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

D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload

ATP1A3编码的Na/K-ATPase α3中的D801N突变通过钠钙交换器介导的钙超载导致心律失常。

Bidzimou, Minu-Tshyeto K; Muralidharan, Padmapriya; Zhang, Zhushan; Raza, Danyal; Needs, Daniel; Sun, Bo; Perelli, Robin M; Moya-Mendez, Mary E; Manivannan, P K Rakesh; Hunanyan, Arsen S; Helfer, Abbigail; Simmons, Christine Q; George, Alfred L Jr; Bers, Donald M; Bursac, Nenad; Mikati, Mohamad A; Landstrom, Andrew P

High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants

高通量筛选鉴定出一种与长QT综合征相关的KCNQ1变异体的转运校正因子

Moster, Katherine R Clowes; Vanoye, Carlos G; Chang-Gonzalez, Ana C; Romaine, Ian M; Stefanski, Katherine M; Wilkinson, Mason C; Bauer, Joshua A; Hasaka, Thomas P; Days, Emily L; Desai, Reshma R; Butcher, Kathryn R; Sulikowski, Gary A; Waterson, Alex G; Meiler, Jens; Ledwitch, Kaitlyn V; George, Alfred L Jr; Sanders, Charles R

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with K(V)7.2 dysfunction

KCNQ2 发育性和癫痫性脑病中的神经发育特征可能与 K(V)7.2 功能障碍的关联有限。

Bidwell, Jessa S; Vanoye, Carlos G; Desai, Reshma R; Berg, Anne T; George, Alfred L Jr

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

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

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis

对KCNQ1变异体的整合分析揭示了1型长QT综合征发病机制的分子机制

Brewer, Kathryn R; Vanoye, Carlos G; Huang, Hui; Clowes Moster, Katherine R; Desai, Reshma R; Hayes, James B; Burnette, Dylan T; George, Alfred L Jr; Sanders, Charles R

Rare dysfunctional SCN2A variants are associated with malformation of cortical development

罕见的SCN2A功能异常变异与皮质发育畸形有关

Clatot, Jérôme; Thompson, Christopher H; Sotardi, Susan; Jiang, Jinan; Trivisano, Marina; Balestrini, Simona; Ward, D Isum; Ginn, Natalie; Guaragni, Brunetta; Malerba, Laura; Vakrinou, Angeliki; Sherer, Mia; Helbig, Ingo; Somarowthu, Ala; Sisodiya, Sanjay M; Ben-Shalom, Roy; Guerrini, Renzo; Specchio, Nicola; George, Alfred L Jr; Goldberg, Ethan M

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

Changes in S-Citalopram Plasma Concentrations Across Pregnancy and Postpartum

妊娠期和产后血浆中S-西酞普兰浓度的变化

Stika, Catherine S; Avram, Michael J; George, Alfred L Jr; Yang, Amy; Ciolino, Jody D; Jeong, Hyunyoung; Venkataramanan, Raman; Caritis, Steve N; Costantine, Maged M; Wisner, Katherine L

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2

KCNE1变异体的功能分析揭示了Jervell和Lange-Nielsen综合征2型的群体携带者频率。

Vanoye, Carlos G; Desai, Reshma R; John, Jordan D; Hoffman, Steven C; Fink, Nicolas; Zhang, Yue; Venkatesh, Omkar G; Roe, Jonathan; Adusumilli, Sneha; Jairam, Nirvani P; Sanders, Charles R; Gordon, Adam S; George, Alfred L Jr