JAG1基因突变导致家族性渗出性玻璃体视网膜病变的分子机制研究

81700876
2017
H1305.视网膜、脉络膜及玻璃体相关疾病
张琳
青年科学基金项目
副教授
电子科技大学
20万元
信号通路;分子机制;JAG1;家族性渗出性玻璃体视网膜病变
2018-01-01到2020-12-31
  • 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 Whole-Exome Sequencing Analysis Identified Novel Mutations in the TSPAN12 Gene in Chinese Families with Familial Exudative Vitreoretinopathy 期刊论文 Yuan Ye;Xu Huijuan;Zhang Shanshan;Zhang Xiang;Zhang Lin;Yang Zhenglin
2 Mutations in JAG1 Gene May Lead to Familial Exudative Vitreoretinopathy 会议论文 Zhang Lin;Zhang Shanshan;Zhu Xianjun;Yang Zhenglin
3 Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa 期刊论文 Zhang Lin;Sun Zixi;Zhao Peiquan;Huang Lulin;Xu Mingchu;Yang Yeming;Chen Xue;Lu Fang;Zhang Xiang;Wang Hui;Zhang Shanshan;Liu Wenjing;Jiang Zhilin;Ma Shi;Chen Rui;Zhao Chen;Yang Zhenglin;Sui Ruifang;Zhu Xianjun
4 Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy 期刊论文 Zhang L;Zhang X;Xu H;Huang L;Zhang S;Liu W;Yang Y;Fei P;Li S;Yang M;Zhao P;Zhu X;Yang Z.
5 ER complex proteins are required for rhodopsin biosynthesis and photoreceptor survival in Drosophila and mice 期刊论文 Xiong L;Zhang L;Yang Y;Li N;Lai W;Wang F;Zhu X;Wang T.
6 Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families 期刊论文 Xu H;Zhang S;Huang L;Zhao P;Zhang X;Yang Z;Zhang L.
7 Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family 期刊论文 Zhang Shanshan;Li Jie;Li Shujin;Yang Yeming;Yang Mu;Yang Zhenglin;Zhu Xianjun;Zhang Lin
8 Tmem30a plays critical roles in retina vascular development 会议论文 Zhang Shanshan;Zhang Lin;Zhu Xianjun
9 TMEM30A deficiency n endothelial cells impairs cell proliferation and angiogenesis 期刊论文 Zhang Shanshan;Liu Wenjing;Yang Yeming;Sun Kuanxiang;Li Shujin;Xu Huijuan;Yang Mu;Zhang Lin;Zhu Xianjun
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