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with that of the general population. Expression and activity analyses of ATM in heterozygous cell lines indicated that both mutations are dominant negative . Conclusion: At least two ATM mutations are associated ...
and 10 amino acids, respectively. (D) mRNA expression of alternative splicing variants of PPM1D in cultured cells. RT–PCR was performed using specific primers for each PPM1D variant and a GAPDH control. (E ...
skipping, shortening, or the inclusion of intronic material. Experimental studies have shown that this splice -site variant completely abolishes SPINK1 mRNA and protein expression in cell culture. Furthermore ...
). In the human genome, MDM4 is encoded at chromosome 1q32.1 and is comprised of 11 exons that are expressed as a number of isoforms (elaborated in Section ‘MDM4 isoform splicing ’). Four key domains are conserved ...
mCherry-NLS and PPM1D605( wild -type (WT)) or PPM1D605(D314A) linked by a 2 A self-processing peptide. PPM1D(DA) is a phosphatase-dead mutant and exhibits a dominant negative effect on endogenous PPM1D ...
. Furthermore, while the tumor cells expressing Akt were negative for the oligodendrocyte marker Olig2, tumor cells lacking Akt were positive for Olig2. These data suggest that Akt is required for glioblastoma ...
-type p53 protein expressed from the wild -type p53 mRNA or from the L22L mRNA in p53-null H1299 in the absence and presence of MDM2 under normal conditions (DMSO) or DNA damage induced by 0.1 mM ...
, Haneda M , Morimoto C . Transcriptional up-regulation of inhibitory PAS domain protein gene expression by hypoxia-inducible factor 1 (HIF-1): a negative feedback regulatory circuit in HIF-1-mediated ...
the utility of the salivary stressome, the profiling of methylation, gene expression and protein products, to identify molecular pathways that underlie the lasting negative impacts of early life stress. Saliva ...
the cell cycle in G2/M, we found that overexpression of wild type, S473A and S473E KAP1 increased levels of H3K9me3 (Figure 3A, left panel), although with a stronger effect for the phospho-mimetic mutant ...
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