Despite defective outer segment development in mutant photoreceptors, we observe structurally normal connecting cilia positioned apically within the inner segment using transmission electron microscopy (brackets in Fig. 4A and B, arrow in Fig. 6C and D).
However, the addition of iron would neutralize or mask the original iron-deficienct state of these enzymes in vivo (in the ER/Golgi of SCD-EDS patient cells), and therefore produce 'normal' in vitro enzymatic activities despite defective in vivo hydroxylation.
TPS3106 demonstrated relatively high levels of PSM production, despite a defective agr (fig. 2).
Paradoxically, there is upregulation or increased expression of a large number of proangiogenic mediators despite the defective angiogenesis in SSc.
Likewise, our result that the BCL9 double-mutant behaved as a DN, despite being defective in Pygo and β-catenin binding (see above), suggested that this protein may bind to an additional ligand required for its function in Wnt signaling.
Surprisingly, and in contrast to the MAFs, the growth properties of ∆9 Lmna embryonic fibroblasts (MEFs) were practically indistinguishable from their wild type counterparts, despite having defective nuclear morphologies, and identical ∆9 Lmna expression levels to MAFs [ 45].
Despite a defective FERM-binding domain, Crb proteins expressed in foscrb Y10A; crb GX24 embryos promote tracheal and salivary gland invagination, although these processes occur in a less-coordinated manner, possibly due to reduced pMoe recruitment.
Despite their defective HIF-1 and consequent down-regulation of glycolytic enzyme expression, Hepa-1 c4 tumours maintain glucose uptake and glycolysis because the resulting low [ATP] high [AMP] allosterically activate PFK-1.
The company contended its Jeeps were not defective, despite a government investigation that linked 51 deaths to catastrophic accidents that occurred when gas tanks had ruptured.
The car's owner, a Mr Chen, claimed it was defective, despite damage that looked suspiciously like the result of a head-on collision.
This efflux defect could underlie the in vivo defect observed for the UTI89 ΔhofQ mutant, but we do no believe this to be the case, as the UTI89 ΔgspD mutant had no in vivo phenotype despite being equally defective for efflux in vitro.
