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

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

CAPRIN1 单倍体不足会导致神经发育障碍,引发语言障碍、注意力缺陷多动障碍 (ADHD) 和自闭症

Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer L Howe, Emanuele Agolini, Domenico A Coviello, Ingrid van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia P Bruno, Alessandra Renieri,

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

ANK2 功能丧失变异与癫痫有关,并导致 hiPSC 衍生的神经元网络中轴突起始节段可塑性受损和网络活动过度活跃

Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons

DDX53 编码序列的破坏对 iPSC 衍生的人类 NGN2 神经元的影响有限

Muhammad Faheem, Eric Deneault, Roumiana Alexandrova, Deivid C Rodrigues, Giovanna Pellecchia, Carole Shum, Mehdi Zarrei, Alina Piekna, Wei Wei, Jennifer L Howe, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, P Joel Ross, Clarrisa A Bradley, James Ellis, Stephen W Scherer

Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila

trpγ 基因突变(trpγ 是自闭症候选基因 TRPC6 的同源物)会导致果蝇出现类似自闭症的行为缺陷

Angelina Palacios-Muñoz #, Danielle de Paula Moreira #, Valeria Silva, Isaac E García, Francisco Aboitiz, Mehdi Zarrei, Gabriele Campos, Olivia Rennie, Jennifer L Howe, Evdokia Anagnostou, Patricia Ambrozewic, Stephen W Scherer, Maria Rita Passos-Bueno, John Ewer

CNTN5-/+ or EHMT2-/+ human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

自闭症患者的 CNTN5-/+ 或 EHMT2-/+ 人类 iPSC 衍生神经元会形成过度活跃的神经网络

Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil, Vickie Kwan, Susan Walker, Peter Pasceri, Frederick P Roth, Ryan Kc Yuen, Karun K Singh, James Ellis, Stephen W Scherer

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

通过基因编辑彻底破坏自闭症易感基因,主要降低同源人类神经元的功能连接

Eric Deneault, Sean H White, Deivid C Rodrigues, P Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C Lionel, Peter Pasceri, Daniel