The study of molecular genetics for oral genetic disorder and clinical application about human enamel matrix

人牙釉质基质口腔遗传病分子遗传学研究及临床应用

• 批准号: 20890009
• 负责人: KIDA Miyuki
• 金额: $ 2.11万
• 依托单位: Hokkaido University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (Start-up)
• 财政年份: 2008
• 资助国家: 日本
• 起止时间: 2008 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-20890009/
• 关键词: 口腔遺伝性疾患; 遺伝性エナメル質形成不全症; 遺伝性象牙質形成不全症; 遺伝子解析; ヒトエナメルマトリックス蛋白; 遺伝性多数歯欠損症; エナメル基質タンパク

I tried to detect responsible genes about oral hereditary diseases, in particular, amelogenesis imperfecta, dentinogenesis imperfecta and oligodontia. I detected de novo mutations of DGI and Oligodontia. These mutations were reported as first cases in Japan. And I tried to apply synthesized human amelogenin protein for new clinical technology.

我试图检测与口腔遗传性疾病相关的基因，特别是牙釉质发育不全、牙本质发育不全和少牙症。我检测到了 DGI 和 Oligodontia 的从头突变。这些突变被报道为日本的首例病例。我尝试将合成的人釉原蛋白应用于新的临床技术。

项目成果

The first confirmed case with C3 deficiency caused by compound hetero zygous mutations in the C3 gene ; a new aspect of pathogenesis for C3 deficiency

首例因C3基因复合杂合突变导致C3缺乏症确诊病例；

• 发表时间: 2008
• 作者: Miuki Kida; et.al.
• 通讯作者: et.al.

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

日本家庭中与 II 型牙本质发育不全相关的 DSPP 基因从头突变

• 发表时间: 2009
• 作者: Miuki Kida; et al
• 通讯作者: et al

De novo mutation in the DSPP gene associated with dentinogenesis imperfecta type II in a Japanese family

日本家庭中与 II 型牙本质发育不全相关的 DSPP 基因从头突变

• 发表时间: 2009
• 作者: Miyuki Kida; Tomonori Tsutsumi; Masanobu Shindoh; H Ikeda; Tadashi Ariga
• 通讯作者: Tadashi Ariga

The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency

首例因C3基因复合杂合突变导致C3缺乏症确诊病例；

• 发表时间: 2008
• 作者: Miyuki Kida; Hirotaka Fujioka; Yoshiyuki Kosaka; Kouhei Hayashi; Yukio Sakiyama; Tadashi Ariga.
• 通讯作者: Tadashi Ariga.