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

Proximity extension assay-based serum proteomic profiling identifies shared protein signatures in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders

基于邻近延伸分析的血清蛋白质组学分析可识别高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍的共同蛋白质特征。

期刊:Clinical Proteomics
影响因子:3.3
doi:10.1186/s12014-026-09588-2
Cinquina, Valeria; Carini, Giulia; Chiarelli, Nicola; Vezzoli, Marika; Bertini, Valeria; Venturini, Marina; Gandy, Woodrow; Colombi, Marina; Ritelli, Marco
发表日期：2026
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Integrative Multi-Omics Approach in Vascular Ehlers-Danlos Syndrome: Further Insights into the Disease Mechanisms by Proteomic Analysis of Patient Dermal Fibroblasts.

血管型埃勒斯-当洛斯综合征的整合多组学方法：通过对患者真皮成纤维细胞进行蛋白质组学分析，进一步深入了解疾病机制

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines12122749
Chiarelli Nicola, Cinquina Valeria, Zoppi Nicoletta, Bertini Valeria, Maddaluno Marianna, De Leonibus Chiara, Settembre Carmine, Venturini Marina, Colombi Marina, Ritelli Marco
细胞生物学
空间多组学
发表日期：2024
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RNA-Seq of Dermal Fibroblasts from Patients with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders Supports Their Categorization as a Single Entity with Involvement of Extracellular Matrix Degrading and Proinflammatory Pathomechanisms

对患有高活动性埃勒斯-当洛斯综合征和高活动性谱系障碍患者的真皮成纤维细胞进行RNA测序，支持将它们归类为单一实体，并涉及细胞外基质降解和促炎性发病机制。

期刊:Cells
影响因子:5.2
doi:10.3390/cells11244040
Ritelli, Marco; Chiarelli, Nicola; Cinquina, Valeria; Zoppi, Nicoletta; Bertini, Valeria; Venturini, Marina; Colombi, Marina
成纤维细胞
细胞生物学
发表日期：2022
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Human iPSC modelling of a familial form of atrial fibrillation reveals a gain of function of If and ICaL in patient-derived cardiomyocytes.

利用人类 iPSC 对家族性心房颤动进行建模，发现患者来源的心肌细胞中 If 和 ICaL 的功能得到增强

期刊:Cardiovascular Research
影响因子:13.3
doi:10.1093/cvr/cvz217
Benzoni Patrizia, Campostrini Giulia, Landi Sara, Bertini Valeria, Marchina Eleonora, Iascone Maria, Ahlberg Gustav, Olesen Morten Salling, Crescini Elisabetta, Mora Cristina, Bisleri Gianluigi, Muneretto Claudio, Ronca Roberto, Presta Marco, Poliani Pier Luigi, Piovani Giovanna, Verardi Rosanna, Di Pasquale Elisa, Consiglio Antonella, Raya Angel, Torre Eleonora, Lodrini Alessandra Maria, Milanesi Raffaella, Rocchetti Marcella, Baruscotti Mirko, DiFrancesco Dario, Memo Maurizio, Barbuti Andrea, Dell'Era Patrizia
细胞生物学
心肌炎
Human
发表日期：2020
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Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

图雷特综合征合并智力障碍患者Xq28假常染色体区域遗传性重复：病例报告

期刊:Molecular Cytogenetics
影响因子:1.4
doi:10.1186/s13039-020-00493-3
Maccarini, Stefania; Cipani, Annamaria; Bertini, Valeria; Skripac, Jelena; Salvi, Alessandro; Borsani, Giuseppe; Marchina, Eleonora
发表日期：2020
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SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement

对一名22q13.2-22qter重复的先证者进行SNP芯片和FISH分析，揭示了该重排的分子起源。

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-015-0193-y
Magri, Chiara; Marchina, Eleonora; Bertini, Valeria; Traversa, Michele; Savio, Giulia; Pilotta, Alba; Piovani, Giovanna
发表日期：2015
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