视网膜色素变性基因CEP250的分子致病机理和基因干预实验研究

31771390
2017
C0604.表型、行为与疾病的遗传学基础
黄秀峰
面上项目
副研究员
温州医科大学
56万元
视网膜色素变性;遗传疾病;CEP250基因;基因敲入小鼠模型;中国人群
2018-01-01到2021-12-31
  • 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 identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome 期刊论文 Cai Xue-Bi;Wu Kun-Chao;Zhang Xiao;Lv Ji-Neng;Jin Guang-Hui;Xiang Lue;Chen Jie;Huang Xiu-Feng;Pan Deng;Lu Bin;Lu Fan;Qu Jia;Jin Zi-Bing
2 Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci 期刊论文 Huang Xiu-Feng;Li Zhixiu;De Guzman Erika;Robinson Philip;Gensler Lianne;Ward Michael M.;Rahbar Mohammad Hossein;Lee MinJae;Weisman Michael H.;Macfarlane Gary J.;Jones Gareth T.;Klingberg Eva;Forsblad-d'Elia Helena;McCluskey Peter;Wakefield Denis;Coombes Jeff S.;Singh Maria A. Fiatarone;Mavros Yorgi;Vlahovich Nicole;Hughes David C.;Marzo-Ortega Helena;Van der Horste-Bruinsma Irene;O'Shea Finbar;Martin Tammy M....
3 Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract 期刊论文 Huang Xiu-Feng;Xiang Lue;Cheng Wan;Cheng Fei-Fei;He Kai-Wen;Zhang Bo-Wen;Zheng Si-Si;Han Ru-Yi;Zheng Yi-Han;Xu Xiao-Tao;Yu Huan-Yun;Zhuang Wenjuan;Leung Yuk Fai;Jin Zi-Bing
4 Correlation of serum amyloid A levels, clinical manifestations, treatment, and disease activity in patients with acute anterior uveitis 期刊论文 Ma-Li Dai;Shipei Fan;Zhuoran Li;Xuewen Yu;Dan Lin;Xiu-Feng Huang;Yuqin Wang
5 Economic Hardship, Ocular Complications, and Poor Self-reported Visual Function are Predictors of Mental Problems in Patients with Uveitis 期刊论文 Jin Yingying;Lin Dan;Dai Ma-Li;Liu Ruru;Jiang Mengxi;Zheng Jingwei;Yang Yi-Mai;Zhu Xue-Fei;Wang Yu-Lin;Huang Xiu-Feng;Wang Yuqin
6 Periodontal Disease Increases the Host Susceptibility to COVID-19 and its Severity: A Mendelian Randomization Study 期刊论文 Yi Wang;Hui Deng;Yihuai Pan;Lijian Jin;Rongdang Hu;Yongyong Lu;Wenhai Deng;Weijian Sun;Chengshui Chen;Xian Shen;Xiu-Feng Huang
7 Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa 期刊论文 Huang Xiu-Feng;Xiang Lue;Fang Xiao-Long;Liu Wei-Qin;Zhuang You-Yuan;Chen Zhen-Ji;Shen Ren-Juan;Cheng Wan;Han Ru-Yi;Zheng Si-Si;Chen Xue-Jiao;Liu Xiaoling;Jin Zi-Bing
8 视网膜色素变性的分子机理及干细胞研究 奖励 金子兵;瞿佳;吕帆;吴金雨;黄秀峰
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