日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

神经病变靶酯酶活性决定了PNPLA6疾病的表型

Liu, James; He, Yi; Lwin, Cara; Han, Marina; Guan, Bin; Naik, Amelia; Bender, Chelsea; Moore, Nia; Huryn, Laryssa A; Sergeev, Yuri V; Qian, Haohua; Zeng, Yong; Dong, Lijin; Liu, Pinghu; Lei, Jingqi; Haugen, Carl J; Prasov, Lev; Shi, Ruifang; Dollfus, Hélène; Aristodemou, Petros; Laich, Yannik; Németh, Andrea H; Taylor, John; Downes, Susan; Krawczynski, Maciej R; Meunier, Isabelle; Strassberg, Melissa; Tenney, Jessica; Gao, Josephine; Shear, Matthew A; Moore, Anthony T; Duncan, Jacque L; Menendez, Beatriz; Hull, Sarah; Vincent, Andrea L; Siskind, Carly E; Traboulsi, Elias I; Blackstone, Craig; Sisk, Robert A; Miraldi Utz, Virginia; Webster, Andrew R; Michaelides, Michel; Arno, Gavin; Synofzik, Matthis; Hufnagel, Robert B

Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.

利用 CRISPR/Cas9 基因编辑技术在体内恢复 RPGR 表达

Gumerson Jessica D, Alsufyani Amal, Yu Wenhan, Lei Jingqi, Sun Xun, Dong Lijin, Wu Zhijian, Li Tiansen

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.

针对 NRL 和 CRX 调控的替代启动子进行靶向删除,可特异性地沉默视杆光感受器中的 FERM 和 PDZ 结构域包含 1 (Frmpd1)

Campla Christie K, Mast Hannah, Dong Lijin, Lei Jingqi, Halford Stephanie, Sekaran Sumathi, Swaroop Anand