n.a

Epigenetic dysfunction of MeCP2 in chronic heart failure (B03)

by

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

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome

by

Reference: RES-145-28n.a.003 Abstract: We aimed to improve the understanding of genotypeﾖphenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions ﾖ separating typicality of presentation, outcome severity and age of onset ﾖ and by classifyingﾠMECP2ﾠmutations strictly by predicted functional attributes.ﾠMECP2ﾠmutation screening results were available on 190 patients with a clinical … Read more

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

by

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

Creating conditions : the making and re-making of a genetic syndrome

by

Reference: RES-145-28-1003 Abstract: Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of … Read more

By continuing to use the site, you agree to the use of cookies. more information

The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.

Close