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Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

An increasing number of genetic variants have been implicated in autism spectrum disorders (ASD), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non...

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Detalles Bibliográficos
Autores principales: Griesi-Oliveira, Karina, Acab, Allan, Gupta, Abha R., Sunaga, Daniele Yumi, Chailangkarn, Thanathom, Nicol, Xavier, Nunez, Yanelli, Walker, Michael F., Murdoch, John D., Sanders, Stephan J., Fernandez, Thomas V., Ji, Weizhen, Lifton, Richard P., Vadasz, Estevão, Dietrich, Alexander, Pradhan, Dennis, Song, Hongjun, Ming, Guo-li, Guoe, Xiang, Haddad, Gabriel, Marchetto, Maria C. N., Spitzer, Nicholas, Passos-Bueno, Maria Rita, State, Matthew W., Muotri, Alysson R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427554/
https://www.ncbi.nlm.nih.gov/pubmed/25385366
http://dx.doi.org/10.1038/mp.2014.141