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

Corrigendum to A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

更正：CLN6-CLN8复合物在内质网募集溶酶体酶以进行高尔基体转移

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI202081
Bajaj, Lakshya; Sharma, Jaiprakash; di Ronza, Alberto; Zhang, Pengcheng; Eblimit, Aiden; Pal, Rituraj; Roman, Dany; Collette, John R; Booth, Clarissa; Chang, Kevin T; Sifers, Richard N; Jung, Sung Y; Weimer, Jill M; Chen, Rui; Schekman, Randy W; Sardiello, Marco
发表日期：2025
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A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

CLN6-CLN8复合物在内质网募集溶酶体酶，以便转移至高尔基体。

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI130955
Bajaj, Lakshya; Sharma, Jaiprakash; di Ronza, Alberto; Zhang, Pengcheng; Eblimit, Aiden; Pal, Rituraj; Roman, Dany; Collette, John R; Booth, Clarissa; Chang, Kevin T; Sifers, Richard N; Jung, Sung Y; Weimer, Jill M; Chen, Rui; Schekman, Randy W; Sardiello, Marco
发表日期：2020
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Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.

基因疗法挽救了受体表达增强蛋白 6 突变小鼠的视网膜变性

期刊:Human Gene Therapy
影响因子:4
doi:10.1089/hum.2018.078
Zaneveld Smriti Agrawal, Eblimit Aiden, Liang Qingnan, Bertrand Renae, Wu Nathaniel, Liu Hehe, Nguyen Quynh, Zaneveld Jacques, Wang Keqing, Li Yumei, Chen Rui
免疫/内分泌
发表日期：2019
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype

NMNAT1 E257K 变异与莱伯先天性黑蒙症 (LCA9) 相关，导致轻度视网膜变性表型

期刊:Experimental Eye Research
影响因子:2.7
doi:10.1016/j.exer.2018.04.010
Eblimit, Aiden; Zaneveld, Smriti Agrawal; Liu, Wei; Thomas, Kandace; Wang, Keqing; Li, Yumei; Mardon, Graeme; Chen, Rui
CA9
发表日期：2018
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Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

在候选的莱伯氏先天性黑蒙基因 CLUAP1 中发现了功能减弱突变

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/gim.2015.205
Soens, Zachry T; Li, Yuanyuan; Zhao, Li; Eblimit, Aiden; Dharmat, Rachayata; Li, Yumei; Chen, Yiyun; Naqeeb, Mohammed; Fajardo, Norma; Lopez, Irma; Sun, Zhaoxia; Koenekoop, Robert K; Chen, Rui
CLU
发表日期：2016
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Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes

整合亚细胞蛋白质组学分析能够准确预测人类致病基因

期刊:Genome Research
影响因子:5.5
doi:10.1101/gr.198911.115
Zhao, Li; Chen, Yiyun; Bajaj, Amol Onkar; Eblimit, Aiden; Xu, Mingchu; Soens, Zachry T; Wang, Feng; Ge, Zhongqi; Jung, Sung Yun; He, Feng; Li, Yumei; Wensel, Theodore G; Qin, Jun; Chen, Rui
细胞生物学
发表日期：2016
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Conditional knockout of retinal determination genes in differentiating cells in Drosophila.

果蝇分化细胞中视网膜决定基因的条件性敲除

期刊:FEBS Journal
影响因子:4.2
doi:10.1111/febs.13772
Jin Meng, Eblimit Aiden, Pulikkathara Merlyn, Corr Stuart, Chen Rui, Mardon Graeme
细胞生物学
发表日期：2016
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Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity

对12例维吾尔族遗传性视网膜疾病先证者进行基于新一代测序的分子诊断

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/srep21384
Tajiguli, Abulikemu; Xu, Mingchu; Fu, Qing; Yiming, Rouzimaimaiti; Wang, Keqing; Li, Yumei; Eblimit, Aiden; Sui, Ruifang; Chen, Rui; Aisa, Haji Akber
发表日期：2016
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ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa

ADIPOR1基因突变与综合征型视网膜色素变性有关

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22940
Xu, Mingchu; Eblimit, Aiden; Wang, Jing; Li, Jianli; Wang, Feng; Zhao, Li; Wang, Xia; Xiao, Ningna; Li, Yumei; Wong, Lee-Jun C; Lewis, Richard A; Chen, Rui
发表日期：2016
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Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

POMGNT1基因突变会导致非综合征型视网膜色素变性。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddw022
Xu, Mingchu; Yamada, Takeyuki; Sun, Zixi; Eblimit, Aiden; Lopez, Irma; Wang, Feng; Manya, Hiroshi; Xu, Shan; Zhao, Li; Li, Yumei; Kimchi, Adva; Sharon, Dror; Sui, Ruifang; Endo, Tamao; Koenekoop, Robert K; Chen, Rui
MGN
发表日期：2016
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