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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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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NK Cell Function Regulation by TGF-β-Induced Epigenetic Mechanisms

TGF-β诱导的表观遗传机制对NK细胞功能的调控

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2020.00311
Regis, Stefano; Dondero, Alessandra; Caliendo, Fabio; Bottino, Cristina; Castriconi, Roberta
TGF-β
信号转导
细胞生物学
表观遗传
发表日期：2020
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TGF-β1 Downregulates the Expression of CX(3)CR1 by Inducing miR-27a-5p in Primary Human NK Cells

TGF-β1通过诱导原代人NK细胞中miR-27a-5p的表达来下调CX(3)CR1的表达

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2017.00868
Regis, Stefano; Caliendo, Fabio; Dondero, Alessandra; Casu, Beatrice; Romano, Filomena; Loiacono, Fabrizio; Moretta, Alessandro; Bottino, Cristina; Castriconi, Roberta
CR1
TGF-β
Human
TGF-β1
细胞生物学
发表日期：2017
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Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

对38个PLP1相关疾病家族的PLP1基因进行分子遗传学分析：鉴定和功能表征11个新的PLP1突变

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-6-40
Grossi, Serena; Regis, Stefano; Biancheri, Roberta; Mort, Matthew; Lualdi, Susanna; Bertini, Enrico; Uziel, Graziella; Boespflug-Tanguy, Odile; Simonati, Alessandro; Corsolini, Fabio; Demir, Ercan; Marchiani, Valentina; Percesepe, Antonio; Stanzial, Franco; Rossi, Andrea; Vaurs-Barrière, Catherine; Cooper, David N; Filocamo, Mirella
PLP1
发表日期：2011
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Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

鉴定和表征导致克拉伯病的15种新的GALC基因突变

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21367
Tappino, Barbara; Biancheri, Roberta; Mort, Matthew; Regis, Stefano; Corsolini, Fabio; Rossi, Andrea; Stroppiano, Marina; Lualdi, Susanna; Fiumara, Agata; Bembi, Bruno; Di Rocco, Maja; Cooper, David N; Filocamo, Mirella
发表日期：2010
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