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IR@PKUHSC  > 北京大学口腔医学院  > 口腔病理科  > 期刊论文
学科主题: 口腔医学
题名:
Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors
作者: Pan, Shuang; Xu, Li-li; Sun, Li-sha; Li, Tie-jun
关键词: keratocystic odontogenic tumor ; mutation ; nevoid basal cell carcinoma syndrome ; PTCH
刊名: INTERNATIONAL JOURNAL OF ORAL SCIENCE
发表日期: 2009-03-01
卷: 1, 期:1, 页:34-38
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Dentistry, Oral Surgery & Medicine
研究领域[WOS]: Dentistry, Oral Surgery & Medicine
关键词[WOS]: BASAL-CELL CARCINOMA ; GORLIN-SYNDROME
英文摘要:

Aim To clarify the role of PTCH in patients with NBCCS-related and non-sydromic keratocystic odontogenic tumors.

Methodology Mutation analysis was undertaken in 8 sporadic and 4 NBCCS-associated KCOTs.

Results Four novel and two known mutations were identifled in 2 sporadic and 3 syndromic cases, two of which being germline mutations (c.2179delT, c.2824delC) and 4 somatic mutations (c.3162dupG, c.1362-1374dup, c.1012 C>T, c.403C>T).

Conclusion Our findings suggest that defects of PTCH are associated with the pathogenesis of syndromic as well as a subset of non-syndromic KCOTs.

语种: 英语
所属项目编号: 30625044 ; 30572048 ; 30872900 ; 20050001110
项目资助者: National Nature Science Foundation of China ; Specialized Research Fund for the Doctoral Program of Higher Education
WOS记录号: WOS:000279281300007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/52682
Appears in Collections:北京大学口腔医学院_口腔病理科_期刊论文

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作者单位: Peking Univ, Dept Oral Pathol, Sch & Hosp Stomatol, Beijing 100081, Peoples R China

Recommended Citation:
Pan, Shuang,Xu, Li-li,Sun, Li-sha,et al. Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors[J]. INTERNATIONAL JOURNAL OF ORAL SCIENCE,2009,1(1):34-38.
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