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

AAV2 vector optimization for retinal ganglion cell-targeted delivery of therapeutic genes

AAV2 载体优化用于视网膜神经节细胞靶向递送治疗基因

Brahim Chaqour, Thu T Duong, Jipeng Yue, Tehui Liu, David Camacho, Kimberly E Dine, Julian Esteve-Rudd, Scott Ellis, Jean Bennett, Kenneth S Shindler, Ahmara G Ross

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Spata7 是一种视网膜纤毛病基因,对视网膜中 RPGRIP1 的正确定位和蛋白质运输至关重要

Aiden Eblimit, Thanh-Minh T Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M Wu, David S Williams, Graeme Mardon, Ronal

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ADCK4 突变通过干扰 CoQ10 生物合成促进类固醇耐药性肾病综合征

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C Cattran, Carmen Avila-Casado, Andrew D Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J Allen, 

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

ZMYND10 在原发性纤毛运动障碍中发生突变并与 LRRC6 相互作用

Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, Dalal A Al-Mutairi, Margaret W Leigh, Toby W Hurd, Rim Hjeij, Sharon D Dell, Moumita Chaki, Gerard W Dougherty, Mohamed Adan, Philip C Spear, Julian Esteve-Rudd, Niki T Loges, Margaret Rosenfeld, Katrina A Diaz, Heike Olbrich, Whitney E Wolf,