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

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Nr2f1 enhancers have distinct functions in controlling Nr2f1 expression during cortical development

Nr2f1增强子在皮层发育过程中对Nr2f1表达的调控具有不同的功能。

Liu, Zhidong; Ypsilanti, Athéna R; Markenscoff-Papadimitriou, Eirene; Dickel, Diane E; Sanders, Stephan J; Dong, Shan; Pennacchio, Len A; Visel, Axel; Rubenstein, John L

DLX genes and proteins in mammalian forebrain development

DLX基因和蛋白质在哺乳动物前脑发育中的作用

Rubenstein, John L; Nord, Alex S; Ekker, Marc

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

非编码剪接体snRNA基因RNU4-2的新生变异是综合征性神经发育障碍的常见病因。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Stenton, Sarah L; Walker, Susan; Ljungdahl, Alicia; Lord, Jenny; Ganesh, Vijay S; Ma, Jialan; Martin-Geary, Alexandra C; Lemire, Gabrielle; D'Souza, Elston N; Dong, Shan; Ellingford, Jamie M; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Evans, Carey-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Grant, Christina L; Haack, Tobias; Kuechler, Alma; Lalani, Seema R; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Maurer, Taylor M; Mendez, Hector R; Montgomery, Stephen B; Nassogne, Marie-Cécile; Neumann, Serena; O'Leary, Melanie; Palmer, Elizabeth E; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; Clair, Laura; Stark, Zornitza; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna El; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna Mm; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

Trans-Seq maps a selective mammalian retinotectal synapse instructed by Nephronectin.

Trans-Seq 绘制了由肾连接蛋白指导的选择性哺乳动物视网膜-顶盖突触图谱

Tsai Nicole Y, Wang Fei, Toma Kenichi, Yin Chen, Takatoh Jun, Pai Emily L, Wu Kongyan, Matcham Angela C, Yin Luping, Dang Eric J, Marciano Denise K, Rubenstein John L, Wang Fan, Ullian Erik M, Duan Xin

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain

人类和小鼠脑中电压门控钠通道亚型表达的发育动态

Liang, Lindsay; Fazel Darbandi, Siavash; Pochareddy, Sirisha; Gulden, Forrest O; Gilson, Michael C; Sheppard, Brooke K; Sahagun, Atehsa; An, Joon-Yong; Werling, Donna M; Rubenstein, John L R; Sestan, Nenad; Bender, Kevin J; Sanders, Stephan J

Transcriptional network orchestrating regional patterning of cortical progenitors

转录网络调控皮层祖细胞的区域模式

Ypsilanti, Athéna R; Pattabiraman, Kartik; Catta-Preta, Rinaldo; Golonzhka, Olga; Lindtner, Susan; Tang, Ke; Jones, Ian R; Abnousi, Armen; Juric, Ivan; Hu, Ming; Shen, Yin; Dickel, Diane E; Visel, Axel; Pennachio, Len A; Hawrylycz, Michael; Thompson, Carol L; Zeng, Hongkui; Barozzi, Iros; Nord, Alex S; Rubenstein, John L

Cracking the Codes of Cortical Glial Progenitors: Evidence for the Common Lineage of Astrocytes and Oligodendrocytes

破解皮质胶质祖细胞的密码:星形胶质细胞和少突胶质细胞共同谱系的证据

Huang, Hao; Rubenstein, John L; Qiu, Mengsheng

Optimizing Nervous System-Specific Gene Targeting with Cre Driver Lines: Prevalence of Germline Recombination and Influencing Factors

利用 Cre 驱动系优化神经系统特异性基因靶向:种系重组的普遍性及其影响因素

Luo, Lin; Ambrozkiewicz, Mateusz C; Benseler, Fritz; Chen, Cui; Dumontier, Emilie; Falkner, Susanne; Furlanis, Elisabetta; Gomez, Andrea M; Hoshina, Naosuke; Huang, Wei-Hsiang; Hutchison, Mary Anne; Itoh-Maruoka, Yu; Lavery, Laura A; Li, Wei; Maruo, Tomohiko; Motohashi, Junko; Pai, Emily Ling-Lin; Pelkey, Kenneth A; Pereira, Ariane; Philips, Thomas; Sinclair, Jennifer L; Stogsdill, Jeff A; Traunmüller, Lisa; Wang, Jiexin; Wortel, Joke; You, Wenjia; Abumaria, Nashat; Beier, Kevin T; Brose, Nils; Burgess, Harold A; Cepko, Constance L; Cloutier, Jean-François; Eroglu, Cagla; Goebbels, Sandra; Kaeser, Pascal S; Kay, Jeremy N; Lu, Wei; Luo, Liqun; Mandai, Kenji; McBain, Chris J; Nave, Klaus-Armin; Prado, Marco A M; Prado, Vania F; Rothstein, Jeffrey; Rubenstein, John L R; Saher, Gesine; Sakimura, Kenji; Sanes, Joshua R; Scheiffele, Peter; Takai, Yoshimi; Umemori, Hisashi; Verhage, Matthijs; Yuzaki, Michisuke; Zoghbi, Huda Yahya; Kawabe, Hiroshi; Craig, Ann Marie

Interneuron Transplantation Rescues Social Behavior Deficits without Restoring Wild-Type Physiology in a Mouse Model of Autism with Excessive Synaptic Inhibition

在突触抑制过度的自闭症小鼠模型中,中间神经元移植可以挽救社交行为缺陷,但无法恢复野生型生理功能。

Southwell, Derek G; Seifikar, Helia; Malik, Ruchi; Lavi, Karen; Vogt, Daniel; Rubenstein, John L; Sohal, Vikaas S