This data compliments and expands the spectrum of phenotypes resulting from this known gain-of-function mutation, including not only LQT3, cardiac conduction defects, and sudden death but also DCM, hitherto associated with loss-of-function mutations, for the first time.
In this report, we demonstrated that RNAi-mediated silencing of a gene by targeting its UTRs is useful in studies where the loss of function resulting from this silencing must be complemented with the expression of an RNAi-resistant copy of the silenced gene, in order to demonstrate that the phenotype is indeed due to silencing of that gene, and not to inactivation of another one.
We then carried out further tests to confirm that this rescue effect of d17iso-SPA supplementation resulted from the function of this metabolite itself, but not from its catabolic conversion back to C15ISO or C17ISO.
The lobed leaves might result from the function of the meristems located at the boundary of the leaf.
Theoretically, the TMVFN20 or TMVSC1754-induced HLR in Samsun nn was not resulted from the function of the N or N' gene (Figure 3A).
Dwarfism may also be caused by insensitivity of bone tissue and other tissues to IGF-1, resulting from decreased function of IGF-1 receptors.
Here we propose a cell-autonomous mechanism for adiposity as a result of persistent cell surface glucose transporter type 4 (GLUT4) in adipocytes resulting from impaired function of ankyrin-B (AnkB) in coupling GLUT4 to clathrin-mediated endocytosis.
The array-CGH test is particularly indicated for disorders resulting from loss of function or haploinsufficiency.
Results for the grid parameters resulting from the cost function minimization.
Based on the results in this paper, it was concluded that allogeneic MSCs resulted in more optimistic outcomes for patients with DCM and ICM partially resulting from corrected endothelial function.
Imatinib is an inhibitor of c-Kit receptor tyrosine kinase, and constitutive activation of this receptor, resulting from gain-of-function mutations in the c-Kit gene, had been hypothesised to be critical in GIST (Rubin et al, 2001).
