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

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms

庞贝病中肠-肌轴的表观遗传调控：微生物群特征揭示细胞和分子致病机制

期刊:Molecular Metabolism
影响因子:6.6
doi:10.1016/j.molmet.2026.102364
Venezia, Marika; Russo, Maria; Colomba, Paolo; Zizzo, Carmela; Vinci, Martina; Marsana, Emanuela M; D'Errico, Annalisa; Giacalone, Irene; Duro, Giovanni; Moschetti, Marta
微生物学
信号转导
细胞生物学
表观遗传
发表日期：2026
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New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases

新型p65 iso5亚型作为地塞米松结合蛋白：炎症性疾病的新型潜在治疗靶点

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2026.1748334
Spinelli, Gaetano; Biddeci, Giuseppa; Iannolo, Gioacchin; Colomba, Paolo; Duro, Giovanni; Marsana, Emanuela Maria; Aronica, Tommaso Silvano; Di Blasi, Francesco
炎症/感染
炎症
发表日期：2026
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Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex

法布里病与炎症：NF-κB复合物亚型p65 iso5的潜在作用

期刊:Cells
影响因子:5.2
doi:10.3390/cells14030230
Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; Duro, Giovanni; Anania, Monia; Francofonte, Daniele; Di Blasi, Francesco
Immunology/Inflammation
NF-κB
炎症/感染
炎症
发表日期：2025
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The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study

鉴定出一种与安德森-法布里病经典表型相关的新型GLA基因致病变异：一项临床和分子研究

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26020470
Giacalone, Irene; Ruzzi, Luigina; Anania, Monia; Cuonzo, Mariateresa; Marsana, Emanuela Maria; Mastrippolito, Silvia; Francofonte, Daniele; Bucco, Silvia; D'Errico, Annalisa; Longo, Maria Olimpia; Zizzo, Carmela; Iarlori, Luigia; Duro, Giovanni; Colomba, Paolo
发表日期：2025
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Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease

鉴定出与安德森-法布里病相关的GLA基因中的四个新突变

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26020473
Anania, Monia; Pieruzzi, Federico; Giacalone, Irene; Trezzi, Barbara; Marsana, Emanuela Maria; Roggero, Letizia; Francofonte, Daniele; Stefanoni, Michele; Vinci, Martina; Zizzo, Carmela; Zora, Marcomaria; Di Chiara, Tiziana; Duro, Giulia; Duro, Giovanni; Colomba, Paolo
发表日期：2025
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Identification of Novel Mutations in Patients Affected by Gaucher Disease

戈谢病患者新突变的鉴定

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26083918
Anania, Monia; Giacomarra, Miriam; D'Errico, Annalisa; Marano, Massimo; Tartaglione, Immacolata; Spada, Marco; Pagliardini, Veronica; De Paolis, Maria Rosaria; Giuffrida, Gaetano; Duro, Giulia; Di Chiara, Tiziana; Francofonte, Daniele; Marsana, Emanuela Maria; Colomba, Paolo; Duro, Giovanni; Zizzo, Carmela
发表日期：2025
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Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression

法布里病超越贮积期：炎症在疾病进展中的作用

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26157054
Biddeci, Giuseppa; Spinelli, Gaetano; Colomba, Paolo; Duro, Giovanni; Giacalone, Irene; Di Blasi, Francesco
炎症/感染
Immunology/Inflammation
炎症
发表日期：2025
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VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies

VEXAS综合征：遗传学、性别差异、临床见解、诊断陷阱和新兴疗法

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26167931
Corrao, Salvatore; Moschetti, Marta; Scibetta, Salvatore; Calvo, Luigi; Giardina, Annarita; Cangemi, Ignazio; Zizzo, Carmela; Colomba, Paolo; Duro, Giovanni
发表日期：2025
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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease

庞贝病精准医疗、遗传学、表观遗传学和人工智能的亮点

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26020757
Moschetti, Marta; Venezia, Marika; Giacomarra, Miriam; Marsana, Emanuela Maria; Zizzo, Carmela; Duro, Giulia; D'Errico, Annalisa; Colomba, Paolo; Duro, Giovanni
Epigenetics
表观遗传
发表日期：2025
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Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations

I型粘多糖贮积症和α-甘露糖苷贮积症——表型相似但基因不同：诊断和治疗考量

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines13051199
Venezia, Marika; Vinci, Martina; Colomba, Paolo; Zizzo, Carmela; Duro, Giovanni; Moschetti, Marta
发表日期：2025
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