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Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

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Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

Chromatin diseases: from basic mechanisms to therapy

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Reference: 238242 Abstract: The scope of this ITN is to promote research and training in the field of chromatin diseases. Chromatin diseases (CD) are genetic pathologies resulting from mutations in structural components of chromatin or in enzymes that biochemically modify chromatin, altering chromatin status and thereby causing drastic effects on gene expression. CD frequency ranges … 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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