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A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia
Liu, Haochen1; Ding, Tingting1; Zhan, Yuan2; Feng, Hailan1
刊名PLOS ONE
2015-09-25
DOI10.1371/journal.pone.0138221
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
WOS记录号WOS:000361800700038
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/400002259/59338
专题北京大学口腔医学院_口腔修复科
北京大学口腔医学院_第三门诊部
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
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GB/T 7714
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).
APA Liu, Haochen,Ding, Tingting,Zhan, Yuan,&Feng, Hailan.(2015).A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.PLOS ONE,10(9).
MLA Liu, Haochen,et al."A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia".PLOS ONE 10.9(2015).
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