gene expression profile

Molecular pathologies and functional interactions of the X-linked MECP2 and CDKL5 genes

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Reference: Charlotte Kilstrup-Nielsen Abstract: Rett syndrome (RTT) is a severe pediatric neurological disorder that, because of its incidence, represents the most common genetic cause of severe intellectual disability in girls worldwide. Several RTT variants have been described ranging from milder forms with a later age of onset to conditions with very early severe epileptic manifestations. … Read more

The contribution of histone deacetylases to the emergence of rett syndrome investigated by in vitro and in vivo mouse model systems

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Reference: Lagger, Sabine Abstract: n.a PROJECT DETAILS  beginning: 2011. end: 2013. Country of research: United Kingdom Counry of funding source: Germany Funding organization: EMBO Long Term fellowship Financing: PRIVATE FUNDERS – 34 079 € hyperlink

Second human pseudoautosomal region: biology, genes and implications for the pathogenesis of Rett syndrome

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Reference: E.0869 Abstract: Our interest is to clarify the biology of the second human pseudoautosomal region, located at the end of long arm of the X chromosome and its involvment in genetic pathologies. Genes located in this region show different transcriptional behaviour, escaping or not the X inactivation. Such effects could be likely caused by … Read more

Molecular dissection of two human chromatin diseases, Rett syndrome and icf syndrome

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Reference: GGP02308 Abstract: Failure of correct gene expression underlies many human genetic disorders. In monogenic disorders, altered expression of a single gene can result from loss of the gene and/or modification of regulative control of gene expression. A class of monogenic disorders presents mutations of factors which mediate gene regulation, that can regulate more target … Read more

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