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

Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.

超越读通：ataluren 通过 mTOR-DRP1 调节恢复 FANCA 突变细胞的线粒体功能并降低氧化应激。

期刊:Cell Death Discovery
影响因子:7
doi:10.1038/s41420-026-02983-6
Balbi Matilde, Guidi Elisa, Hristodor Anca Manuela, Corsolini Fabio, Cossu Vanessa, Bottega Roberta, Serra Martina, Pestarino Sara, Bartolucci Martina, Cipolli Marco, Regis Stefano, Bezzerri Valentino, Cappelli Enrico, Ravera Silvia
细胞生物学
MTOR
DRP1
FANCA
mTOR
线粒体
氧化应激
发表日期：2026
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Unmasking Celiac Disease Through Chronic Urticaria: Case Report and Scoping Review

通过慢性荨麻疹揭示乳糜泻：病例报告和范围综述

期刊:Nutrients
影响因子:5
doi:10.3390/nu18030476
Cappozzo, Francesca; Schrempp Esteves, Catarina; Corsolini, Fabio; Lacovara, Andrea; Pastorino, Julieta; Naso, Matteo; Ferro, Jacopo; Malerba, Federica; Bonassi, Stefano; Crocco, Marco
代谢
乳糜泻
麻疹
发表日期：2026
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Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

对一个患有血小板减少症和其他先天性畸形的家族中发现的新型 FLI1 突变进行表征。

期刊:Haematologica
影响因子:7.9
doi:10.3324/haematol.2024.287120
Ammeti Daniele, Barozzi Serena, Pecci Alessandro, Zanchetta Melania Eva, Cesnik Edward, Ferlini Alessandra, Sanchini Mariabeatrice, Verga Laura, Bozzi Valeria, Corsolini Fabio, Faleschini Michela, Savoia Anna, Bigoni Stefania
血小板
发表日期：2025
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miR-29a-3p and TGF-β Axis in Fanconi anemia: mechanisms driving metabolic dysfunction and genome stability.

miR-29a-3p 和 TGF-β 轴在范可尼贫血中的作用：驱动代谢功能障碍和基因组稳定性的机制

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-025-05775-w
Bertola Nadia, Regis Stefano, Cossu Vanessa, Balbi Matilde, Serra Martina, Corsolini Fabio, Bottino Cristina, Degan Paolo, Dufour Carlo, Pierri Filomena, Cappelli Enrico, Ravera Silvia
代谢
TGF-β
发表日期：2025
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Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

涉及 ANKRD26 的染色体缺失导致融合蛋白的表达，该融合蛋白是 ANKRD26 相关血小板减少症的罪魁祸首

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26157330
Dell'Orso Gianluca, Passarella Tommaso, Cappato Serena, Cappelli Enrico, Regis Stefano, Maffei Massimo, Balbi Matilde, Ravera Silvia, Di Martino Daniela, Viaggi Silvia, Davì Sabrina, Corsolini Fabio, Giarratana Maria Carla, Arcuri Luca, Mariani Eugenia, Morini Riccardo, Massaccesi Erika, Guardo Daniela, Calvillo Michaela, Palmisani Elena, Coviello Domenico, Fioredda Francesca, Dufour Carlo, Bocciardi Renata, Miano Maurizio
其它
发表日期：2025
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Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review

手部僵硬并非仅仅是风湿病体征：一例早期发病的III-γ型黏脂沉积症病例报告及文献复习

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2025.101246
La Rosa, Alessandro; Pepe, Alessia; Tappino, Barbara; Corsolini, Fabio; Chiaro, Andrea; Madeo, Annalisa
发表日期：2025
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Checklist of pioneer benthic taxa found on Autonomous Reef Monitoring Structures (ARMS) in Terra Nova Bay (Ross Sea, Antarctica)

在南极洲罗斯海特拉诺瓦湾的自主礁体监测结构（ARMS）上发现的先锋底栖生物类群清单

期刊:Biodiversity Data Journal
影响因子:1.1
doi:10.3897/BDJ.13.e148863
Cometti, Valentina; Cecchetto, Matteo; Guzzi, Alice; Grillo, Marco; Noli, Nicholas Francesco; Corsolini, Simonetta; Schiaparelli, Stefano
多发性硬化症
发表日期：2025
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Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene

携带 SRSF4 基因变异的患者线粒体功能受损和骨髓衰竭

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms25042083
Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell'Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enric
信号转导
IHC
IP
WB
发表日期：2024
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A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

自我修复史：新生变异对FANCA c.2778+83C>G剪接突变的补偿效应

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1209138
Ilaria Persico ,Giorgia Fontana ,Michela Faleschini ,Melania Eva Zanchetta ,Daniele Ammeti ,Enrico Cappelli ,Fabio Corsolini ,Clara Mosa ,Angela Guarina ,Massimo Bogliolo ,Jordi Surrallés ,Carlo Dufour ,Piero Farruggia ,Anna Savoia ,Roberta Bottega
FANCA
发表日期：2023
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Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for FANCA-A Gene: The Central Role of DRP1

FANCA-A 基因突变导致淋巴母细胞和成纤维细胞线粒体动态改变：DRP1 的核心作用

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms24076557
Nadia Bertola, Silvia Bruno, Cristina Capanni, Marta Columbaro, Andrea Nicola Mazzarello, Fabio Corsolini, Stefano Regis, Paolo Degan, Enrico Cappelli, Silvia Ravera
细胞生物学
成纤维细胞
IHC
IP
WB
发表日期：2023
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