IR@PKUHSC  > 北京大学基础医学院  > 医学遗传学系
学科主题基础医学
EDA Gene Mutations Underlie Non-syndromic Oligodontia
Song, S.1,4; Han, D.2; Qu, H.3; Gong, Y.2; Wu, H.2; Zhang, X.2; Zhong, N.1,4,5; Feng, H.2
关键词EDA gene oligodontia mutation non-syndromic
刊名JOURNAL OF DENTAL RESEARCH
2009-02-01
DOI10.1177/0022034508328627
88期:2页:126-131
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]HYPOHIDROTIC ECTODERMAL DYSPLASIA ; TOOTH AGENESIS ; MISSENSE MUTATION ; ECTODYSPLASIN-A ; HYPODONTIA ; ANOMALIES ; HOMEODOMAIN ; PROTEIN ; ABSENCE ; FAMILY
英文摘要

Recent studies have detected mutations in the EDA gene, previously identified as causing X-linked hypohidrotic ectodermal dysplasia (XLHED), in two families with X-linked non-syndromic hypodontia. Notably, all affected males in both families exhibited isolated oligodontia, while almost all female carriers showed a milder or normal phenotype. We hypothesized that the EDA gene could be responsible for sporadic non-syndromic oligodontia in affected males. In this study, we examined 15 unrelated males with non-syndromic oligodontia. Three novel EDA mutations (p.Ala259Glu, p. Arg289Cys, and p.Arg334His) were identified in four individuals (27%). A genetic defect in the EDA gene could result in non-syndromic oligodontia in affected males.

语种英语
WOS记录号WOS:000263913000004
项目编号985-2-035-39 ; 7063099 ; D43 TW06176
资助机构Chinese Ministry of Health ; Natural Science Foundation of Beijing ; NIH
引用统计
被引频次:44[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50252
专题北京大学基础医学院_医学遗传学系
北京大学药学院_天然药物与仿生药物国家重点实验室
北京大学第一临床医学院_检验科
北京大学第一临床医学院_泌尿外科
作者单位1.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100871, Peoples R China
2.Peking Univ Sch & Hosp Stomatol, Dept Prosthodont, Beijing 100081, Peoples R China
3.Peking Univ, Coll Life Sci, Beijing 100871, Peoples R China
4.Peking Univ, Hlth Sci Ctr, Ctr Med Genet, Beijing 100083, Peoples R China
5.New York State Inst Basic Res Dev Disabil, Staten Isl, NY 10314 USA
推荐引用方式
GB/T 7714
Song, S.,Han, D.,Qu, H.,et al. EDA Gene Mutations Underlie Non-syndromic Oligodontia[J]. JOURNAL OF DENTAL RESEARCH,2009,88(2):126-131.
APA Song, S..,Han, D..,Qu, H..,Gong, Y..,Wu, H..,...&Feng, H..(2009).EDA Gene Mutations Underlie Non-syndromic Oligodontia.JOURNAL OF DENTAL RESEARCH,88(2),126-131.
MLA Song, S.,et al."EDA Gene Mutations Underlie Non-syndromic Oligodontia".JOURNAL OF DENTAL RESEARCH 88.2(2009):126-131.
条目包含的文件 下载所有文件
文件名称/大小 文献类型 版本类型 开放类型 使用许可
EDA Gene Mutations U(240KB)期刊论文出版稿开放获取CC BY-NC-SA浏览 下载
个性服务
推荐该条目
保存到收藏夹
查看访问统计
导出为Endnote文件
谷歌学术
谷歌学术中相似的文章
[Song, S.]的文章
[Han, D.]的文章
[Qu, H.]的文章
百度学术
百度学术中相似的文章
[Song, S.]的文章
[Han, D.]的文章
[Qu, H.]的文章
必应学术
必应学术中相似的文章
[Song, S.]的文章
[Han, D.]的文章
[Qu, H.]的文章
相关权益政策
暂无数据
收藏/分享
文件名: EDA Gene Mutations Underlie Non-syndromic Oligodontia.pdf
格式: Adobe PDF
所有评论 (0)
暂无评论
 

除非特别说明,本系统中所有内容都受版权保护,并保留所有权利。