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

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations

新发现的ARF3变异体加强了高尔基体碎裂与脑畸形之间的因果关系。

Muto, Valentina; Fasano, Giulia; Radio, Francesca Clementina; Pedalino, Catia; Carvetta, Mattia; Coppola, Simona; Zara, Erika; Petrini, Stefania; Schluth-Bolard, Caroline; Bilbault, Claire; El Chehadeh, Salima; Gérard, Bénédicte; de Saint-Martin, Anne; Koboldt, Daniel C; Sites, Emily; Curry, Cynthia; Herget, Theresia; Höing, Ann-Sophie; von Elsner, Leonie; Barr, Eileen Elizabeth; Hodoglugil, Ugur; Slavotinek, Anne; Tartaglia, Marco; Lauri, Antonella

Effect of the autoimmune-associated genetic variant PTPN22 R620W on neutrophil activation and function in patients with insulin-dependent diabetes mellitus

自身免疫相关基因变异PTPN22 R620W对胰岛素依赖型糖尿病患者中性粒细胞活化和功能的影响

Belcastro, Eugenia; Cudini, Annamaria; Mezzani, Irene; Petrini, Stefania; D'Oria, Valentina; Schiaffini, Riccardo; Scarsella, Marco; Russo, Anna Lo; Fierabracci, Alessandra

Optimization of Lipoplexes Functionalized with a Sialic Acid Mimetic (F9-PEG) to Target the C1858T PTPN22 Variant for Preclinical Assessment of a Novel Immunotherapy in Endocrine Autoimmunity

利用唾液酸类似物(F9-PEG)功能化的脂质体复合物优化靶向C1858T PTPN22变体,用于内分泌自身免疫新型免疫疗法的临床前评估

Sennato, Simona; Paldino, Giorgia; Bombelli, Cecilia; Mezzani, Irene; Petrini, Stefania; Delfino, Domenico Vittorio; Fiorentino, Francesco; Marianecci, Carlotta; Ciogli, Alessia; Rotili, Dante; Ceccacci, Francesca; Fierabracci, Alessandra

Super-resolution microscopy reveals glioma cell footprints and exosome deposits

超高分辨率显微镜揭示了胶质瘤细胞足迹和外泌体沉积

Petrini, Stefania; Eghiaian, Frédéric; Apollonio, Valentina; Pericoli, Giulia; Vinci, Maria

Ketogenic Diet and Progression of Kidney Disease in Animal Models of Nephropathic Cystinosis.

生酮饮食与肾病性胱氨酸病动物模型肾脏疾病进展的关系

Bellomo Francesco, Pugliese Sara, Cairoli Sara, Krohn Patrick, De Stefanis Cristiano, Raso Roberto, Rega Laura Rita, Taranta Anna, De Leo Ester, Ciolfi Andrea, Cicolani Nicolò, Petrini Stefania, Luciani Alessandro, Goffredo Bianca Maria, Porzio Ottavia, Devuyst Olivier, Dionisi-Vici Carlo, Emma Francesco

Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

TUBA1A基因中一种新的功能缺失突变会损害微管蛋白的稳定性和蛋白质稳态,导致痉挛性截瘫和共济失调。

Zocchi, Riccardo; Bellacchio, Emanuele; Piccione, Michela; Scardigli, Raffaella; D'Oria, Valentina; Petrini, Stefania; Baranano, Kristin; Bertini, Enrico; Sferra, Antonella

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

SCUBE3功能丧失会导致一种可识别的隐性遗传发育障碍,这是由于骨形态发生蛋白信号传导缺陷所致。

Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Grüning, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Pode-Shakked, Ben; Albayrak, Hatice Mutlu; Işık, Emregül; Wit, Jan M; Dittrich, Marcus; Freire, Bruna L; Bertola, Debora R; Jorge, Alexander A L; Barel, Ortal; Sabir, Ataf H; Al Tenaiji, Amal M J; Taji, Sulaima M; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S L; Girisha, Katta M; Haaf, Thomas; Taylor, Jenny C; Dallapiccola, Bruno; Alkuraya, Fowzan S; Yang, Ruey-Bing; Tartaglia, Marco

Lamin A/C Mechanosensor Drives Tumor Cell Aggressiveness and Adhesion on Substrates With Tissue-Specific Elasticity

Lamin A/C 机械传感器驱动肿瘤细胞在具有组织特异性弹性的基质上的侵袭性和粘附性

Urciuoli, Enrica; D'Oria, Valentina; Petrini, Stefania; Peruzzi, Barbara

Phosphoinositide-specific phospholipase C isoforms are conveyed by osteosarcoma-derived extracellular vesicles

磷脂酰肌醇特异性磷脂酶C同工酶由骨肉瘤来源的细胞外囊泡运输

Urciuoli, Enrica; Leopizzi, Martina; Di Maio, Valeria; Petrini, Stefania; D'Oria, Valentina; Giorda, Ezio; Scarsella, Marco; Della Rocca, Carlo; Lo Vasco, Vincenza Rita; Peruzzi, Barbara

Dysregulated miR-155 and miR-125b Are Related to Impaired B-cell Responses in Down Syndrome

miR-155 和 miR-125b 的表达失调与唐氏综合征患者 B 细胞反应受损有关

Farroni, Chiara; Marasco, Emiliano; Marcellini, Valentina; Giorda, Ezio; Valentini, Diletta; Petrini, Stefania; D'Oria, Valentina; Pezzullo, Marco; Cascioli, Simona; Scarsella, Marco; Ugazio, Alberto G; De Vincentiis, Giovanni C; Grimsholm, Ola; Carsetti, Rita