{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T21:03:24Z","timestamp":1781643804689,"version":"3.54.5"},"reference-count":28,"publisher":"SAGE Publications","issue":"9","license":[{"start":{"date-parts":[[2006,9,1]],"date-time":"2006-09-01T00:00:00Z","timestamp":1157068800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2006,9]]},"abstract":"<jats:p>Odontogenic keratocysts are relatively common lesions that may occur in isolation or in association with nevoid basal cell carcinoma syndrome (or Gorlin syndrome). The PTCH gene has been reported to be associated with Gorlin syndrome. We investigated 10 cases of non-syndromic keratocysts and two other cases associated with Gorlin syndrome, looking for PTCH mutations. Four novel and 1 known PTCH mutations were identified in five individual patients. Of the 5 mutations identified, 2 were germ-line mutations (2619C&gt;A; 1338_1339insGCG) in 2 cysts associated with Gorlin syndrome, and 3 were somatic mutations (3124_3129dupGTGTGC; 1361_1364delGTCT; 3913G&gt;T) in 3 non-syndromic cysts. This report describes PTCH mutations in both non-syndromic and Gorlin-syndrome-related odontogenic keratocysts in Chinese patients, and suggests that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic keratocysts.<\/jats:p>","DOI":"10.1177\/154405910608500916","type":"journal-article","created":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T19:39:42Z","timestamp":1231443582000},"page":"859-863","source":"Crossref","is-referenced-by-count":52,"title":["<i>PTCH<\/i>\n                    Mutations in Sporadic and Gorlin-syndrome-related Odontogenic Keratocysts"],"prefix":"10.1177","volume":"85","author":[{"given":"X.-M.","family":"Gu","sequence":"first","affiliation":[{"name":"Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and"},{"name":"Center for Human Disease Genomics, Peking University Health Science Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.-S.","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and"},{"name":"Center for Human Disease Genomics, Peking University Health Science Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.-S.","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and"},{"name":"Center for Human Disease Genomics, Peking University Health Science Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.-J.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Hospital and School of Stomatology, Peking University, 22 South Zhongguancun Avenue, Haidian District, Beijing 100081, PR China; and"},{"name":"Center for Human Disease Genomics, Peking University Health Science Center"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2006,9,1]]},"reference":[{"key":"BARRETO-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1177\/00220345000790061101"},{"key":"BODAK-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.9.5117"},{"key":"BOUTET-ETAL-2003","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2003.12423.x"},{"key":"BROWNE-1971","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bdj.4802732"},{"key":"CHIDAMBARAM-ETAL-1996","unstructured":"Chidambaram A, Goldstein AM, Gailani MR, Gerrard B, Bal SJ, DiGiovanna JJ,\n                      et al.\n                      (1996). Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. Cancer Res 56:4599\u20134601."},{"key":"COBOURNE-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01163"},{"key":"DASSULE-ETAL-2000","doi-asserted-by":"crossref","unstructured":"Dassule HR, Lewis P, Bei M, Maas R, McMahon AP (2000). Sonic hedgehog regulates growth and morphogenesis of the tooth. Development 127:4775\u20134785.","DOI":"10.1242\/dev.127.22.4775"},{"key":"DEN-DUNNEN-AND-ANTONARAKIS-2000","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"EVANS-AND-FARNDON-2004","unstructured":"Evans DG, Farndon PA (2004). Nevoid basal cell carcinoma syndrome.\n                      Gene Review\n                      , at www.genetests.org."},{"key":"FUJII-ETAL-2003","doi-asserted-by":"crossref","unstructured":"Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K,\n                      et al.\n                      (2003). Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. Hum Mutat 21:451\u2013452.","DOI":"10.1002\/humu.9132"},{"key":"GAILANI-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/ng0996-78"},{"key":"GORLIN-1987","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-198703000-00002"},{"key":"HAHN-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81268-4"},{"key":"HARDCASTLE-ETAL-1998","doi-asserted-by":"crossref","unstructured":"Hardcastle Z, Mo R, Hui CC, Sharpe PT (1998). The Shh signaling pathway in tooth development: defects in Gli2 and Gli3 mutants. Development 125:2803\u20132811.","DOI":"10.1242\/dev.125.15.2803"},{"key":"JOHNSON-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5268.1668"},{"key":"KIMONIS-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M"},{"key":"LENCH-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050541"},{"key":"LEVANAT-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/ng0196-85"},{"key":"LI-ETAL-1994","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1994.tb01110.x"},{"key":"LO-MUZIO-ETAL-1999A","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.550106.x"},{"key":"LO-MUZIO-ETAL-1999B","doi-asserted-by":"publisher","DOI":"10.14219\/jada.archive.1999.0276"},{"key":"OHKI-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2004.01.013"},{"key":"RICHARDS-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050635"},{"key":"STONE-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/384129a0"},{"key":"STRANGE-ETAL-2004","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2004.00132.x"},{"key":"STRUTT-ETAL-2001","doi-asserted-by":"crossref","unstructured":"Strutt H, Thomas C, Nakano Y, Stark D, Neave B, Taylor AM,\n                      et al.\n                      (2001). Mutations in the sterol-sensing domain of Patched suggest a role for vesicular trafficking in Smoothened regulation. Curr Biol 11:608\u2013613.","DOI":"10.1016\/S0960-9822(01)00179-8"},{"key":"VORECHOVSKY-ETAL-1997","unstructured":"Vorechovsky I, Unden AB, Sandstedt B, Toftgard R, Stahle-Backdahl M (1997). Trichoepitheliomas contain somatic mutations in the overexpressed PTCH gene: support for a gatekeeper mechanism in skin tumorigenesis. Cancer Res 57:4677\u20134681."},{"key":"XIE-ETAL-1997","unstructured":"Xie J, Johnson RL, Zhang X, Bare JW, Waldman FM, Cogen PH,\n                      et al.\n                      (1997). Mutations of the PATCHED gene in several types of sporadic extracutaneous tumors. Cancer Res 57:2369\u20132372."}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910608500916","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/154405910608500916","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910608500916","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:03:20Z","timestamp":1777496600000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/154405910608500916"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9]]},"references-count":28,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2006,9]]}},"alternative-id":["10.1177\/154405910608500916"],"URL":"https:\/\/doi.org\/10.1177\/154405910608500916","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9]]}}}