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In the current study we have screened for functional deficiencies consistent with putative defects of CatSper function in men with normal semen parameters attending for IVF treatment.
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Impaired development of primary guard hair follicles at E15.5 can be explained by the absence of NF-κB activity, due to TAK1 deficiency, consistent with a model in which TAK1 is involved in the EdaA1/EdaR/NF-κB pathway [35] (see Fig. 7).
Thus, eliminating or depleting DNA-PKcs or 53BP1 does not suppress MMC sensitivity associated with FANCJ deficiency, consistent with findings in Caenorhabditis elegans (Adamo et al, 2010).
Of note, the growth of the latter was unaffected by IFNAR deficiency, consistent with the fact that they do not display an IFN signature.
Our observation that high-affinity P transporters were upregulated under P deficiency is consistent with reports from others in rice (Paszkowski et al. 2002; Ming et al. 2005) and other species (Raghothama and Karthikeyan, 2005).
The skin phenotype due to Scd1 deficiency is consistent with atopic dermatitis, involving inflammation and pruritis.
Our finding that Sep15 expression was not altered by selenium consumption or deficiency is consistent with previous studies in which mouse hepatic Sep15 protein [76], [81] and mRNA levels [81], [82] were not altered with selenium consumption or deficiency.
Phthalate-induced zinc deficiency is consistent with germinal epithelial damage.
Our findings of increased mortality from DEN challenge by GSNOR deficiency are consistent with its prominent effect on nitrosative inactivation of AGT.
The striking increase in hsp27 protein levels, combined with the observed colocalization of hsp27 with perinuclear desmin aggregates, indicated a massive activation of chaperones in response to plectin deficiency, fully consistent with dysregulated protein homeostasis.
Detection of β-, γ-, and δ-SG residual expression in the Sgca-null mouse and patient biopsies suggests that there is another protein that is weakly compensating the α-SG deficiency, which is consistent with α-SG deficiency being the least severe of the sarcoglycanopathies.
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