Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome) Cell, 80 (1995), pp. 837-845 View PDFView articleView in ScopusGoogle Scholar Gibbons et al., 1997 R.J. Gibbons, S. Bachoo, D.J. Picketts, S. Aftimos, B...
27, suppressing aberrant DNA structures28, promoting faithful replication and repair29,30, maintaining proper chromatin accessibility31, and preventing RNA-DNA hybrid-based instability32. Loss of ATRX and DAXX can also be found in telomerase positive cancers, albeit with low frequency...
The function of TERRA has generated major interest in light of its association with human diseases such as cancer, aging, and ICF syndrome (Maicher et al., 2012, Azzalin and Lingner, 2015). Early observations noted that TERRA RNA is localized to the ends of nearly all mammalian chromosomes,...
(25). The timeline o Rett syndrome etiology has been at- tributed to the level o MeCP2 protein in the brain, which is low in the embryonic period and increases progressively a ter birth (25). We previously reported that ATRX and MeCP2 proteins bind the maternal allele o the H19 im...
In childhood NB, data describing immune cell infiltration are limited except in NB associated with Opsoclonus-Myoclonus syndrome [17], [56], [57]. It is assumed that the host immune response to a human solid tumor could be reflected in immune cell infiltration, and chronic local inflammation ...