Copy number variations in hearing loss

听力损失的拷贝数变化

• 批准号: 15K10747
• 负责人: MOTEKI Hideaki
• 金额: $ 3.08万
• 依托单位: Shinshu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2015
• 资助国家: 日本
• 起止时间: 2015-04-01 至 2018-03-31
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-15K10747/
• 关键词: 難聴; 遺伝子; 次世代シークエンサー; アレイCGH; CNV; 遺伝子コピー数変化; aCGH; コピー数多型; 先天性難聴; 耳科学; ゲノム

项目成果

Copy Number Variants in the STRC Gene are a Common Cause of Genetic Hearing Loss in the Japanese Population.

STRC 基因的拷贝数变异是日本人群遗传性听力损失的常见原因。

• 发表时间: 2016
• 作者: Moteki H;Shearer A;Azaiez H;Booth K;Sloan C;Kolbe D;Nishio S;Smith R;Usami S.
• 通讯作者: Usami S.

Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

• DOI: 10.1111/cge.12677
• 发表时间: 2016-04
• 期刊: Clinical genetics
• 影响因子: 3.5
• 作者: Moteki H;Azaiez H;Booth KT;Shearer AE;Sloan CM;Kolbe DL;Nishio S;Hattori M;Usami S;Smith RJH
• 通讯作者: Smith RJH

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

• DOI: 10.1177/0003489416661345
• 发表时间: 2016-11
• 期刊: The Annals of otology, rhinology, and laryngology
• 作者: Moteki H;Azaiez H;Sloan-Heggen CM;Booth K;Nishio SY;Wakui K;Yamaguchi T;Kolbe DL;Iwasa YI;Shearer AE;Fukushima Y;Smith RJ;Usami SI
• 通讯作者: Usami SI

Copy Number Variants in the STRC Gene are a Common Cause of Moderate Hearing Loss in a Japanese Population

STRC 基因的拷贝数变异是日本人群中度听力损失的常见原因

• 发表时间: 2018
• 作者: Hideaki Moteki;Yoh Yokota;Shin-ya Nishio;Yomomi Yamaguchi;Keiko Wakui;Shin-ichi Usami
• 通讯作者: Shin-ichi Usami

遺伝子コピー数変化（Copy Number Variation）による先天性感音難聴症例

因基因拷贝数变异导致先天性感音神经性听力损失的病例

• 发表时间: 2015
• 作者: 茂木英明;宇佐美真一
• 通讯作者: 宇佐美真一