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

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

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

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

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

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

n.a

Reference: Nicoletta Landsberger Abstract: n.a PROJECT DETAILS  beginning: 2012. end: 2012. Country of research: Italy Counry of funding source: Italy Funding organization: Associazione Italiana per la Ricerca sul Cancro, AIRC Investigator Grant Financing: PRIVATE FUNDERS – 40 000 € hyperlink

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