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

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2

上游开放阅读框抑制神经元钾通道KCNQ2的翻译

Huey, Dalton J; Guadarrama, Eduardo; DeKeyser, Jean-Marc; Vanoye, Carlos G; Simmons, Christine Q; Li, Qianru; Stroup, Emily K; Ji, Zhe; George, Alfred L

TDP-43-dependent mis-splicing of KCNQ2 triggers intrinsic neuronal hyperexcitability in ALS/FTD.

TDP-43 依赖的 KCNQ2 错误剪接引发 ALS/FTD 中的内在神经元过度兴奋。

Joseph Brian J, Marshall Kelly A, Harley Peter, Mann Jacob R, Alessandrini Francesco, Vanoye Carlos G, Chi Wanhao, Prudencio Mercedes, Simkin Dina, Kao Tzu-Ting, Desai Reshma R, Keuss Matthew J, Barattucci Simone, Zanovello Matteo, Mehta Puja R, DeKeyser Jean-Marc, Limone Francesco, Lee Jonathan, Brown Anna-Leigh, Leyton-Jaimes Marcel F, Nash Leslie A, Juan Irune Guerra San, Aronica Eleonora, Wainger Brian J, Shah Mala, Goswami Anand, Shneider Neil A, Dickson Dennis W, Burrone Juan, Zhang Chaolin, Wichterle Hynek, Petrucelli Leonard, Watts Jonathan K, George Alfred L Jr, Fratta Pietro, Eggan Kevin, Kiskinis Evangelos

Differential roles of Na(V)1.2 and Na(V)1.6 in neocortical pyramidal cell excitability.

Na(V)1.2 和 Na(V)1.6 在新皮层锥体细胞兴奋性中的不同作用

Garcia Joshua D, Wang Chenyu, Alexander Ryan P D, Banks Emmie, Fenton Timothy, DeKeyser Jean-Marc, Abramova Tatiana V, George Alfred L Jr, Ben-Shalom Roy, Hackos David H, Bender Kevin J

Differential roles of Na (V) 1.2 and Na (V) 1.6 in neocortical pyramidal cell excitability

Na(V)1.2 和 Na(V)1.6 在新皮层锥体细胞兴奋性中的不同作用

Garcia, Joshua D; Wang, Chenyu; Alexander, Ryan P D; Banks, Emmie; Fenton, Timothy; DeKeyser, Jean-Marc; Abramova, Tatiana V; George, Alfred L; Ben-Shalom, Roy; Hackos, David H; Bender, Kevin J

Classification models distinguish functional and trafficking effects of KCNQ1 variants to enhance variant interpretation

分类模型区分KCNQ1变异体的功能效应和转运效应,以增强对变异体的解读。

Chang-Gonzalez, Ana C; Bell, Eric W; Vanoye, Carlos G; Guadarrama, Eduardo; Desai, Reshma R; DeKeyser, Jean-Marc; Butcher, Kathryn R; Scott, Thomas; Sanders, Charles R; George, Alfred L Jr; Ledwitch, Kaitlyn V; Meiler, Jens

Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders

扩展的临床表型谱与SCN2A相关疾病的变异功能相关

Berg, Anne T; Thompson, Christopher H; Myers, Leah Schust; Anderson, Erica; Evans, Lindsey; Kaiser, Ariela J E; Paltell, Katherine; Nili, Amanda N; DeKeyser, Jean-Marc L; Abramova, Tatiana V; Nesbitt, Gerry; Egan, Shawn M; Vanoye, Carlos G; George, Alfred L Jr

Scanning mutagenesis of the voltage-gated sodium channel Na(V)1.2 using base editing

利用碱基编辑技术对电压门控钠通道Na(V)1.2进行扫描诱变

Pablo, Juan Lorenzo B; Cornett, Savannah L; Wang, Lei A; Jo, Sooyeon; Brünger, Tobias; Budnik, Nikita; Hegde, Mudra; DeKeyser, Jean-Marc; Thompson, Christopher H; Doench, John G; Lal, Dennis; George, Alfred L Jr; Pan, Jen Q

Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes

一种新型的儿童交替性偏瘫小鼠模型表现出显著的运动和癫痫表型

Hawkins, Nicole A; DeKeyser, Jean-Marc; Kearney, Jennifer A; George, Alfred L Jr

Sex and Gene Influence Arrhythmia Susceptibility in Murine Models of Calmodulinopathy

性别和基因影响钙调蛋白病小鼠模型的心律失常易感性

Wren, Lisa M; DeKeyser, Jean-Marc; Barefield, David Y; Hawkins, Nicole A; McNally, Elizabeth M; Kearney, Jennifer A; Wasserstrom, J Andrew; George, Alfred L Jr

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties

与癫痫相关的SCN2A (NaV1.2)变异体表现出多样且复杂的功能特性。

Thompson, Christopher H; Potet, Franck; Abramova, Tatiana V; DeKeyser, Jean-Marc; Ghabra, Nora F; Vanoye, Carlos G; Millichap, John J; George, Alfred L