The impact of MECP2 mutations in the expression patterns of Rett syndrome patients

Rett syndrome (RTT), the second most common cause of mental retardation in females, has been associated with mutations in MeCP2, the archetypical member of the methyl-CpG binding domain (MBD) family of proteins. MeCP2 additionally possesses a transcriptional repression domain (TRD). We have compared...

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Veröffentlicht in:	Human genetics 2005, Vol.116 (1-2), p.91-104
Hauptverfasser:	BALLESTAR, Esteban, ROPERO, Santiago, MONROS, Eugenia, ESTELLER, Manel, ALAMINOS, Miguel, ARMSTRONG, Judith, SETIEN, Fernando, AGRELO, Ruben, FRAGA, Mario F, HERRANZ, Michel, AVILA, Sonia, PINEDA, Mercedes
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Blotting, Western Cancer Chromosomal Proteins, Non-Histone - genetics Chromosomal Proteins, Non-Histone - metabolism Classical genetics, quantitative genetics, hybrids Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DNA Methylation DNA-Binding Proteins - genetics DNA-Binding Proteins - metabolism Epigenetics Fundamental and applied biological sciences. Psychology Gene expression Gene Expression Profiling Gene Expression Regulation - physiology Genetics of eukaryotes. Biological and molecular evolution Human Humans Medical sciences Methyl-CpG-Binding Protein 2 Mutation Neurology Repressor Proteins - genetics Repressor Proteins - metabolism Rett Syndrome - genetics Rett Syndrome - metabolism
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