Epigenetic modifications in human fragile X pluripotent stem cells; Implications in fragile X syndrome modeling
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DOI: 10.1016/j.brainres.2015.10.004
Abstract: Patients with fragile X syndrome (FXS) exhibit moderate to severe intellectual disabilities. In addition, one-third of FXS patients show characteristics of autism spectrum disorder. FXS is caused by a trinucleotide repeat expansion, which leads to… read more here.
Keywords: fmr1 gene; fragile syndrome; pluripotent stem; gene ... See more keywords
Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?
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DOI: 10.3389/fgene.2017.00158
Abstract: Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range… read more here.
Keywords: diagnosis; prenatal diagnosis; cgg; size ... See more keywords
DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome
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DOI: 10.3390/biom11020296
Abstract: Among the inherited causes of intellectual disability and autism, Fragile X syndrome (FXS) is the most frequent form, for which there is currently no cure. In most FXS patients, the FMR1 gene is epigenetically inactivated… read more here.
Keywords: fragile syndrome; mechanisms fmr1; methylation mechanisms; fmr1 gene ... See more keywords