Editorial Team – Page 37 – Rett syndrome research – projects, results and publications

Increased levels of 4HNE-protein plasma adducts in Rett syndrome.

June 16, 2021June 29, 2015 by Editorial Team

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

In vivo reduced spine motility in a model of Rett syndrome, the MecP2 null mouse

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: PROJECT DETAILS beginning: n.a end: n.a Country of research: Italy Counry of funding source: Italy Funding organization: National Research Council Financing: NATIONAL FUNDINGS – 0 € hyperlink

Identifying Early Signs of Rett Syndrome and their Implications for Development

June 16, 2021June 29, 2015 by Editorial Team

Reference: R000238229 Abstract: Rett syndrome is a developmental disorder, almost exclusively affecting girls, which goes undetected in early infancy until a dramatic regression in development around 9-12 months. Although Rett syndrome is present from birth early signs of the disorder are difficult to detect. Family home videos, taken before the childﾒs problems were recognised, offer … Read more

Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

June 16, 2021June 29, 2015 by Editorial Team

Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … Read more

Identification of genes for X-linked intellectual disability

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Functional studies of CDKL5 implicated in an X-linked intellectual disability syndrome with early onset epileptic encelopathy. We have shown that mutations in the X-linked gene CDKL5/STK9 are a significant cause of a severe neurodevelopmental disorder (previously called atypical Rett syndrome (RTT) or variant of RTT), which affects predominantly girls (Kalscheuer et al, Am … Read more