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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Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers-Danlos Syndrome: Focus on Vascular Prevention

血管型埃勒斯-当洛斯综合征的医学治疗现状及未来展望：聚焦血管预防

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm13144255
Buso, Giacomo; Corvini, Federica; Fusco, Elena Maria; Messina, Massimiliano; Cherubini, Fabio; Laera, Nicola; Paini, Anna; Salvetti, Massimo; De Ciuceis, Carolina; Ritelli, Marco; Venturini, Marina; Chiarelli, Nicola; Colombi, Marina; Muiesan, Maria Lorenza
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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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives

75例经典埃勒斯-当洛斯综合征患者的多系统表现：自然病史和疾病分类学视角

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-020-01470-0
Ritelli, Marco; Venturini, Marina; Cinquina, Valeria; Chiarelli, Nicola; Colombi, Marina
发表日期：2020
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Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

扩展隐性AEBP1相关经典型埃勒斯-当洛斯综合征的临床和突变谱

期刊:Genes
影响因子:2.8
doi:10.3390/genes10020135
Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Pezzaioli, Letizia; Formenti, Anna Maria; Chiarelli, Nicola; Colombi, Marina
EBP
EBP1
发表日期：2019
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Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

进一步明确 B3GAT3 突变的表型谱，并对连接病综合征进行文献综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes10090631
Ritelli Marco, Cinquina Valeria, Giacopuzzi Edoardo, Venturini Marina, Chiarelli Nicola, Colombi Marina
其它
发表日期：2019
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Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts

通过对患者皮肤成纤维细胞进行全转录组表达谱分析，揭示经典埃勒斯-当洛斯综合征发病机制的分子机制

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0211647
Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Ritelli, Marco; Colombi, Marina
细胞生物学
成纤维细胞
发表日期：2019
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Transcriptome-Wide Expression Profiling in Skin Fibroblasts of Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome Hypermobility Type

关节过度活动综合征/埃勒斯-当洛斯综合征高活动型患者皮肤成纤维细胞的转录组表达谱分析

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0161347
Chiarelli, Nicola; Carini, Giulia; Zoppi, Nicoletta; Dordoni, Chiara; Ritelli, Marco; Venturini, Marina; Castori, Marco; Colombi, Marina
细胞生物学
成纤维细胞
发表日期：2016
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Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

通过对携带两种新型 B3GALT6 突变的复合杂合子姐妹的皮肤成纤维细胞进行全转录组表达谱分析，深入了解半乳糖基转移酶 II (GalT-II) 缺乏症的病因病理学

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2014.11.005
Ritelli, Marco; Chiarelli, Nicola; Zoppi, Nicoletta; Dordoni, Chiara; Quinzani, Stefano; Traversa, Michele; Venturini, Marina; Calzavara-Pinton, Piergiacomo; Colombi, Marina
成纤维细胞
细胞生物学
GALT
发表日期：2015
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