gene expression profile

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

Neurobiology of Rett’s syndrome: cellular etiology and experimental therapeutic strategies in an animal model

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Reference: GGP05236 Abstract: Rett syndrome is a major cause of mental retardation, second only to the incidence of Down syndrome, and occurs almost exclusively in females. This disease manifests itself after a period of apparently normal development and causes growth retardation, severe psychomotor and autistic-like behaviors . The majority of cases of Rett syndrome is … Read more

Congenital Rett syndrome: cellular and mouse models for the study of foxg1 impact on forebrain neurogenesis

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Reference: GGP09117 Abstract: Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. Mutations in the MECP2 gene have long represented the only known cause of Rett. Recently, we demonstrated that mutations in a different gene, FOXG1, are responsible for the most severe form of … Read more

Identification of neuronal substrates of Rett syndrome and validation of therapies in preclinical models: a genomic, morphofunctional, and behavioural analysis in mouse models and patients

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Reference: GGP09196 Abstract: Rett syndrome is a leading cause of mental retardation, second only to Down syndrome, which affects almost exclusively girls. This disease becomes manifest after a period of apparently normal development and causes growth retardation, severe psychomotor impairment and autistic behaviour. The majority of cases of Rett syndrome are caused by mutations in … Read more

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