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Loss of function of CMPK2 causes mitochondria deficiency and brain calcification.
Zhao M, Su HZ, Zeng YH, Sun Y, Guo XX, Li YL, Wang C, Zhao ZY, Huang XJ, Lin KJ, Ye ZL, Lin BW, Hong S, Zheng J, Liu YB, Yao XP, Yang D, Lu YQ, Chen HZ, Zuo E, Yang G, Wang HT, Huang CW, Lin XH, Cen Z, Lai LL, Zhang YK, Li X, Lai T, Lin J, Zuo DD, Lin MT, Liou CW, Kong QX, Yan CZ, Xiong ZQ, Wang N, Luo W, Zhao CP, Cheng X, Chen WJ. Zhao M, et al. Among authors: lai t, lai ll. Cell Discov. 2022 Nov 29;8(1):128. doi: 10.1038/s41421-022-00475-2. Cell Discov. 2022. PMID: 36443312 Free PMC article.
Base editing-mediated splicing correction therapy for spinal muscular atrophy.
Lin X, Chen H, Lu YQ, Hong S, Hu X, Gao Y, Lai LL, Li JJ, Wang Z, Ying W, Ma L, Wang N, Zuo E, Yang H, Chen WJ. Lin X, et al. Among authors: lai ll. Cell Res. 2020 Jun;30(6):548-550. doi: 10.1038/s41422-020-0304-y. Epub 2020 Mar 24. Cell Res. 2020. PMID: 32210360 Free PMC article. No abstract available.
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification.
Guo XX, Zou XH, Wang C, Yao XP, Su HZ, Lai LL, Chen HT, Lai JH, Liu YB, Chen DP, Deng YC, Lin P, Lin HS, Hong BC, Yao QY, Chen XJ, Huang DQ, Fu HX, Peng JD, Niu YF, Zhao YY, Zhu XQ, Lu XP, Lin HL, Li YK, Liu CY, Huang GB, Wang N, Chen WJ. Guo XX, et al. Among authors: lai jh, lai ll. Hum Mutat. 2019 Apr;40(4):392-403. doi: 10.1002/humu.23703. Epub 2019 Jan 15. Hum Mutat. 2019. PMID: 30609140
Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.
Li JJ, Lin X, Tang C, Lu YQ, Hu X, Zuo E, Li H, Ying W, Sun Y, Lai LL, Chen HZ, Guo XX, Zhang QJ, Wu S, Zhou C, Shen X, Wang Q, Lin MT, Ma LX, Wang N, Krainer AR, Shi L, Yang H, Chen WJ. Li JJ, et al. Among authors: lai ll. Natl Sci Rev. 2019 Sep 3;7(1):92-101. doi: 10.1093/nsr/nwz131. eCollection 2020 Jan. Natl Sci Rev. 2019. PMID: 34691481 Free PMC article.
136 results