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

The P23H Rhodopsin Mouse Model Reveals a Novel Interaction Between the Endoplasmic Reticulum and Connecting Cilium Rootlet Within Photoreceptors

P23H视紫红质小鼠模型揭示了光感受器内质网与连接纤毛根丝之间的一种新型相互作用

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.67.3.57
Novoselov, Sergey S; Mendes, Bernardo S; Martello, Andrea; Wavre-Shapton, Silene; Aguila, Monica; Guarascio, Rosellina; Ziaka, Kalliopi; Bevilacqua, Dalila; Metodieva, Gergana; Luthert, Philip J; Yang, Jun; Metodiev, Metodi V; Reeves, Philip J; Futter, Clare E; Cheetham, Michael E; Burgoyne, Thomas
Mouse
发表日期：2026
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Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7

与视网膜营养不良相关的Xq27.1染色体间插入会导致LINC00632和CDR1as/ciRS-7的失调。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.01.007
Gardner, Jessica C; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uirá Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C; Moore, Anthony T; Michaelides, Michel; Cheetham, Michael E; Hardcastle, Alison J
发表日期：2025
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Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant

在一种由视紫红质M39R变体引起的扇形视网膜色素变性小鼠模型中，预防光诱导毒性

期刊:Cell Death Discovery
影响因子:7
doi:10.1038/s41420-025-02769-2
Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Piccolo, Davide; Nieuwenhuis, Sara Eliza; Bakoulina, Adriana; Asfahani, Rowan; Aguilà, Monica; Athanasiou, Dimitra; Sefic Svara, Diana; Li, Yumei; Chen, Rui; Cheetham, Michael E
毒理研究
发表日期：2025
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Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids

利用腺嘌呤碱基编辑器校正患者iPSC和视网膜类器官中与遗传性视网膜营养不良相关的致病变异

期刊:Molecular Therapy-Nucleic Acids
影响因子:6.1
doi:10.1016/j.omtn.2025.102777
Leung, Amy; Perdigão, Pedro R L; Sacristan-Reviriego, Almudena; Sladen, Paul E; Aguzzi, Erika A; Rezek, Farah O; Ziaka, Kalliopi; Guarascio, Rosellina; Hau, Kwan-Leong; Cheetham, Michael E; van der Spuy, Jacqueline
3D/类器官
碱基编辑
发表日期：2025
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Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-025-01943-y
Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E
3D/类器官
发表日期：2025
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Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

更正：小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

期刊:Acta Neuropathologica Communications
影响因子:5.7
doi:10.1186/s40478-025-02010-2
Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E
3D/类器官
发表日期：2025
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CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy

CRISPRa介导的OPA1表达增加在显性视神经萎缩中的作用

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26136364
Becchi, Giada; Whitehead, Michael; Harvey, Joshua P; Sladen, Paul E; Dushti, Mohammed; Chapple, J Paul; Yu-Wai-Man, Patrick; Cheetham, Michael E
OPA1
发表日期：2025
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RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials

RHO相关性视网膜色素变性：遗传学、表型、自然史、功能分析和动物模型——为临床试验做准备

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.66.9.69
Daich Varela, Malena; Romo-Aguas, Juan Carlos; Guarascio, Rosellina; Ziaka, Kalliopi; Aguila, Monica; Hau, Kwan-Leong; Li, Yumei; Chen, Rui; Kalitzeos, Angelos; Robson, Anthony G; Baker, Rebecca A; Mahroo, Omar A; Webster, Andrew R; Chan, Henry; Lubock, Nathan B; Albert, Matthew L; Cheetham, Michael E; Michaelides, Michel
发表日期：2025
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Investigation of ABCA4 Missense Variants and Potential Small Molecule Rescue in Retinal Organoids.

ABCA4错义变异的研究及其在视网膜类器官中潜在的小分子拯救作用

期刊:Investigative Ophthalmology & Visual Science
影响因子:4.7
doi:10.1167/iovs.66.9.58
Piccolo Davide, Sladen Paul, Guarascio Rosellina, Ziaka Kalliopi, Cheetham Michael E
3D/类器官
ABCA4
发表日期：2025
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Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease

Stargardt病关联研究网络成立大会：Stargardt病现状回顾与展望

期刊:Translational Vision Science & Technology
影响因子:2.6
doi:10.1167/tvst.14.9.26
Britten-Jones, Alexis Ceecee; Al-Khuzaei, Saoud; Rizzi, Matteo; Crossland, Michael D; Rozanowska, Malgorzata B; Mendes, Bernardo S; de Guimaraes, Thales A C; Daich Varela, Malena; Sumodhee, Dayyanah; Woof, William A; Khan, Seemi; Girach, Aniz; Downes, Susan M; Cheetham, Michael E; Piccolo, Davide; Ayton, Lauren N; Brandão, Marina Leite; Scholl, Hendrick P N; Skilton, Andi; Tailor, Bhavna; Michaelides, Michel; Pontikos, Nikolas
发表日期：2025
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