Early onset seizures and Rett-like features associated with mutations in CDKL5

Reference: RES-145-28-1003 Abstract: Mutations in theᅠCDKL5ᅠgene (also known as STK9) have recently been shown to cause early onset epilepsy and severe mental retardation (ISSX or West syndrome). Patients withᅠCDKL5ᅠmutations sometimes also show features similar to those seen in Rett Syndrome (RTT). We have screened theᅠCDKL5ᅠgene in 94 patients with RTT or a RTT-like phenotype who … Read more

Epigenetic dysfunction of MeCP2 in chronic heart failure (B03)

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

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