16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

por Maria Sundberg, Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J. C. Tai, James F. Gusella, Michael E. Talkowski, Christopher A. Walsh, Max Tegmark, Mustafa Sahin
Publicado 2021

Copy number variation in familial Parkinson disease.

por Nathan Pankratz, Alexandra Dumitriu, Kurt N Hetrick, Mei Sun, Jeanne C Latourelle, Jemma B Wilk, Cheryl Halter, Kimberly F Doheny, James F Gusella, William C Nichols, Richard H Myers, Tatiana Foroud, Anita L DeStefano, PSG-PROGENI and GenePD Investigators, Coordinators and Molecular Genetic Laboratories
Publicado 2011

Brigatinib causes tumor shrinkage in both NF2-deficient meningioma and schwannoma through inhibition of multiple tyrosine kinases but not ALK.

por Long-Sheng Chang, Janet L Oblinger, Abbi E Smith, Marc Ferrer, Steven P Angus, Eric Hawley, Alejandra M Petrilli, Roberta L Beauchamp, Lars Björn Riecken, Serkan Erdin, Ming Poi, Jie Huang, Waylan K Bessler, Xiaohu Zhang, Rajarshi Guha, Craig Thomas, Sarah S Burns, Thomas S K Gilbert, Li Jiang, Xiaohong Li, Qingbo Lu, Jin Yuan, Yongzheng He, Shelley A H Dixon, Andrea Masters, David R Jones, Charles W Yates, Stephen J Haggarty, Salvatore La Rosa, D Bradley Welling, Anat O Stemmer-Rachamimov, Scott R Plotkin, James F Gusella, Justin Guinney, Helen Morrison, Vijaya Ramesh, Cristina Fernandez-Valle, Gary L Johnson, Jaishri O Blakeley, D Wade Clapp, Synodos for NF2 Consortium
Publicado 2021