完整後設資料紀錄
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Huang, Kang-Chieh | en_US |
dc.contributor.author | Wang, Mong-Lien | en_US |
dc.contributor.author | Chen, Shih-Jen | en_US |
dc.contributor.author | Kuo, Jean-Cheng | en_US |
dc.contributor.author | Wang, Won-Jing | en_US |
dc.contributor.author | Phan Nguyen Nhi Nguyen | en_US |
dc.contributor.author | Wahlin, Karl J. | en_US |
dc.contributor.author | Lu, Jyh-Feng | en_US |
dc.contributor.author | Tran, Audrey A. | en_US |
dc.contributor.author | Shi, Michael | en_US |
dc.contributor.author | Chien, Yueh | en_US |
dc.contributor.author | Yarmishyn, Aliaksandr A. | en_US |
dc.contributor.author | Tsai, Ping-Hsing | en_US |
dc.contributor.author | Yang, Tien-Chun | en_US |
dc.contributor.author | Jane, Wann-Neng | en_US |
dc.contributor.author | Chang, Chia-Ching | en_US |
dc.contributor.author | Peng, Chi-Hsien | en_US |
dc.contributor.author | Schlaeger, Thorsten M. | en_US |
dc.contributor.author | Chiou, Shih-Hwa | en_US |
dc.date.accessioned | 2019-12-13T01:12:17Z | - |
dc.date.available | 2019-12-13T01:12:17Z | - |
dc.date.issued | 2019-11-12 | en_US |
dc.identifier.issn | 2213-6711 | en_US |
dc.identifier.uri | http://dx.doi.org/10.1016/j.stemcr.2019.09.010 | en_US |
dc.identifier.uri | http://hdl.handle.net/11536/153151 | - |
dc.description.abstract | X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid in vitro differentiation system. This model recapitulates key features of XLRS including retinal splitting, defective retinoschisin production, outer-segment defects, abnormal paxillin turnover, and impaired ER-Golgi transportation. RS1 mutation also affects the development of photoreceptor sensory cilia and results in altered expression of other retinopathy-associated genes. CRISPR/Cas9 correction of the disease-associated C625T mutation normalizes the splitting phenotype, outer-segment defects, paxillin dynamics, ciliary marker expression, and transcriptome profiles. Likewise, mutating RS1 in control hiPSCs produces the disease-associated phenotypes. Finally, we show that the C625T mutation can be repaired precisely and efficiently using a base-editing approach. Taken together, our data establish 3D organoids as a valid disease model. | en_US |
dc.language.iso | en_US | en_US |
dc.title | Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis | en_US |
dc.type | Article | en_US |
dc.identifier.doi | 10.1016/j.stemcr.2019.09.010 | en_US |
dc.identifier.journal | STEM CELL REPORTS | en_US |
dc.citation.volume | 13 | en_US |
dc.citation.issue | 5 | en_US |
dc.citation.spage | 906 | en_US |
dc.citation.epage | 923 | en_US |
dc.contributor.department | 生物科技學系 | zh_TW |
dc.contributor.department | Department of Biological Science and Technology | en_US |
dc.identifier.wosnumber | WOS:000496804400011 | en_US |
dc.citation.woscount | 0 | en_US |
顯示於類別: | 期刊論文 |