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Example sentences for: rett

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Expression levels in brain increase postnatally [ 16 ] . These findings explain why the most prominent clinical features of Rett syndrome are related to central nervous system (CNS) dysfunction.
To identify potential downstream targets of MeCP2 modulation, we have compared global gene expression patterns in four matched pairs of clonally derived mutant or wild-type MECP2-expressing fibroblast cell strains from girls with Rett syndrome, and in five wild-type and four mutant MeCP2-expressing lymphoblastoid cell lines, by hybridizing Affymetrix U95 (A-E) oligonucleotide microarrays.
Clonal mutant and wild-type MECP2 expressing fibroblast cell strains were successfully established from four Rett females with different mutations, one missense in the MBD, one missense in the TRD and two frameshift mutations leading to premature stop codons.
A total of 252,700 comparisons (four Rett females × 63,175 interrogations on five GeneChips ®) revealed 6,745 increased (or marginally increased) genes/ESTs and 6,966 decreased (or marginally decreased) genes/ESTs.
Three genes with increased expression in mutant clones (MTAP44, MMP3 and NTN4) and two with decreased expression (CRIP1 and COMP) were quantitatively tested in multiple clonal cell strains from two Rett females (with MECP2 mutations 1155del32 and R106W) using RT-PCR.