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

Claudin 24-A novel enhancer of AMPA receptor fidelity.

Claudin 24——AMPA受体保真度的新型增强剂。

Strasdeit Tobias, Amin Ehsan, Obst Sebastian, Biermann Barbara, Newton Thomas P, Kösters Simon Chris, Schouwink Marten, Fedotov Sergey, Shaukat Javeria, Bhattacharya Subhrajit, Aslam Muhammad, Anstötz Max, Okka Faik Nadi, Sevillano Quispe Oscar Gabriel, Bouvain Pascal, Vedyashkin Julia, Sobolevsky Alexander I, Traynelis Stephen F, von Engelhardt Jakob, Erlenhardt Nadine, Hollmann Michael, Klöcker Nikolaj

Inhibition of GluN2B-containing N-methyl-D-aspartate receptors by radiprodil.

雷迪普罗地尔对含 GluN2B 的 N-甲基-D-天冬氨酸受体的抑制作用。

Banke Tue G, Regan Michael C, Perszyk Riley E, Zhang Lu, Xing Hao, Chen Jiahui, Won Sehoon, Simorowski Noriko, Diaz Eva S, Kim Sukhan, Song Rui, Rong Jian, Zhou Xin, Chaudhary Ahmad F, Zhang Jing, Traynelis John F, McDaniels Ellington D, Nitsche Karolina, Roache Steve, Raymond Christopher S, Low Chian-Ming, Myers Scott J, Roche Katherine W, Liang Steven H, Traynelis Stephen F, Furukawa Hiro, Yuan Hongjie

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

GRIN2A基因的无义突变会增加早发性精神分裂症和其他精神障碍的风险,并有可能实现精准治疗。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

更正:GRIN2A 基因缺失变异会增加早发性精神分裂症和其他精神障碍的风险,并可能使精准治疗成为可能。

Lemke, Johannes R; Eoli, Andrea; Krey, Ilona; Popp, Bernt; Strehlow, Vincent; Wittekind, Dirk A; Vuorinen, Anna-Leena; Aldhalaan, Hesham M; Baer, Sarah; de Saint Martin, Anne; Hammer, Trine B; Herman, Isabella; Hornemann, Frauke; Ingebrigtsen, Trine; Lederer, Damien; Lesca, Gaetan; Marafie, Dana; Mathot, Mikael; Rosenfeld, Jill A; Møller, Rikke S; Schelhaas, Helenius J; Stillman, Chelsey; Orsini, Alessandro; Patel, Anup D; Piard, Juliette; Veggiotti, Pierangelo; Vlaskamp, Danique R M; Weckhuysen, Sarah; Traynelis, Stephen F; Benke, Tim A; Heyne, Henrike O; Syrbe, Steffen

Memantine treatment in individuals with GRIN gain-of-function variants is associated with improvements in behavior, development, and seizure frequency

在携带GRIN功能获得性变异的个体中,美金刚治疗与行为、发育和癫痫发作频率的改善相关。

Karnstedt, Maike; Perszyk, Riley E; Myers, Scott J; McDaniels, Ellington; Somorai, Marta; Borggraefe, Ingo; Veenma, Danielle C M; Schoonjans, An-Sofie; Striano, Pasquale; Fantaneanu, Tadeu A; Syrbe, Steffen; Park, Kristen; Chen, Wenjuan; Yuan, Hongjie; Traynelis, Stephen F; Benke, Timothy A; Lemke, Johannes R; Krey, Ilona

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

Structural basis for channel gating and blockade in tri-heteromeric GluN1-2B-2D NMDA receptor.

三异聚体 GluN1-2B-2D NMDA 受体通道门控和阻断的结构基础

Kang Hyunook, Epstein Max, Banke Tue G, Perszyk Riley, Simorowski Noriko, Paladugu Srinu, Liotta Dennis C, Traynelis Stephen F, Furukawa Hiro

Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy

GRIN2D发育和癫痫性脑病小鼠模型中的突触功能紊乱

Teoh, JiaJie; Simko, Jane; Camp, Chad R; Liu, Christine J; Wang, Wanqi; Williams, Damian J; Ma, Liang; Soundararajan, Divyalakshmi; Martin, Caryn; Taylor, Noah K; François, Ekniel; Petri, Sabrina; Kanber, Ayla; Ravichandra, Aishwarya; Pero, Maria Elena; Bartolini, Francesca; Swayne, Theresa C; Lutz, Cathleen M; Zuberi, Aamir; Rubinstein, Moran; Hausman-Kedem, Moran; Yuan, Hongjie; Gelinas, Jennifer N; Sands, Tristan T; Harper, Scott Q; Traynelis, Stephen F; Makinson, Christopher D; Frankel, Wayne N

The thrombin receptor PAR1 orchestrates changes in lymphatic endothelial cell junction morphology to augment lymphatic drainage during lung injury

凝血酶受体PAR1通过调控淋巴管内皮细胞连接形态的变化,增强肺损伤期间的淋巴引流。

Chou Chou ,Camila Ceballos Paredes ,Barbara Summers ,Jade Palmer-Johnson ,Anjali Trivedi ,Aneel Bhagwani ,Kasper B Hansen ,Anders S Kristensen ,Stefka Gyoneva ,Sharon A Swanger ,Stephen F Traynelis ,Hasina Outtz Reed

Striatal GluN2A gene suppression reduces L-DOPA-induced abnormal involuntary movements in parkinsonian rats.

纹状体 GluN2A 基因抑制可减少帕金森病大鼠中左旋多巴诱发的异常不自主运动

Yabumoto Taiki, Kochoian Brik A, Coletta Stefano, Laur Oskar, Huang Xinping, Bure Cassandra A, Ware Christopher, Jin Peng, Traynelis Stephen F, Papa Stella M