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

Carriage of rare APOB variants predisposes to severe steatotic liver disease and hepatocellular carcinoma

携带罕见APOB变异基因会增加罹患严重脂肪肝和肝细胞癌的风险。

期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI201762
Mureddu, Matteo; Pelusi, Serena; Jamialahmadi, Oveis; Vujkovic, Marijana; Miano, Lorenzo; Eidgah Torghabehei, Hadi; Ronzoni, Luisa; Malvestiti, Francesco; Saracino, Marco; Periti, Giulia; Moretti, Vittoria; Teerlink, Craig C; Lynch, Julie A; Tsao, Philip S; Johnson, Josephine P; La Mura, Vincenzo; Dilena, Robertino; Alqahtani, Saleh A; Cherubini, Alessandro; Russo, Francesco Paolo; D'Ambrosio, Roberta; Fraquelli, Mirella; Petta, Salvatore; Miele, Luca; Vespasiani-Gentilucci, Umberto; Bugianesi, Elisabetta; Mancina, Rosellina M; Parini, Paolo; Prati, Daniele; Chang, Kyong-Mi; Schneider, Carolin V; Romeo, Stefano; Valenti, Luca Vc
肿瘤
肿瘤免疫
代谢
脂肪肝
APOB
细胞生物学
发表日期：2026
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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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Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature

极晚发性克拉伯病伴痴呆：病例描述及文献综述

期刊:Neurological Sciences
影响因子:2.4
doi:10.1007/s10072-026-08836-5
Rossi, Salvatore; Tessa, Alessandra; Vita, Maria Gabriella; Russo, Rosellina; Parisi, Davide; Piemonte, Fiorella; Dalla Zanna, Gianmarco; Santorelli, Filippo Maria; Silvestri, Gabriella
发表日期：2026
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Publisher Correction: Partitioned polygenic risk scores identify distinct types of metabolic dysfunction-associated steatotic liver disease

出版商更正：分区多基因风险评分可识别不同类型的代谢功能障碍相关脂肪肝疾病

期刊:Nature Medicine
影响因子:50
doi:10.1038/s41591-025-03503-2
Jamialahmadi, Oveis; De Vincentis, Antonio; Tavaglione, Federica; Malvestiti, Francesco; Li-Gao, Ruifang; Mancina, Rosellina M; Alvarez, Marcus; Gelev, Kyla; Maurotti, Samantha; Vespasiani-Gentilucci, Umberto; Rosendaal, Frits Richard; Kozlitina, Julia; Pajukanta, Päivi; Pattou, François; Valenti, Luca; Romeo, Stefano
脂肪肝
代谢
发表日期：2025
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Genome-wide interaction study with body mass index identifies CYP7A1 and GIPR as genetic modulators of metabolic dysfunction-associated steatotic liver disease

全基因组相互作用研究结合体重指数发现，CYP7A1 和 GIPR 是代谢功能障碍相关脂肪肝疾病的遗传调节因子。

期刊:Clinical and Molecular Hepatology
影响因子:16.9
doi:10.3350/cmh.2025.0159
Jamialahmadi, Oveis; Mujica, Endrina; Morris, Lowri; Mancina, Rosellina Margherita; Ciociola, Ester; Qadri, Sami F; Maurotti, Samantha; Malvestiti, Francesco; Li-Gao, Ruifang; Ronzoni, Luisa; Tavaglione, Federica; Maude, Hannah; Allalou, Amin; Emmanouilidou, Anastasia; Vespasiani-Gentilucci, Umberto; Rosendaal, Frits Richard; Yki-Järvinen, Hannele; Cebola, Inês; Valenti, Luca; Hoed, Marcel den; Romeo, Stefano
GIP
脂肪肝
代谢
发表日期：2025
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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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