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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Stem Cell Reports
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5161530/
https://ncbi.nlm.nih.gov/pubmed/27840045
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stemcr.2016.10.004
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados