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
Reference: BB/L00139X/1 Abstract: The human brain, like other organs, is affected by ageing. This can lead to reduced concentration, forgetfulness, and confusion when confronted with novel or unexpected situations. In more severe cases this puts the person at risk of harm and jeopardises independent living, placing heavy burdens on families and society. There is therefore … 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
Reference: ANRn.a.8-MNPSn.a.007 Abstract: Psychotic disorders (schizophrenia, bipolar disorder, pervasive developmental disorders) are disabling disorders of variable clinical expression ?, ?d resulting interaction between genetic and environmental factors during critical periods of brain development. Some candidate genes have been identified . Among them, neuregulin, RGS4, DISC1, reelin, BDNF and glutamatergic receptors are involved in the formation … Read more
Reference: 864.03.002 Abstract: One of the most profound and intriguing questions in biology concerns the relationship between genetic diversity and the morphology and biology of different species. The key to understanding this relationship will be found in uncovering the contribution of gene family members to the development of organisms. In recent years it has become … Read more
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