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Our results on gene expression support a defect in cellular immunity on the basis of the poor control of the virus in this group.
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Moreover, we observed alterations of the lysosomal membrane glycoproteins lysosome-associated membrane protein 1 (Land1) and LAMP2 as a consequence of TRAPPC11 dysfunction supporting a defect in the transport of secretory proteins as the underlying pathomechanism.
These data were in agreement with the triglyceride measurements (Fig. 4A), and supported a defect in the catabolism of fatty acids in the fasted CoA-deficient livers.
Thus, in spite of the reported expression of GPR126 in endothelial cell cultures we could not detect expression of GPR126 in endothelia in vivo, and were not able to find evidence supporting a defect of vascular development as the cause of embryonic lethality.
Indeed, a similar reduction of CD4 SP thymocytes was also seen in DO11.10.c-FLIPL DO11.10.c-FLIPLTgng a defect in positive selection in these mice.
The search for a general mechanism such as autophagy supporting a defect in the response to mTOR inhibition therefore prompted us to use these two cell lines to evaluate in vivo the effects of rapamycin in mouse xenograft models.
Transplantation of bone is aimed at stimulation of bone formation and giving structural support until a defect has been bridged by new bone.
In accordance with our previous findings of significant decreases of plasma UA levels in either FENNS patients [23] or clinically stable patients with chronic SZ [24], the present data provide further support of a defect in the antioxidant defense system in SZ [1] [10].
This observation is evidence in support of a defect in the capacity to oxidize fatty acids and so is probably one of the mechanisms contributing to fatty acid accumulation in skeletal muscle of old DIO rats.
Cell cycle analysis by propidium iodine conducted in our laboratory provides further support for a defect in the proliferative response to ConA and IL-2 by thymocytes from older mice with the results suggesting the deficiency is an inability to progress from S phase to the G2/M phase of the cell cycle.
Therefore, these data support a membrane/cytoskeletal defect beyond proximal insulin signalling as a major GLUT4/glucose transport system deregulator.
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