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

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

Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

孔域 KCNQ2 脑病的多种分子和细胞机制

Timothy J Abreo, Emma C Thompson #, Anuraag Madabushi #, Kristen L Park #, Heun Soh, Nissi Varghese, Carlos G Vanoye, Kristen Springer, Jim Johnson, Scotty Sims, Zhigang Ji, Ana G Chavez, Miranda J Jankovic, Bereket Habte, Aamir R Zuberi, Cathleen M Lutz, Zhao Wang, Vaishnav Krishnan, Lisa Dudler, S

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

Early Lung Cancer Detection via AI-Enhanced CT Image Processing Software

利用人工智能增强型CT图像处理软件进行早期肺癌检测

Silos-Sánchez, Joel; Ruiz-Vanoye, Jorge A; Trejo-Macotela, Francisco R; Márquez-Vera, Marco A; Diaz-Parra, Ocotlán; Martínez-Mireles, Josué R; Ruiz-Jaimes, Miguel A; Vera-Jiménez, Marco A

Effects of the ketogenic diet on dentate gyrus and CA3 KCC2 expression in male rats with electrical amygdala kindling-induced seizures

生酮饮食对电刺激杏仁核诱发癫痫的雄性大鼠齿状回和CA3 KCC2表达的影响

Granados-Rojas, Leticia; Hernández-López, Leonardo; Bahena-Alvarez, Emmanuel Leonardo; Juárez-Zepeda, Tarsila Elizabeth; Custodio, Verónica; Martínez-Galindo, Joyce Graciela; Jerónimo-Cruz, Karina; Tapia-Rodríguez, Miguel; Vanoye-Carlo, America; Duran, Pilar; Rubio, Carmen