首页> Human genetics> Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

导出 LinkOut

翻译打印收藏纠错

第一作者： Ping,Xu

第一单位： State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, 510060, China.

作者： Ping,Xu ^[1] ; Zhuolin,Chen ^[2] ; Jianchi,Ma ^[3] ; Yongli,Shan ^[4] ; Yuan,Wang ^[1] ; Bingbing,Xie ^[1] ; Dandan,Zheng ^[1] ; Fuying,Guo ^[1] ; Xiaojing,Song ^[1] ; Guanjie,Gao ^[1] ; Ke,Ye ^[1] ; Yizhi,Liu ^[1] ; Guangjin,Pan ^[4] ; Bin,Jiang ^[3] ; Fuhua,Peng ^[5] ; Xiufeng,Zhong ^[6]

作者单位： State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, 510060, China. ^[1] Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510630, China. ^[2] Guangdong Province Key Laboratory of Brain Function and Disease, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China. ^[3] CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China, Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, 510530, China. ^[4] Department of Neurology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510630, China. pfh93@163.com. ^[5] State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou, 510060, China. zhongxf7@mail.sysu.edu.cn. ^[6]

关键词 CLCN2 Inherited retinal dystrophy Patient hiPSCs Retinal organoid Retinal pigment epithelium cells