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学科主题: 口腔医学
题名:
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia
作者: Liu, Haochen1; Ding, Tingting1; Zhan, Yuan2; Feng, Hailan1
刊名: PLOS ONE
发表日期: 2015-09-25
DOI: 10.1371/journal.pone.0138221
卷: 10, 期:9
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Multidisciplinary Sciences
研究领域[WOS]: Science & Technology - Other Topics
关键词[WOS]: SELECTIVE TOOTH AGENESIS ; ECTODERMAL DYSPLASIA ; NONSENSE MUTATION ; WNT10A ; MSX1 ; PAX9 ; EDA ; POLYMORPHISMS ; HYPODONTIA ; POPULATION
英文摘要:

Oligodontia is defined as the congenital absence of six or more permanent teeth, excluding the third molars. Oligodontia may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Numerous gene mutations have been association with oligodontia. In the present study, we identified a de novo AXIN2 missense mutation (c.314T>G) in a Chinese individual with non-syndromic oligodontia. This mutation results in the substitution of Val at residue 105 for Gly (p.Val105Gly); residue 105 is located in the highly conserved regulator of G protein signaling (RGS) domain of the AXIN2 protein. This is the first report indicating that a mutation in the RGS domain of AXIN2 is responsible for non-syndromic oligodontia. Our study supports the relationship between AXIN2 mutation and non-syndromic oligodontia and extends the mutation spectrum of the AXIN2 gene.

语种: 英语
所属项目编号: 81100725
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000361800700038
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59338
Appears in Collections:北京大学口腔医学院_口腔修复科_期刊论文

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作者单位: 1.Peking Univ, Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100871, Peoples R China
2.Peking Univ, Sch & Hosp Stomatol, Dent Ctr 3, Beijing 100871, Peoples R China

Recommended Citation:
Liu, Haochen,Ding, Tingting,Zhan, Yuan,et al. A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia[J]. PLOS ONE,2015,10(9).
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