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

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

FBXW11 和 CTNNB1 热点突变相互排斥,激活 Wnt/β-catenin,从而驱动唾液腺基底细胞腺瘤的发生

Wong Kim, Bishop Justin A, Weinreb Ilan, Motta Marialetizia, Del Castillo Velasco-Herrera Martin, Bellacchio Emanuele, Ferreira Ingrid, van der Weyden Louise, Boccacino Jacqueline M, Lauri Antonella, Rotundo Giovannina, Ciolfi Andrea, Cheema Saamin, Olvera-León Rebeca, Offord Victoria, Droop Alastair, Vermes Ian, Allgäuer Michael, Hyrcza Martin, Anderson Elizabeth, Smith Katie, de Saint Aubain Nicolas, Mogler Carolin, Stenzinger Albrecht, Arends Mark J, Brenn Thomas, Tartaglia Marco, Adams David J

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa

双等位基因BAIAP3变异与孤立性视网膜色素变性相关

Cordeddu, Viviana; Flex, Elisabetta; Mignini, Luca; Bruselles, Alessandro; Cecchetti, Serena; Messina, Elena; Arasi, Maria Beatrice; Carvetta, Mattia; Straface, Emilio; Leone, Alessandro; Guadagnolo, Daniele; D'Asdia, Maria Cecilia; Nebbioso, Marcella; Bellacchio, Emanuele; Dell'Aquila, Carmen; Ziccardi, Lucia; Pizzuti, Antonio; De Luca, Alessandro; Tartaglia, Marco

Preclinical Assessment in Transgenic NOD Mice of a Novel Immunotherapy for Type 1 Diabetes: Lipoplexes Down-Modulate the Murine C1858T Ptpn22 Variant In Vitro

在转基因NOD小鼠中进行新型1型糖尿病免疫疗法的临床前评估:脂质体复合物在体外下调小鼠C1858T Ptpn22变体

Mezzani, Irene; Accardo, Antonella; Bellacchio, Emanuele; Fais, Luca; Diaferia, Carlo; Fierabracci, Alessandra

Spontaneous Regression of a Verrucous Venous Malformation Associated with a Previously Undescribed MAP3K3 Variant

与先前未描述的MAP3K3变异相关的疣状静脉畸形的自发性消退

Diociaiuti, Andrea; Bellacchio, Emanuele; Cesario, Claudia; Rossi, Sabrina; Zambruno, Giovanna; El Hachem, May

De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting

一名患有脑病、心肌病和致命性非癫痫性阵发性难治性呕吐的患者发现新生DNM1L突变

Berti, Beatrice; Verrigni, Daniela; Nasca, Alessia; Di Nottia, Michela; Leone, Daniela; Torraco, Alessandra; Rizza, Teresa; Bellacchio, Emanuele; Legati, Andrea; Palermo, Concetta; Marchet, Silvia; Lamperti, Costanza; Novelli, Antonio; Mercuri, Eugenio Maria; Bertini, Enrico Silvio; Pane, Marika; Ghezzi, Daniele; Carrozzo, Rosalba

Analysis of the AIRE Gene Promoter in Patients Affected by Autoimmune Polyendocrine Syndromes

自身免疫性多内分泌腺综合征患者AIRE基因启动子的分析

Annamaria Cudini, Caterina Nardella, Emanuele Bellacchio, Alessia Palma, Domenico Vittorio Delfino, Corrado Betterle, Marco Cappa, Alessandra Fierabracci

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants

MRD48的临床特征分析及两种新型致病性RAC1变体的功能表征

Priolo, Manuela; Zara, Erika; Radio, Francesca Clementina; Ciolfi, Andrea; Spadaro, Francesca; Bellacchio, Emanuele; Mancini, Cecilia; Pantaleoni, Francesca; Cordeddu, Viviana; Chiriatti, Luigi; Niceta, Marcello; Africa, Emilio; Mammì, Corrado; Melis, Daniela; Coppola, Simona; Tartaglia, Marco

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

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

与 COQ7 相关的原发性 CoQ10 缺乏症的表型、分子和功能特征:亚效配子变异和两种不同的疾病实体

Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Rocha Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M de Gusmao, Tomi L Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

具有多效性细胞后果的显性 KIF5B 变异导致不同的临床表型

Elisabetta Flex, Shahad Albadri, Francesca Clementina Radio, Serena Cecchetti, Antonella Lauri, Manuela Priolo, Marta Kissopoulos, Giovanna Carpentieri, Giulia Fasano, Martina Venditti, Valentina Magliocca, Emanuele Bellacchio, Carrie L Welch, Paolo C Colombo, Stephanie M Kochav, Richard Chang, Rebe