CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations

In fragile X syndrome (FXS), CGG repeat expansion greater than 200 triplets is believed to trigger FMR1 gene silencing and disease etiology. However, FXS siblings have been identified with more than 200 CGGs, termed unmethylated full mutation (UFM) carriers, without gene silencing and disease sympto...

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Detalles Bibliográficos
Autores principales: Brykczynska, Urszula, Pecho-Vrieseling, Eline, Thiemeyer, Anke, Klein, Jessica, Fruh, Isabelle, Doll, Thierry, Manneville, Carole, Fuchs, Sascha, Iazeolla, Mariavittoria, Beibel, Martin, Roma, Guglielmo, Naumann, Ulrike, Kelley, Nicholas, Oakeley, Edward J., Mueller, Matthias, Gomez-Mancilla, Baltazar, Bühler, Marc, Tabolacci, Elisabetta, Chiurazzi, Pietro, Neri, Giovanni, Bouwmeester, Tewis, Di Giorgio, Francesco Paolo, Fodor, Barna D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161530/
https://www.ncbi.nlm.nih.gov/pubmed/27840045
http://dx.doi.org/10.1016/j.stemcr.2016.10.004

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