Reference: ORPHA267379 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Germany Counry of funding source: Germany Funding organization: German Research Foundation Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: Abstract: Mecp2-pathies represent an emerging field among severe X-linked mental retardation syndromes. Rett Syndrome (RTT) represents the prototype of these pathologies and accounts for 10% of the cases of profound intellectual disability in females. The causative gene is the methyl CpG-binding protein 2 (MECP2) gene, encoding a multifunctional protein thought to ﾫmodulateﾫ the expression … Read more
Reference: ORPHA26075 Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: France Counry of funding source: France Funding organization: Institut de Recherde biomedacale Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more
Reference: Abstract: Rett syndrome is a leading cause of mental retardation in girls and is caused by mutations in the MECP2 gene.ﾠIn addition, changes in the MECP2 gene isolated in patients with non-specific mental retardation, autism, and severe neonatal encephalopathy are detectable.ﾠThe function of the MECP2 protein, its role in methylation and its interactions with … Read more
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