Cinquina Valeria相关文献与解析，生知库 | 链接生命科学的每一步

Toso, Diego; Cinquina, Valeria; Econimo, Laura; Cortinovis, Roberta; Zeni, Letizia; Tornambè, Vittoria; Dordoni, Chiara; Ritelli, Marco; Savoldi, Gianfranco; Mazza, Cinzia; Scolari, Francesco; Alberici, Federico; Izzi, Claudia

发表日期：2026

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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

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

TGFBR1倒数第二个外显子中的截断变异体逃脱了无义介导的mRNA降解，导致Loeys-Dietz综合征。

期刊:European Journal of Human Genetics

影响因子:4.6

doi:10.1038/s41431-022-01279-4

Fortugno, Paola; Monetta, Rosanna; Cinquina, Valeria; Rigon, Chiara; Boaretto, Francesca; De Luca, Chiara; Zoppi, Nicoletta; Di Leandro, Luana; De Domenico, Emanuela; Di Daniele, Arianna; Ippoliti, Rodolfo; Angelucci, Francesco; Di Cesare, Ernesto; De Paulis, Ruggero; Salviati, Leonardo; Colombi, Marina; Brancati, Francesco; Ritelli, Marco

发表日期：2023

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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

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

PURA综合征表型扩展：一名携带复发性PURA p.(Phe233del)致病变异的儿童表现出与皮肤松弛症的相似性

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.1562

Cinquina, Valeria; Ciaccio, Claudia; Venturini, Marina; Masson, Riccardo; Ritelli, Marco; Colombi, Marina

发表日期：2021

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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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Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing

在一名患有不完全型经典埃勒斯-当洛斯综合征的患者中鉴定出新的COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup)变异：表型指导的基因检测的重要性

期刊:Molecular Genetics & Genomic Medicine

影响因子:1.6

doi:10.1002/mgg3.1422

Ritelli, Marco; Cinquina, Valeria; Venturini, Marina; Colombi, Marina

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

基于24个新发现的家族和文献数据的Loeys-Dietz综合征基因型分类

期刊:Genes

影响因子:2.8

doi:10.3390/genes10100764

Camerota, Letizia; Ritelli, Marco; Wischmeijer, Anita; Majore, Silvia; Cinquina, Valeria; Fortugno, Paola; Monetta, Rosanna; Gigante, Laura; Marfan Syndrome Study Group Tor Vergata University Hospital; Sangiuolo, Federica Carla; Novelli, Giuseppe; Colombi, Marina; Brancati, Francesco

发表日期：2019

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Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

由新型TNXB变异引起的经典型埃勒斯-当洛斯综合征的临床和分子特征

期刊:Genes

影响因子:2.8

doi:10.3390/genes10110843

Rymen, Daisy; Ritelli, Marco; Zoppi, Nicoletta; Cinquina, Valeria; Giunta, Cecilia; Rohrbach, Marianne; Colombi, Marina

发表日期：2019

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Sodium-Glucose Cotransporter-2-inhibitors in Adult Patients With Alport Syndrome

钠-葡萄糖协同转运蛋白-2抑制剂在成人阿尔波特综合征患者中的应用

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。

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

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

TGFBR1倒数第二个外显子中的截断变异体逃脱了无义介导的mRNA降解，导致Loeys-Dietz综合征。

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。

Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa

PURA综合征表型扩展：一名携带复发性PURA p.(Phe233del)致病变异的儿童表现出与皮肤松弛症的相似性

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

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing

在一名患有不完全型经典埃勒斯-当洛斯综合征的患者中鉴定出新的COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup)变异：表型指导的基因检测的重要性

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

基于24个新发现的家族和文献数据的Loeys-Dietz综合征基因型分类

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

由新型TNXB变异引起的经典型埃勒斯-当洛斯综合征的临床和分子特征