文献库，生知库 | 链接生命科学的每一步

日期影响因子

PML localization in tumor associated macrophages as a prognostic marker in triple negative breast cancer.

PML在肿瘤相关巨噬细胞中的定位可作为三阴性乳腺癌的预后标志物

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-01671-2

Vezzani Bianca, Missiroli Sonia, Pedriali Massimo, Querzoli Patrizia, Maestri Iva, Carcoforo Paolo, Lanza Giovanni, GafÃ Roberta, Pinton Paolo, Giorgi Carlotta

发表日期：2025

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Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

利用RNA疗法和碱基/引物编辑对抗常见的导致施瓦赫曼-戴蒙德综合征的SBDS c.258+2T>C突变

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms24044024

Peretto, Laura; Tonetto, Elena; Maestri, Iva; Bezzerri, Valentino; Valli, Roberto; Cipolli, Marco; Pinotti, Mirko; Balestra, Dario

发表日期：2023

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Monitoring Somatic Genetic Alterations in Circulating Cell-Free DNA/RNA of Patients with "Oncogene-Addicted" Advanced Lung Adenocarcinoma: A Real-World Clinical Study

监测“致癌基因依赖型”晚期肺腺癌患者循环游离DNA/RNA中的体细胞遗传改变：一项真实世界临床研究

期刊:International Journal of Molecular Sciences

影响因子:4.9

doi:10.3390/ijms23158546

Lupini, Laura; Roncarati, Roberta; Belluomini, Lorenzo; Lancia, Federica; Bassi, Cristian; D'Abundo, Lucilla; Michilli, Angelo; Guerriero, Paola; Fasano, Alessandra; Tiberi, Elisa; Salamone, Andrea; Cosi, Donato Michele; Saccenti, Elena; Tagliatti, Valentina; Maestri, Iva; Sabbioni, Silvia; Volinia, Stefano; Gafà, Roberta; Lanza, Giovanni; Frassoldati, Antonio; Negrini, Massimo

细胞生物学

发表日期：2022

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Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function

对F8外显子19及其邻近区域变异的多效性效应进行剖析，并探讨其对mRNA剪接和蛋白质功能的恢复作用

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2021.06.012

Lombardi, Silvia; Leo, Gabriele; Merlin, Simone; Follenzi, Antonia; McVey, John H; Maestri, Iva; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario

发表日期：2021

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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf(ash) mice, and govern susceptibility to RNA-based therapies

OTC基因第4内含子变异介导了人类和spf(ash)小鼠中c.386G>A突变引起的致病性剪接模式，并决定了对RNA疗法的敏感性。

期刊:Molecular Medicine

影响因子:6.4

doi:10.1186/s10020-021-00418-9

Sacchetto, Claudia; Peretto, Laura; Baralle, Francisco; Maestri, Iva; Tassi, Francesca; Bernardi, Francesco; van de Graaf, Stan F J; Pagani, Franco; Pinotti, Mirko; Balestra, Dario

发表日期：2021

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Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency

新一代测序和重组表达技术揭示了异常剪接机制，并为因子VII缺乏症提供了矫正策略。

期刊:Haematologica

影响因子:7.9

doi:10.3324/haematol.2019.217539

Ferraresi, Paolo; Balestra, Dario; Guittard, Caroline; Buthiau, Delphine; Pan-Petesh, Brigitte; Maestri, Iva; Farah, Roula; Pinotti, Mirko; Giansily-Blaizot, Muriel

发表日期：2020

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An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A

改变的剪接登记系统解释了ExSpeU1介导的对导致血友病A的剪接突变的差异性拯救作用

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2019.00974

Balestra, Dario; Maestri, Iva; Branchini, Alessio; Ferrarese, Mattia; Bernardi, Francesco; Pinotti, Mirko

发表日期：2019

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NLRP1 polymorphisms in patients with asbestos-associated mesothelioma

石棉相关间皮瘤患者的NLRP1多态性

期刊:Infectious Agents and Cancer

影响因子:2.8

doi:10.1186/1750-9378-7-25

Girardelli, Martina; Maestri, Iva; Rinaldi, Rosa R; Tognon, Mauro; Boldorini, Renzo; Bovenzi, Massimo; Crovella, Sergio; Comar, Manola

发表日期：2012

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Activation of a cryptic splice site in a potentially lethal coagulation defect accounts for a functional protein variant

潜在致命性凝血缺陷中隐蔽剪接位点的激活导致功能性蛋白变体的产生。

doi:10.1016/j.bbadis.2012.03.001

Cavallari, Nicola; Balestra, Dario; Branchini, Alessio; Maestri, Iva; Chuamsunrit, Ampaiwan; Sasanakul, Werasak; Mariani, Guglielmo; Pagani, Franco; Bernardi, Francesco; Pinotti, Mirko

发表日期：2012

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