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Cystinosis is characterized by the defective egress of cystine out of cellular organelles called lysosomes owing to a defect in the transporter cystinosin; persons with this disorder develop corneal deposits and kidney disease, and kidney transplantation may be necessary.
We next asked whether the observed desegregation of cranial motor nuclei after NΔ390 expression arose owing to a defect in radial migration of the neurons [ 22].
17 By contrast, Jnk2 deficiency suppressed skin tumorigenesis in both models, presumably owing to a defect in cell proliferation and tumor vascularization.
This mutant has comparable growth rates to its parental strain, but produces up to 40% less cell wall disaccharide tripeptide owing to a defect in the slt-encoded lytic transglycosylase.
44 In vitro experiments have revealed that macrophages of Ask1 KO mice had impaired cytotoxicity against enteric bacteria and were vulnerable to bacteria-induced apoptosis owing to a defect in p38 activation.
These results indicate the non-activity of RGPD and TLRT owing to a defect in the activation process, resulting in the suggestion that only mutants with defects in the activation process might have lost insecticidal activity.
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Elizabeth Weil's article (Sept 24) presented important information but did not address the issue of prevention in the most common cause of genital ambiguity, congenital adrenal hyperplasia, in which the adrenal glands overproduce androgens (malelike hormones), owing to a genetic defect.
In contrast to V394L, D409H and D409V mice, N370S mice die within 24 hours of birth (Xu et al., 2003) owing to a skin defect, similar to Gba −/− mice.
Although cell growth in 2D did not differ between the different cells, spheroids obtained with pmiR-210/HIF− were 10 times smaller than control spheroids owing to a strong defect in cell growth (Supplementary Figure S11b).
Of the unique sequence variants we identified, the majority are likely not to be the cause of the mental retardation phenotype in the patients as the pedigree structure suggests that the disease is likely to be owing to a single gene defect.
In contrast, Rd was lower in diabetic subjects for several hours after meal ingestion owing to a combination of defects in insulin secretion, insulin action, and glucose effectiveness.
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