Cargando…
Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
BACKGROUND: Fragile X syndrome (FXS) is a common form of inherited intellectual disability caused by an expansion of CGG repeats located in the 5(′) untranslated region (UTR) of the FMR1 gene, which leads to hypermethylation and silencing of this locus. Although a dramatic increase in DNA methylatio...
Autores principales: | Alisch, Reid S, Wang, Tao, Chopra, Pankaj, Visootsak, Jeannie, Conneely, Karen N, Warren, Stephen T |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3599197/ https://www.ncbi.nlm.nih.gov/pubmed/23356558 http://dx.doi.org/10.1186/1471-2350-14-18 |
Ejemplares similares
-
Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome
por: Xie, Nina, et al.
Publicado: (2016) -
Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders
por: Usdin, Karen, et al.
Publicado: (2014) -
A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome
por: Anderson, Tovi, et al.
Publicado: (2013) -
Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective
por: Lee, Anna W., et al.
Publicado: (2018) -
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
por: Nobile, Veronica, et al.
Publicado: (2021)