeth in an affected individual. To date, over 50 mutations in the gene have been reported as associated with various types of dental agenesis (congenitally missing teeth) and other inherited dental defects or variations. The most common consequence of <jats:italic><jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> gene mutation is the autosomal\u2010dominant isolated (non\u2010syndromic) oligodontia or hypodontia.<\/jats:p><jats:p>In the present review, we are summarizing all known <jats:italic><jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> mutations as well as their nature and precise loci in the <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequence of the gene. Where necessary, we have revised the loci of the mutations in line with the reference sequence of the <jats:italic>\n<jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> gene as it appears in the current <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> databases.<\/jats:p>","DOI":"10.1111\/cge.12986","type":"journal-article","created":{"date-parts":[[2017,2,3]],"date-time":"2017-02-03T04:27:28Z","timestamp":1486096048000},"page":"467-476","source":"Crossref","is-referenced-by-count":54,"title":["<i><scp>PAX9<\/scp><\/i> gene mutations and tooth agenesis: A review"],"prefix":"10.1111","volume":"92","author":[{"given":"O.","family":"Bonczek","sequence":"first","affiliation":[{"name":"Laboratory of DNA Diagnostics, Department of Biochemistry, Faculty of Science Masaryk University  Brno Czech Republic"},{"name":"Laboratory of Animal Embryology, Institute of Animal Physiology and Genetics The Academy of Sciences of the Czech Republic  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.J.","family":"Balcar","sequence":"additional","affiliation":[{"name":"Laboratory of Neurochemistry, Bosch Institute and Discipline of Anatomy and Histology, School of medical sciences, Sydney Medical School The University of Sydney  Sydney NSW Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6062-8997","authenticated-orcid":false,"given":"O.","family":"\u0160er\u00fd","sequence":"additional","affiliation":[{"name":"Laboratory of DNA Diagnostics, Department of Biochemistry, Faculty of Science Masaryk University  Brno Czech Republic"},{"name":"Laboratory of Animal Embryology, Institute of Animal Physiology and Genetics The Academy of Sciences of the Czech Republic  Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.091785"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034515583999"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0057649"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2015.05.035"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.90"},{"key":"e_1_2_6_7_1","first-page":"452","article-title":"Novel PAX9 gene polymorphisms and mutations and susceptibility to tooth agenesis in the Czech population","volume":"36","author":"Hlou\u0161kov\u00e1 A","year":"2015","journal-title":"Neuro Endocrinol Lett"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12170"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2012.00986.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2005.02.003"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2007.00517.x"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-733"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016357.2013.822547"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1678-77572007000500002"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01529.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400107"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2015.10.022"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2010.01488.x"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2016.07.009"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2012.01193.x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000151448"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0051533"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.06.004"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12071"},{"key":"e_1_2_6_25_1","first-page":"ZD08","article-title":"A nonsyndromic autosomal dominant oligodontia with a novel mutation of PAX9\u2010A clinical and genetic report","volume":"9","author":"Thimmegowda U","year":"2015","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10011"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034513519801"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201060"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1066-6"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31993"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0073705"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0722.2003.00036.x"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34045"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2007.00492.x"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305648200"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201574"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034510390042"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200715"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2007.00457.x"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201536"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2010.10.020"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/cjp155"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.4238\/2013.October.10.10"},{"key":"e_1_2_6_45_1","first-page":"e55","article-title":"Tooth agenesis in a family and homozygous PAX9 mutation in exon 3: a case report","volume":"9","author":"Kula K","year":"2008","journal-title":"World J Orthod"},{"key":"e_1_2_6_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2011.03.023"},{"key":"e_1_2_6_47_1","first-page":"490","article-title":"Identification of mutation in PAX9 gene in a Mongolian family with non\u2010syndromic Oligodontia","volume":"48","author":"Chen YJ","year":"2013","journal-title":"Zhonghua Kou Qiang Yi Xue Za Zhi"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2006.00367.x"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1590\/1679-775720130079"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1177\/0810129"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.8.971"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0699-1"},{"key":"e_1_2_6_53_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.e47"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21135"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100721"},{"key":"e_1_2_6_56_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2014.123"},{"key":"e_1_2_6_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37691"},{"key":"e_1_2_6_58_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0509562103"},{"key":"e_1_2_6_59_1","doi-asserted-by":"publisher","DOI":"10.4238\/2014.November.28.4"},{"key":"e_1_2_6_60_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-263X.2008.00915.x"},{"key":"e_1_2_6_61_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2008.01.014"},{"key":"e_1_2_6_62_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034514527617"},{"key":"e_1_2_6_63_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep19162"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12986","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12986","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:14:50Z","timestamp":1694322890000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12986"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,30]]},"references-count":62,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/cge.12986"],"URL":"https:\/\/doi.org\/10.1111\/cge.12986","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,30]]}}}