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2. Slc4a7 Regulates Retina Development in Zebrafish.

Author

Zhuang, Youyuan, Li, Dandan, Tang, Cheng, Zhao, Xinyi, Wang, Ruting, Tao, Di, Huang, Xiufeng, and Liu, Xinting

Subjects
*RETINAL degeneration, *VISION disorders, *GENETIC disorders, *GENOME editing, *RNA sequencing
Abstract

Inherited retinal degenerations (IRDs) are a group of genetic disorders characterized by the progressive degeneration of retinal cells, leading to irreversible vision loss. SLC4A7 has emerged as a candidate gene associated with IRDs, yet its mechanisms remain largely unknown. This study aims to investigate the role of slc4a7 in retinal development and its associated molecular pathogenesis in zebrafish. Morpholino oligonucleotide knockdown, CRISPR/Cas9 genome editing, quantitative RT-PCR, eye morphometric measurements, immunofluorescent staining, TUNEL assays, visual motor responses, optokinetic responses, rescue experiments, and bulk RNA sequencing were used to assess the impact of slc4a7 deficiency on retinal development. Our results demonstrated that the knockdown of slc4a7 resulted in a dose-dependent reduction in eye axial length, ocular area, and eye-to-body-length ratio. The fluorescence observations showed a significant decrease in immunofluorescence signals from photoreceptors and in mCherry fluorescence from RPE in slc4a7-silenced morphants. TUNEL staining uncovered the extensive apoptosis of retinal cells induced by slc4a7 knockdown. Visual behaviors were significantly impaired in the slc4a7-deficient larvae. GO and KEGG pathway analyses reveal that differentially expressed genes are predominantly linked to aspects of vision, ion channels, and phototransduction. This study demonstrates that the loss of slc4a7 in larvae led to profound visual impairments, providing additional insights into the genetic mechanisms predisposing individuals to IRDs caused by SLC4A7 deficiency. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project

Author

Chen, Chong, primary, An, Gang, additional, Yu, Xiaoguang, additional, Wang, Siyu, additional, Lin, Peng, additional, Yuan, Jian, additional, Zhuang, Youyuan, additional, Lu, Xiaoyan, additional, Bai, Yu, additional, Zhang, Guosi, additional, Su, Jianzhong, additional, Qu, Jia, additional, Xu, Liangde, additional, and Wang, Hong, additional

Published
2024
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8. Simulations to Assess the Performance of Multifactor Risk Scores for Predicting Myopia Prevalence in Children and Adolescents in China

Author

Wang, Hong, primary, Li, Liansheng, additional, Wang, Wencan, additional, Wang, Hao, additional, Zhuang, Youyuan, additional, Lu, Xiaoyan, additional, Zhang, Guosi, additional, Wang, Siyu, additional, Lin, Peng, additional, Chen, Chong, additional, Bai, Yu, additional, Chen, Qi, additional, Chen, Hao, additional, Qu, Jia, additional, and Xu, Liangde, additional

Published
2022
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9. Additional file 1 of Design, methodology, and baseline of whole city-million scale children and adolescents myopia survey (CAMS) in Wenzhou, China

Author

Xu, Liangde, Zhuang, Youyuan, Zhang, Guosi, Ma, Yunlong, Yuan, Jian, Tu, Changseng, Li, MiaoMiao, Wang, Wencan, Zhang, Yaru, Lu, Xiaoyan, Li, Jing, Liu, Xinting, Xue, Zhengbo, Zhou, Meng, Sun, Jie, Bao, Jinhua, Li, Ming, Lu, Fan, Wang, Hong, Su, Jianzhong, and Qu, Jia

Abstract

Additional file 1. Supplementary Materials.

Published
2021
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10. Contribution of structural accessibility to the cooperative relationship of TF-lncRNA in myopia

Author

Wang, Hong, primary, Li, Jing, additional, Wang, Siyu, additional, Lu, Xiaoyan, additional, Zhang, Guosi, additional, Zhuang, Youyuan, additional, Li, Liansheng, additional, Wang, Wencan, additional, Lin, Peng, additional, Chen, Chong, additional, Wang, Hao, additional, Chen, Qi, additional, Jiang, Yongshuai, additional, Qu, Jia, additional, and Xu, Liangde, additional

Published
2021
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