Environmental enrichment and cognitive function across the lifespan

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

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

Epigenetics of chronic heart failure

Reference: Abstract: The focus of this project are epigenetic mechanisms that underlie the remodeling in the heart in the emergence of hypertrophy and failure and recovery after mechanical unloading.ᅠIn the foreground is the methyl-DNA-binding protein 2 (MeCP2), which specifically recognizes methylated DNA sequences, and thus can modulate gene expression.ᅠIn the continuation phase of this project, … Read more

Genetic counselling for Rett syndrome

Reference: RES-145-28-1003 Abstract: PROJECT DETAILS  beginning: n.a end: n.a Country of research: United Kingdom Counry of funding source: United Kingdom Funding organization: Economic and Social Research Council Shaping Society Financing: NATIONAL FUNDINGS – 0 € hyperlink

Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system.

Reference: 73430 Abstract: The study design is the natural extension of our previous research works that had already been supported (www.humangenom.hu, www.eurosca.org). It is clear nowadays, that the functions of the carnitine are not restricted to the role of the oxidation of the long-chain fatty acids. The main direction of the planned research is the … Read more

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