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Accordingly, MST1 deficient animals display a range of lymphocyte associated defects, ranging from defective lymphocyte trafficking to impaired development and function of regulatory T cells (summarised in Table 1).
A complete gene knockout has been reported to result in premature ossification and associated defects resulting in postnatal lethality [6].
Several polyQ-hHtt behavioural associated defects were analysed (foot-clasping, rotarod or body weights), and several markers were evaluated on brain sections (size of ventricles, aggregation and astrogliosis).
Future discoveries of new non-human repeat associated defects may provide the breadth of information needed to unravel the mechanisms that underpin this class of human disease.
This may be particularly useful in screening tumors for associated defects in DNA repair pathways, which can inform subsequent chemotherapy, or for identifying mutations in genes whose products are potentially drugable.
In humans the maximum tolerable dose (MTD) of IL-12 was determined to be 0.5 μg/kg body weight after intravenous administration [ 17, 18] with reversion of advanced cancer associated defects in T-lymphocytes and NK cells [ 19].
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These results indicate that the senescence-associated defects caused by LMNA mutation or WRN deficiency are cell-type-specific (Fig. 10).
DM1-associated defects are caused by sequestration of muscleblind-like 1 protein (MBNL1), an alternative splicing regulator, by expanded CUG repeats (r(CUG exp).
To explore whether LMNA mutation or WRN deficiency may cause aging-associated defects in endothelial cells (ECs), HGPS-ESCs and WS-ESCs were differentiated into HGPS-ECs and WS-ECs, respectively.
Thus far, the precise mechanism of GFP-associated defects remained unclear.
DM1-associated defects are remarkably similar to those observed in Mbnl1 knockout mice and include myotonia, ocular cataracts, histological abnormalities, and the abnormal use of specific alternative exons [9], [10].
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