{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T23:16:53Z","timestamp":1791155813223,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,12,1]],"date-time":"2013-12-01T00:00:00Z","timestamp":1385856000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cherubism is a rare genetic disorder characterized by progressive facial deformity caused by non\u2010neoplastic bone lesions in the mandible and\/or the maxilla. Src homology\u20103 binding protein 2 gene (<jats:italic><jats:styled-content style=\"fixed-case\">SH3BP2<\/jats:styled-content><\/jats:italic>) has been found to be the responsible gene, with alterations in six amino acids noted in patients with this condition. Recently, mutations in this domain have been found to cause stabilization of <jats:styled-content style=\"fixed-case\">SH3BP2<\/jats:styled-content> by uncoupling with tankyrase. In this study, we identified a new 2\u2010bp mutation that led to a recurrent amino acid change in a sporadic case of cherubism. Our findings indicate that it is important to understand the pattern of progress in typical cherubism.<\/jats:p>","DOI":"10.1111\/cga.12013","type":"journal-article","created":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T12:23:35Z","timestamp":1360153415000},"page":"166-169","source":"Crossref","is-referenced-by-count":7,"title":["Novel nucleotide mutation leading to a recurrent amino acid alteration in <i><scp>SH3BP2<\/scp><\/i> in a patient with cherubism"],"prefix":"10.1111","volume":"53","author":[{"given":"Noriko","family":"Sangu","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery School of Medicine Tokyo Women's Medical University  Tokyo"},{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsuyoshi","family":"Shimosato","sequence":"additional","affiliation":[{"name":"Department of oral and maxillofacial surgery Kyoto Second Red Cross Hospital  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirosato","family":"Inoda","sequence":"additional","affiliation":[{"name":"Department of oral and maxillofacial surgery Kyoto Second Red Cross Hospital  Kyoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shino","family":"Shimada","sequence":"additional","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Shimojima","sequence":"additional","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Ando","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery School of Medicine Tokyo Women's Medical University  Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Institute for Integrated Medical Sciences Tokyo Women's Medical University  Tokyo"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.182.4.1821051"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-0825.2008.01499.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oraloncology.2007.01.012"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oooo.2012.01.031"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(2003)040<0632:AMMITS>2.0.CO;2"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/ajc.1933.946"},{"key":"e_1_2_7_8_1","first-page":"209","article-title":"Investigation of the SH3BP2 gene mutation in cherubism","volume":"62","author":"Lee JY","year":"2008","journal-title":"Acta Med Okayama"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.10.045"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-7-84"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9433"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20226"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302454"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2443.2004.00784.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-S1-S6"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000314268"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/302456"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/88832"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12013","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T16:46:19Z","timestamp":1696265179000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/cga.12013"],"URL":"https:\/\/doi.org\/10.1111\/cga.12013","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12]]}}}