{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:11Z","timestamp":1790833811946,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T00:00:00Z","timestamp":1172102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Phenotypic characteristics expressed in syndromes give clues to the factors involved in the cause of isolated forms of the same defects. We investigated two genes responsible for craniofacial syndromes,<jats:italic>FGFR1<\/jats:italic>and<jats:italic>IRF6<\/jats:italic>, in a collection of families with isolated tooth agenesis. Cheek swab samples were obtained for DNA analysis from 116 case\/parent trios. Probands had at least one developmentally missing tooth, excluding third molars. In addition, we studied 89 cases and 50 controls from Ohio to replicate any positive findings. Genotyping was performed by kinetic polymerase chain\u2010reaction or TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. The same variants in the<jats:italic>IRF6<\/jats:italic>gene that are associated with isolated orofacial clefts are also associated with human tooth agenesis (rs861019,<jats:italic>P<\/jats:italic>\u2009=\u20090.058; rs17015215\u2014V274I,<jats:italic>P<\/jats:italic>\u2009=\u20090.0006; rs7802,<jats:italic>P<\/jats:italic>\u2009=\u20090.004). Mutations in<jats:italic>IRF6<\/jats:italic>cause Van der Woude and popliteal pterygium syndromes. The craniofacial phenotypic characteristics of these syndromes include oral clefts and preferential tooth agenesis of incisors and premolars, besides pits on the lower lips. Also it appears that preferential premolar agenesis is associated with<jats:italic>FGFR1<\/jats:italic>(<jats:italic>P<\/jats:italic>\u2009=\u20090.014) and<jats:italic>IRF6<\/jats:italic>(<jats:italic>P<\/jats:italic>\u2009=\u20090.002) markers. There were statistically significant data suggesting that<jats:italic>IRF6<\/jats:italic>interacts not only with<jats:italic>MSX1<\/jats:italic>(<jats:italic>P<\/jats:italic>\u2009=\u20090.001), but also with<jats:italic>TGFA<\/jats:italic>(<jats:italic>P<\/jats:italic>\u2009=\u20090.03). \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31620","type":"journal-article","created":{"date-parts":[[2007,2,22]],"date-time":"2007-02-22T22:59:58Z","timestamp":1172185198000},"page":"538-545","source":"Crossref","is-referenced-by-count":81,"title":["Interferon regulatory factor 6 (<i>IRF6<\/i>) and fibroblast growth factor receptor 1 (<i>FGFR1<\/i>) contribute to human tooth agenesis"],"prefix":"10.1002","volume":"143A","author":[{"given":"Alexandre R.","family":"Vieira","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Modesto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Meira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Renata Schneider","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew C.","family":"Lidral","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/16.2.182"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.15.6624"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302585"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.285.5426.409"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30887"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2003)040<0343:DABGQA>2.0.CO;2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1122"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajpa.1330390113"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201486"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.1978.0054"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V95.5.1788.005k15_1788_1796"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200625"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.10295"},{"key":"e_1_2_6_15_1","first-page":"857","volume-title":"Smith's recognizable patterns of human malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/386293"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/02844319850158831"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208100410"},{"key":"e_1_2_6_20_1","first-page":"9","article-title":"Anomalies in number of teeth in patients with lip and\/or palate clefts","volume":"2","author":"Lopes LD","year":"1991","journal-title":"Braz Dent J"},{"key":"e_1_2_6_21_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/oso\/9780195139068.003.0012","volume-title":"Cleft lip and palate. 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