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

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

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes

将自动膜片钳技术与光遗传学技术相结合,可以实现对背根神经节神经元亚型的选择性记录。

Vanoye, Carlos G; Ren, Dongjun; Belmadani, Abdelhak; Malfait, Anne-Marie; Miller, Richard J; George, Alfred L

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

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

Defining the polycystin pharmacophore through high-throughput screening and computational biophysics

通过高通量筛选和计算生物物理学方法定义多囊蛋白药效团

Guadarrama, Eduardo; Vanoye, Carlos G; DeCaen, Paul G

SUN-055 Treading the Unknown Path: Tackling a Rare Form of Cushing Disease

SUN-055 踏上未知之路:攻克一种罕见的库欣病

Abreo, Timothy J; Thompson, Emma C; Madabushi, Anuraag; Park, Kristen L; Soh, Heun; Varghese, Nissi; Vanoye, Carlos G; Springer, Kristen; Johnson, Jim; Sims, Scotty; Ji, Zhigang; Chavez, Ana G; Jankovic, Miranda J; Habte, Bereket; Zuberi, Aamir R; Lutz, Cathleen M; Wang, Zhao; Krishnan, Vaishnav; Dudler, Lisa; Einsele-Scholz, Stephanie; Noebels, Jeffrey L; George, Alfred L; Maheshwari, Atul; Tzingounis, Anastasios; Cooper, Edward C; Bang, Neha; Diab, Mousab; Lim, Jonea

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