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We attempted to establish at the single-cell level the basis of the mutant load stability observed across fetal tissues.
In the present study, we investigated the molecular pathogenic basis of the mutant ZIP13 proteins ZIP13G64D and ZIP13ΔFLA, which are responsible for SCD-EDS, to determine how these mutations lead to the loss of ZIP13 function.
Igu, which is a C2H2 zinc finger-coiled-coil domain protein, was originally proposed, on the basis of the mutant phenotypes and localization of an overexpressed Igu-GFP fusion protein, to regulate the nuclear-cytoplasmic shuttling of Gli proteins.
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To gain insight into the molecular basis of the mutant-specific manifestation of age-related phenotypes, we used comparative microarray analysis of young (3 months) and old (20 months) female livers to discover gene expression signatures distinguishing XpdTTD mice from their age-matched wild type controls, using custom long-oligonucleotide (70-mer) DNA microarrays containing 16,463 genes.
To gain further insight into the molecular basis of the mutant-specific manifestation of age-related phenotypes, we used comparative microarray analysis of young and old female livers to discover gene expression signatures distinguishing XpdTTD mice from their age-matched wild type controls.
On the basis of this mutant allele effect, we then assessed whether klotho gene deficiency might alter lifespan in an egl-17 gene-dependent mechanism.
However, detailed information on the structural basis of the def mutant has remained scarce.
On the basis of the vac14-2 mutant, we predict that contact points for Atg18p include the intrarepeat loops of HEAT repeats 2 and 3. Here, we present support for the model that Fab1, Vac14, and Fig4 form a ternary complex.
Therefore, the use of high-growth FPV reassortants with HA and NA proteins of circulating viruses generated on the basis of the cleavage mutants might be of considerable advantage especially in a pandemic situation where timely availability of large numbers of vaccine doses is of utmost importance for the immediate and efficient protection of vulnerable population groups.
Residues of DELLA proteins that mediate interaction with GID1 gibberellin receptors have, in the past, been deduced on the basis of deletion mutants of the conserved DELLA and TVHYNP motifs, or nested deletions of the DELLA proteins [ 21, 23].
On the basis of our mutant mouse study, we suggest that PCP pathway mutations should be sought when NTD and renal malformation co-exist.
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