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

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

Premedical Education Experiences of First-Generation College Graduates

第一代大学毕业生接受医学预科教育的经历

Eggan, Branden; Mason, Hyacinth R C; Chakraverty, Devasmita; Diaz, Jacqueline M; Rivera, Valerie; L'Etoile, Hannah; Ascencio, Brandon; Havemann, Catherine; Russell, Regina G; Wyatt, Tasha R; Boatright, Dowin; Nguyen, Mytien

Domain coupling in allosteric regulation of SthK measured using time-resolved transition metal ion FRET

利用时间分辨过渡金属离子荧光共振能量转移(FRET)技术测定SthK变构调节中的结构域耦合。

Eggan, Pierce; Gordon, Sharona E; Zagotta, William N

C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7.

C9ORF72 poly-PR 通过 SRSF7 破坏 ALS/FTD 相关 STMN2 的表达

Wang Karen S, Smeyers Julie, Eggan Kevin, Budnik Bogdan, Mordes Daniel A

Domain Coupling in Allosteric Regulation of SthK Measured Using Time-Resolved Transition Metal Ion FRET

利用时间分辨过渡金属离子荧光共振能量转移技术测量SthK变构调节中的结构域耦合

Eggan, Pierce; Gordon, Sharona E; Zagotta, William N

Dynamic changes in chromosome and nuclear architecture during maturation of normal and ALS C9orf72 motor neurons

正常运动神经元和ALS C9orf72运动神经元成熟过程中染色体和核结构的动态变化

Uyan, Özgün; Sambare, Snehal; Oomen, Marlies E; Wightman, Nicholas; Schooley, Allana; Klim, Joseph R; Belaghzal, Houda; Aydemir, Özkan; Akgol-Oksuz, Betul; Uslu, Zeynep Sena Agim; Eggan, Kevin; Brown, Robert H Jr; Dekker, Job

Single-nucleus sequencing reveals enriched expression of genetic risk factors in extratelencephalic neurons sensitive to degeneration in ALS

单核测序揭示了对 ALS 退化敏感的端脑神经元中遗传风险因子的丰富表达

Francesco Limone #, Daniel A Mordes #, Alexander Couto, Brian J Joseph, Jana M Mitchell, Martine Therrien, Sulagna Dia Ghosh, Daniel Meyer, Yingying Zhang, Melissa Goldman, Laura Bortolin, Inma Cobos, Beth Stevens, Steven A McCarroll, Irena Kadiu, Aaron Burberry, Olli Pietiläinen, Kevin Eggan

Myeloid and lymphoid expression of C9orf72 regulates IL-17A signaling in mice

C9orf72 的髓系和淋巴系表达调节小鼠的 IL-17A 信号传导

Francesco Limone, Alexander Couto, Jin-Yuan Wang, Yingying Zhang, Blake McCourt, Cerianne Huang, Adina Minkin, Marghi Jani, Sarah McNeer, James Keaney, Gaëlle Gillet, Rodrigo Lopez Gonzalez, Wendy A Goodman, Irena Kadiu, Kevin Eggan, Aaron Burberry

High-dimensional phenotyping to define the genetic basis of cellular morphology

高维表型分析确定细胞形态的遗传基础

Matthew Tegtmeyer #, Jatin Arora #, Samira Asgari #, Beth A Cimini, Ajay Nadig, Emily Peirent, Dhara Liyanage, Gregory P Way, Erin Weisbart, Aparna Nathan, Tiffany Amariuta, Kevin Eggan, Marzieh Haghighi, Steven A McCarroll, Luke O'Connor, Anne E Carpenter, Shantanu Singh, Ralda Nehme, Soumya Raycha

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

CACHD1基因的双等位基因功能缺失变异会导致一种新型神经发育综合征,伴有面部畸形和多系统先天性异常。

Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E; Wells, Michael F