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学科主题口腔医学
Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors
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
2009-03-01
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
WOS记录号WOS:000279281300007
项目编号30625044 ; 30572048 ; 30872900 ; 20050001110
资助机构National Nature Science Foundation of China ; Specialized Research Fund for the Doctoral Program of Higher Education
引用统计
被引频次:5[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/52682
专题北京大学口腔医学院_口腔病理科
作者单位Peking Univ, Dept Oral Pathol, Sch & Hosp Stomatol, Beijing 100081, Peoples R China
推荐引用方式
GB/T 7714
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.
APA Pan, Shuang,Xu, Li-li,Sun, Li-sha,&Li, Tie-jun.(2009).Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors.INTERNATIONAL JOURNAL OF ORAL SCIENCE,1(1),34-38.
MLA Pan, Shuang,et al."Identification of Known and Novel PTCH Mutations in Both Syndromic and Non-syndromic Keratocystic Odontogenic Tumors".INTERNATIONAL JOURNAL OF ORAL SCIENCE 1.1(2009):34-38.
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