遗传性耳聋基因TBC1D24的内耳功能及致聋机制研究

81570930
2015
H1405.耳鼻咽喉头颈发育相关疾病
杨涛
面上项目
研究员
上海交通大学
57万元
常染色体显性遗传;发病机制;基因敲除及敲入;功能;致病基因
2016-01-01到2019-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause forAutosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans 期刊论文 Longixa He;Xiuhong Pang;Penghui Chen;Hao Wu;Tao Yang
2 Whole-exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients 期刊论文 Zou S;Mei X;Yang W;Zhu R;Yang T;Hu H
3 NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness 期刊论文 Chen Penghui;He Longxia;Pang Xiuhong;Wang Xiaowen;Yang Tao;Wu Hao
4 Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome 期刊论文 Sun Lianhua;Li Xiaohua;Shi Jun;Pang Xiuhong;Hu Yechen;Wang Xiaowen;Wu Hao;Yang Tao
5 Adominant variant in DMXL2 is linked to nonsyndromic hearing lossAdominant variant in DMXL2 is linked to nonsyndromic hearing loss 期刊论文 Chen DY;Liu XF;Zhang D;Chai YC;Yu DH;Sun CL;Wang XL;Zhu WD;Chen Y;Sun LH;Wang XW;Shi FX;Huang ZW;Yang T;Wu H
6 Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism 期刊论文 Zhou Xiao Long;He Long Xia;Yu Li Jia;Wang Yong;Wang Xi Jin;Wang En Duo;Yang Tao
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