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

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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

GEUVADIS Genetic European Variation in Health and Disease, A European Medical Sequencing Consortium

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Reference: 261123 Abstract: We are committed to gaining insights into the human genome and its role in health and medicine by sharing data, experience and expertise in high-throughput sequencing. The purpose of this website is to keep you up to date with the project, and to help you find accessible information about genomics and personalised … Read more

Genetic and Epigenetic Networks in Cognitive Dysfunction

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Reference: 241995 Abstract: Mutations in about 400 different genes have been associated with Cognitive Disorders (CD), such as mental retardation, autism, neurodegenerative disorders, and psychiatric disorders. Whereas CD impose a major medical and socio-economical problem, there are no systematic studies that aim to provide insight into common mechanisms in CD. We propose a systems biology … Read more

Characterization of mecp2 function in rett syndrome

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Reference: QLK2-CT-2002-51761 Abstract: Ret Syndrome, an important cause of mental retardation in women, is associated with mutations in the gene encoding methyl- Cog binding protein. The aim of this project is to identify target genes whose expression is altered as a result of Mapco mutations. PROJECT DETAILS  beginning: 2003. end: 2005. Country of research: Spain … Read more

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