Editorial Team

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

Cell line and DNA bank of Rett syndrome and other x-linked mental retardation

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Reference: GTF02006 Abstract: Mental retardation (MR) is the most frequent cause of serious handicap in humans with an estimated total prevalence of 1-1,5% in the general population. It is calculated that X-linked MR (XLMR) may account for about 20-25% of mentally retarded males. Up to now, 42 genes have been found involved in XLMR, comprising … Read more

Autism and Rett syndrome complex: molecular bases of complex disorders

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Reference: GGP02372 Abstract: Autism (A) and A related disorders (ALD)include an heterogeneous group of conditions of almost unknown etiology. In fact, only in 10-25% of cases it is possible to recognize a specific cause, be it genetic or enviromental. Many different studies have pointed to a genetic component in A, indicating that several genes interact … Read more

Identification and characterization of proteins that, interacting with mecp2, could be involved in Rett syndrome

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Reference: GP0072Y01 Abstract: Rett syndrome (RTT) is a genetic disease that occurs almost exclusively in females, with an estimated prevalence of 1 in 10.000-15.000 female births. After normal development up to the age of 6-18 months, follows a period of regression of motor and mental abilities. Affected patients develop loss of speech and purposeful hand … Read more

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

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