gene search – Page 2 – Rett syndrome research – projects, results and publications

Clinical study of heterogeneity in a large cohort of patients with Rett syndrome using a molecular-biochemical approach.

June 16, 2021June 29, 2015 by Editorial Team

Reference: 3 Abstract: Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that has an incidence of 1:10,000 people are female. Despite the identification of three genes involved (MECP2, CDKL5 and FOXG1), the pathogenesis of the syndrome is not known to date. The study presented here aims to: deepen the existing knowledge base of … Read more

Analysis of HLA genes to assess genetic susceptibility to vaccines as part of the pathogenesis of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

Reference: na Abstract: n.a PROJECT DETAILS beginning: 2011. end: 2012. Country of research: Italy Counry of funding source: Italy Funding organization: AIRETT Financing: PRIVATE FUNDERS – 25 000 € hyperlink

Identification of causative gene(s) for familial and sporadic forms of Rett syndrome

June 16, 2021June 29, 2015 by Editorial Team

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

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

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

June 16, 2021June 29, 2015 by Editorial Team

Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more