Characterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing.

This analysis demonstrated a highly significant overlap in affected genes across the three Rett donor samples, identifying 537 genes that are consistently up-regulated in mutant- MECP2 excitatory neurons compared to wild-type neurons and 395 genes that are reproducibly down-regulated ( Fig. 4A , Supplementary Fig. 12 , Supplementary Table 15 ).

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