Reference: ISS-NIH 5301/530H Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy, US Counry of funding source: United States Funding organization: Bilateral Italy (ISS)ﾗUSA (NIH, Office for rare diseases) Financing: NATIONAL FUNDINGS – 0 € hyperlink
Reference: Abstract: Rett syndrome (RTT) is a neurological disorder and a leading cause of mental retardation in females. It is caused by mutations in methyl-CpG-binding protein 2 (MeCP2) gene and more rarely in cyclin-dependent kinase-like 5 (CDKL5) and forkhead box protein G1 (FOXG1) genes. Increased oxidative stress (OS) has been documented in MeCP2-RTT patients. Here, … Read more
Reference: RES-145-28-1003 Abstract: PROJECT DETAILS beginning: n.a end: n.a 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
Reference: RES-145-28-1003 Abstract: INTRODUCTION: MECP2 mutations are identifiable in ~80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. METHODS: We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis but in whom an MECP2 mutation was not identifiable. Dosage analysis of MECP2 … Read more
Reference: B03 – Subproject to SFB 992: Medical Epigenetics (MEDEP) From basic mechanisms to clinical applications Abstract: The methyl-CpG-binding protein 2 (MeCP2) detects symmetrically methylated cytosine-guanine sequences (CpG) in the genomic DNA and modulate gene expression by recruiting coactivator and corepressor-proteins.ﾠWe found that MeCP2 is significantly downregulated in hypertrophic and failing heart.ﾠThe functional significance of … Read more
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