Article
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.
PloS one - 1 Jan 2011
Sheridan Steven D, Theriault Kraig M, Reis Surya A, Zhou Fen, Madison Jon M, Daheron Laurence, Loring Jeanne F, Haggarty Stephen J
Abstract excerpt
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors. FXS is caused by an expanded CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation (FMR1) gene leading to epigenetic silencing and loss...
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