{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T04:57:35Z","timestamp":1779166655639,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,2,14]],"date-time":"2015-02-14T00:00:00Z","timestamp":1423872000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant Agency CR","award":["GB14-37368G"],"award-info":[{"award-number":["GB14-37368G"]}]},{"name":"Internal Grant Agency CR","award":["NT11420-6"],"award-info":[{"award-number":["NT11420-6"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Tooth agenesis is one of the most common developmental anomalies in humans. To date, many mutations involving paired box 9 (<jats:italic>PAX9<\/jats:italic>), msh homeobox 1 (<jats:italic>MSX1<\/jats:italic>), and axin 2 (<jats:italic>AXIN2<\/jats:italic>) genes have been identified. The aim of the present study was to perform screening for mutations and\/or polymorphisms using the capillary sequencing method in the critical regions of <jats:italic>PAX9<\/jats:italic> and <jats:italic>MSX1<\/jats:italic> genes in a group of 270 individuals with tooth agenesis and in 30 healthy subjects of Czech origin. This screening revealed a previously unknown heterozygous g.9527G&gt;T mutation in the <jats:italic>PAX9<\/jats:italic> gene in monozygotic twins with oligodontia and three additional affected family members. The same variant was not found in healthy relatives. This mutation is located in intron 2, in the region recognized as the splice site between exon 2 and intron 2. We hypothesize that the error in pre\u2010<jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> splicing may lead to lower expression of PAX9 protein and could have contributed to the development of tooth agenesis in the affected subjects.<\/jats:p>","DOI":"10.1111\/eos.12170","type":"journal-article","created":{"date-parts":[[2015,2,14]],"date-time":"2015-02-14T05:51:36Z","timestamp":1423893096000},"page":"65-71","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the <i><scp>PAX<\/scp>9<\/i> gene"],"prefix":"10.1111","volume":"123","author":[{"given":"Omar","family":"\u0160er\u00fd","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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ond\u0159ej","family":"Bonczek","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":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena","family":"Hlou\u0161kov\u00e1","sequence":"additional","affiliation":[{"name":"Laboratory of DNA Diagnostics Department of Biochemistry Faculty of Science Masaryk University Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavl\u00edna","family":"\u010cernochov\u00e1","sequence":"additional","affiliation":[{"name":"Clinic of Stomatology Faculty of Medicine Masaryk University and St. Anne's University Hospital Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji\u0159\u00ed","family":"Van\u011bk","sequence":"additional","affiliation":[{"name":"Clinic of Stomatology Faculty of Medicine Masaryk University and St. Anne's University Hospital Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ivan","family":"M\u00ed\u0161ek","sequence":"additional","affiliation":[{"name":"Laboratory of Animal Embryology Institute of Animal Physiology and Genetics The Academy of Sciences of the Czech Republic Brno Czech Republic"},{"name":"Clinic of Stomatology Faculty of Medicine Masaryk University and St. Anne's University Hospital Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u0159emysl","family":"Krej\u010d\u00ed","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Dentistry Institute of Dentistry and Oral Sciences Palack\u00fd University Olomouc Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydie","family":"Izakovi\u010dov\u00e1 Holl\u00e1","sequence":"additional","affiliation":[{"name":"Clinic of Stomatology Faculty of Medicine Masaryk University and St. Anne's University Hospital Brno Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,2,14]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-5406(00)70173-9"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0528.2004.00158.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/000163501750157298"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2012.01193.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2012.00965.x"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208100410"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12071"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910808700715"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/321271"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2008.00699.x"},{"key":"e_1_2_7_12_1","first-page":"44","article-title":"Sequencing of the region of the PAX9 gene and possible connection between discovered polymorphisms and tooth agenesis","volume":"23","author":"Hlou\u0161kov\u00e1 A","year":"2014","journal-title":"Ortodoncie"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910508400107"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01529.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0810129"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2007.00517.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2011.03.023"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00299-001-0399-7"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.b.21277"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.archoralbio.2008.05.017"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00056-013-0138-z"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2010.01488.x"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90563-0"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.02.009"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/28.21.4364"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003359900351"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1115"}],"container-title":["European Journal of Oral Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Feos.12170","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/eos.12170","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:25:36Z","timestamp":1696325136000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/eos.12170"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,14]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1111\/eos.12170"],"URL":"https:\/\/doi.org\/10.1111\/eos.12170","archive":["Portico"],"relation":{},"ISSN":["0909-8836","1600-0722"],"issn-type":[{"value":"0909-8836","type":"print"},{"value":"1600-0722","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2,14]]},"assertion":[{"value":"2014-12-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2015-02-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}