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Therefore, we investigated whether decreased numbers and/or defective functionality of Tim-3+PD-1+CD8+ T cells can be observed in miscarriage patients.
Our results show for the first time a defect in HSP90 expression in highly differentiated CD8+ T cells, thus providing new insights about the possible critical role of the chaperone in the defective functionality of senescent T cells.
While the absence of Ras-GEF activity may also be related to the defective functionality of beta cells in pancreatic islets of RasGrf1 KO mice, these observations also confirm the absence of compensatory transcriptional activation of other GEFs associated to the disappearance of RasGrf1 in those cells [ 17].
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Defective mitochondrial functionality and visceral adipose tissue expansion are crucial footprints of age-related metabolic disorders [ 26- 27].
For example, WAS KO mice have defective Treg-cell function 6– 9, whereas in the B/cWKO model, Treg cells express WASp normally and have normal intrinsic functionality.
When tested for complementation or multicopy suppression of the defective Sso1p or Sso2p, the functionality of mutant proteins containing all mutations was comparable to that of the wt proteins in vivo (Figure 2A, Table 1).
Indeed, beside defective white adipose tissue formation and functionality in IL-7 transgenic animals, we also observed evidence of IL-7's central action.
Defective neural development likely accounts for the impaired functionality of the brain that is observed in OCRL1 mutants, namely increased susceptibility to heat-induced seizures, which is evident already at 6 dpf.
Human primate cybrids can perform respiration, although mitochondrial functionality is partially compromised: Analyzing the functional consequences on each "hybrid" complex, the above authors found that Complex I activity is defective, whereas other hybrid RC complexes appear to have normal activity.
The ProC® Global is a clotting assay designed to globally evaluate the functionality of the protein C (PC) pathway, which is found defective in up to 30% of the Caucasian patients with thrombophilia.
A single defective gene causes proteins in the nervous system to misfold into "prions" that lose their normal functionality.
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