2006. – Page 4 – Rett syndrome research – projects, results and publications

Multiannual Programme for Research on Rare Diseases (MRAR) (MRAR) 2006 projectﾠRett therapy -Therapeutic approaches of Rett syndrome: development of human cell models and high-throughput screening of chemical molecules in order to identify new subtsances likely to induce readthrough of a stop codon

June 16, 2021June 29, 2015 by Editorial Team

Reference: ANRn.a.6-MRARn.a.003 Abstract: Rett syndrome (RTT) is a neurodevelopmentale dominant X-linked disease affecting almost exclusively girls.ﾠSignificant progress was the discovery of mutations in the MECP2 gene in over 90% of RTT patients.ﾠIn recent years, we have developed a French consortium and determined the spectrum of mutations MECP2.ﾠWe have shown that the four most common MECP2 … Read more

Molecular biologickáanalýza MECP2 gene in patients with Rettovýmsyndromem

June 16, 2021June 29, 2015 by Editorial Team

Reference: 301/01/P068 Abstract: ProjektGA CR 301/01/P068 focused on molecular-biological analysis MeCP2genu. Its defect leads to clinical manifestations of Rett syndrome (RS) (OMIM312750), which is the second most common cause of mental retardation dívek.Dědičnost RS gonosomal dominant with incidence approximately 1 to 000 10000-15; vast majority of mutations created de novo. MECP2 gene, described in 1999, … Read more

ESRC Centre for Economic and Social Aspects of Genomics (CESAGen)

June 16, 2021June 29, 2015 by Editorial Team

Reference: RES-145-28-1003 Abstract: PROJECT DETAILS beginning: 2002. end: 2006. Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink

Functional characterization of proteins MECP2 and ACSL4 “as part of the project” post-genomic strategies for the study and prevention of X-linked mental retardation

June 16, 2021June 29, 2015 by Editorial Team

Reference: neri Abstract: n.a PROJECT DETAILS beginning: 2006. end: 2007. Country of research: Italy Counry of funding source: Italy Funding organization: PRIN projects Ministry of Education, Universities and Research MIUR Financing: NATIONAL FUNDINGS – 51 510 € hyperlink

From Synaptopathies to System Dysfunction

June 16, 2021June 29, 2015 by Editorial Team

Reference: Subproject to FZT 103 Abstract: This area of ??research focuses on genetic diseases that result in defects of synapse formation and function, which cause motor and cognitive deficits in Rett syndrome and as the associate autism.ﾠCause of Rett syndrome are encoded spontaneous mutations in X-linked MECP2 gene, the transcriptional regulator methyl-CpG binding protein 2 … Read more