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

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

BCOR(CRX/OTX2 的共抑制因子)的突变与早发性视网膜变性相关。

Maéva Langouët,Christine Jolicoeur,Awais Javed,Pierre Mattar,Micah D Gearhart,Stephen P Daiger,Mette Bertelsen,Lisbeth Tranebjærg,Nanna D Rendtorff,Karen Grønskov,Catherine Jespersgaard,Rui Chen,Zixi Sun,Hui Li,Najmeh Alirezaie,Jacek Majewski,Vivian J Bardwell,Ruifang Sui,Robert K Koenekoop,Michel Cayouette

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa

诊断为常染色体显性视网膜色素变性的 eyeGENE 先证者的突变流行率

Lori S Sullivan, Sara J Bowne, Melissa J Reeves, Delphine Blain, Kerry Goetz, Vida Ndifor, Sally Vitez, Xinjing Wang, Santa J Tumminia, Stephen P Daiger

Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa

RP1 和 RP1L1 在视杆光感受器轴丝和视网膜色素变性中的重要作用和协同作用

Tetsuji Yamashita, Jiewu Liu, Jiangang Gao, Sean LeNoue, Changguan Wang, Jack Kaminoh, Sara J Bowne, Lori S Sullivan, Stephen P Daiger, Kang Zhang, Malinda E C Fitzgerald, Vladimir J Kefalov, Jian Zuo

IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA

IMP 脱氢酶 1 型与翻译视紫红质 mRNA 的多核糖体相关

Sarah E Mortimer, Dong Xu, Dharia McGrew, Nobuko Hamaguchi, Hoong Chuin Lim, Sara J Bowne, Stephen P Daiger, Lizbeth Hedstrom

Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene

视网膜色素变性-1 (Rp1) 基因靶向破坏的小鼠出现进行性光感受器退化、外节发育不良和视紫红质错误定位

Jiangang Gao, Kyeongmi Cheon, Steven Nusinowitz, Qin Liu, Di Bei, Karen Atkins, Asif Azimi, Stephen P Daiger, Debora B Farber, John R Heckenlively, Eric A Pierce, Lori S Sullivan, Jian Zuo