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

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

前沿:1b 型糖原累积症的自身免疫风险增加与 T 细胞糖酵解参与度降低和调节性 T 细胞功能受损有关

Daniela Melis, Fortunata Carbone, Giorgia Minopoli, Claudia La Rocca, Francesco Perna, Veronica De Rosa, Mario Galgani, Generoso Andria, Giancarlo Parenti, Giuseppe Matarese

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial

抗腺相关病毒血清型 8 中和抗体和芳基硫酸酯酶 B 交叉反应免疫物质在粘多糖贮积症 VI 基因治疗试验候选患者中的流行情况

Rita Ferla, Pamela Claudiani, Marco Savarese, Karen Kozarsky, Rossella Parini, Maurizio Scarpa, Maria Alice Donati, Giovanni Sorge, John J Hopwood, Giancarlo Parenti, Simona Fecarotta, Vincenzo Nigro, Hatice Serap Sivri, Ans Van Der Ploeg, Generoso Andria, Nicola Brunetti-Pierri, Alberto Auricchio

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

人类淋巴母细胞微阵列数据的验证表明泛素-蛋白酶体系统和 NF-kB 在唐氏综合征的发病机制中发挥作用

Barbara Granese, Iris Scala, Carmen Spatuzza, Anna Valentino, Marcella Coletta, Rosa Anna Vacca, Pasquale De Luca, Generoso Andria

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

影响单体驱动蛋白 KIF22 运动域中两个相邻残基的复发性显性突变导致骨骼发育不良和关节松弛

Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovic, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarba