Ocrl-flox 基因敲除小鼠

1. Zheng, Bixia, Chen, Qiuxia, Wang, Chunli, Zhang, Aihua, Huang, SongMing. 2019. Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome. In Molecular genetics & genomic medicine, 7, e876. doi:10.1002/mgg3.876. https://pubmed.ncbi.nlm.nih.gov/31376231/

2. Schurman, Scott J, Scheinman, Steven J. . Inherited cerebrorenal syndromes. In Nature reviews. Nephrology, 5, 529-38. doi:10.1038/nrneph.2009.124. https://pubmed.ncbi.nlm.nih.gov/19701229/

3. Loi, Mario. 2006. Lowe syndrome. In Orphanet journal of rare diseases, 1, 16. doi:. https://pubmed.ncbi.nlm.nih.gov/16722554/

4. Devuyst, Olivier, Thakker, Rajesh V. 2010. Dent's disease. In Orphanet journal of rare diseases, 5, 28. doi:10.1186/1750-1172-5-28. https://pubmed.ncbi.nlm.nih.gov/20946626/

5. Chen, Siyu, Lo, Chien-Hui, Liu, Zhiquan, Li, Tingting, Sun, Yang. . Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts. In Human molecular genetics, 33, 1142-1151. doi:10.1093/hmg/ddae045. https://pubmed.ncbi.nlm.nih.gov/38557732/