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Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine

In fragile X syndrome, hypermethylation of the expanded CGG repeat and of the upstream promoter leads to transcriptional silencing of the FMR1 gene. Absence of the FMR1 protein results in mental retardation. We previously proved that treatment with 5-azadeoxycytidine (5-azadC) of fragile X cell line...

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Autors principals: Pietrobono, Roberta, Pomponi, Maria Grazia, Tabolacci, Elisabetta, Oostra, Ben, Chiurazzi, Pietro, Neri, Giovanni
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2002
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC135754/
https://ncbi.nlm.nih.gov/pubmed/12136110
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