The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual
disability in all human societies. Caused by the transcriptional silencing of a single gene, the …

Over 20 unstable microsatellite repeats have been identified as the cause of neurological
disease in humans. The repeat nucleotide sequences, their location within the genes, the …

Neurodevelopmental disorders can be caused by mutations in neuronal genes fundamental
to brain development. These disorders have severe symptoms ranging from intellectually …

The expression of genes in transgenic mice is known to be influenced by the site of
integration even when they carry their own promoter elements and transcription factor …

The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is
essential in order to understand the pathogenesis of many genetic diseases such as fragile …

The expansion of CGG repeats in the 5′-untranslated region (5′ UTR) of FMR1 gene is
the molecular basis of fragile X syndrome in most of the patients. The nature of the flanking …

The epigenetic mechanisms regulating developmental gene expression are examples of a
strategy to generate unique expression profiles with global regulators controlling several …

Background: Our understanding of fragile X syndrome can be improved by reversing the
expression of the silenced fragile X mental retardation 1 (FMR1) gene in immortalized cells …

Since the generation of the first transgenic animal by Gordan and Ruddle, several methods
and procedures have been developed for the manipulation of the genome. This chapter …

В ряде случаев цитологически регистрируемая нестабильность центромерной
сателлитной ДНК приводит к появлению у человека некоторых наследственных …