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学科主题口腔医学
PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review
Guo, Yan-Yan1; Zhang, Jian-Yun1; Li, Xue-Fen2; Luo, Hai-Yan1; Chen, Feng2; Li, Tie-Jun1
刊名PLOS ONE
2013-10-21
DOI10.1371/journal.pone.0077305
8期:10
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Multidisciplinary Sciences
资助者National Natural Science Foundation of China ; Ministry of Education of China ; National Natural Science Foundation of China ; Ministry of Education of China
研究领域[WOS]Science & Technology - Other Topics
关键词[WOS]BASAL-CELL CARCINOMA ; STEROL-SENSING DOMAIN ; GORLIN-SYNDROME ; SONIC HEDGEHOG ; NEVUS SYNDROME ; HUMAN HOMOLOG ; VESICULAR TRAFFICKING ; PATCHED PROTEIN ; SUPPRESSOR GENE ; RECEPTOR
英文摘要

Background: The keratocystic odontogenic tumor (KCOT) is a locally aggressive cystic jaw lesion that occurs sporadically or in association with nevoid basal cell carcinoma syndrome (NBCCS). PTCH1, the gene responsible for NBCCS, may play an important role in sporadic KCOTs. In this study, we analyzed and compared the distribution pattern of PTCH1 mutations in patients with sporadic and NBCCS-associated KCOTs.

Methods: We detected PTCH1 mutations in 14 patients with NBCCS-associated KCOTs and 29 patients with sporadic KCOTs by direct sequencing. In addition, five electronic databases were searched for studies detecting PTCH1 mutations in individuals with NBCCS-associated or sporadic KCOTs, published between January 1996 and June 2013 in English language.

Results: We identified 15 mutations in 11 cases with NBCCS-associated KCOTs and 19 mutations in 13 cases with sporadic KCOTs. In addition, a total of 204 PTCH1 mutations (187 mutations from 210 cases with NBCCS-associated and 17 mutations from 57 cases with sporadic KCOTs) were compiled from 78 published papers.

Conclusions: Our study indicates that mutations in transmembrane 2 (TM2) are closely related to the development of sporadic KCOTs. Moreover, for the early diagnosis of NBCCS, a genetic analysis of the PTCH1 gene should be included in the new diagnostic criteria.

语种英语
所属项目编号81030018 ; 30872900 ; 30901680 ; 20120001110043
资助者National Natural Science Foundation of China ; Ministry of Education of China ; National Natural Science Foundation of China ; Ministry of Education of China
WOS记录号WOS:000326032600028
引用统计
被引频次:20[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/400002259/55766
专题北京大学口腔医学院_口腔病理科
作者单位1.Peking Univ, Dept Oral Pathol, Sch & Hosp Stomatol, Beijing 100871, Peoples R China
2.Peking Univ, Cent Lab, Sch & Hosp Stomatol, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Guo, Yan-Yan,Zhang, Jian-Yun,Li, Xue-Fen,et al. PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review[J]. PLOS ONE,2013,8(10).
APA Guo, Yan-Yan,Zhang, Jian-Yun,Li, Xue-Fen,Luo, Hai-Yan,Chen, Feng,&Li, Tie-Jun.(2013).PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review.PLOS ONE,8(10).
MLA Guo, Yan-Yan,et al."PTCH1 Gene Mutations in Keratocystic Odontogenic Tumors: A Study of 43 Chinese Patients and a Systematic Review".PLOS ONE 8.10(2013).
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