Thus, despite the absence of premature senescence, ECs bearing HGPS or WS-associated mutations demonstrated increased susceptibility to apoptosis.
The R840C mutation demonstrated increased NC-TDI's with all ligands and concentrations tested compared to wild type.
Similarly, the xprG1 gain-of-function mutation demonstrated increased protease activity CI,1.28).
In line with our findings, C. elegans hermaphrodites that are long-lived due to p53 (cep-1) mutation did not demonstrate increased resistance to oxidative (or UV) stress [ 16], however resistance to gamma irradiation was not examined.
In a recent article, Ciara et al. [ 34] indicated that heterozygous carriers of the p.I171V and c.657del5 germline mutations in NBN gene may demonstrate increased risk of childhood medulloblastoma.
Fc domains exhibiting decreased fucosylation, by comparison, enhance binding only to CD16A [ 39, 41], and other mutations reported to increase binding to activating receptors also demonstrate increased binding to CD32B but to different extents, depending on the mutations [ 37, 38].
In contrast to that, Clock −/− mice did not demonstrate increased weight; thus, Clock mutation and deficiency have different effects on weight accumulation in mice.
Stimulated macrophages isolated from patients demonstrate increased IL-1β release, suggesting that mutations result in increased activation of caspase-1.
Capulet is thought to function by inhibiting inappropriate actin polymerization within cells as demonstrated by mutations in Drosophila, whether in epithelial cells [30] or eye cells [20] that demonstrate increased F-actin in loss of function capt mutant cells.
In contrast, a similar study of 221 Korean familial breast cancer patients [ 44] identified 81 deleterious mutation carriers, and demonstrated increased TN phenotype for BRCA1 mutation carriers (P <0.00001,57%, n = 35), but not BRCA2 mutation carriers (P =0.9, 13.9%, n = 36) compared with non-carriers (13%, n = 130).
