Sentence examples for mutation revealed a from inspiring English sources

Functional characterization of the mutation revealed a six-fold reduced rate of tRNAIle precursor 3′ end maturation in vitro by tRNAse Z. Furthermore, the mutated tRNAIle displays local structural differences from wild-type.

A more detailed analysis of a subset of U12-type intron-containing genes that were either upregulated or not affected by the U6atac mutation revealed a substantial level of splicing activity of U12-type introns, but also accumulation of mRNA species containing unspliced U12-type introns (Fig. 4D).

The QTL detection analysis performed on the 14 families from sires heterozygous at the mutation revealed a significant QTL close to the IGF2 locus.

Indeed studies performed on fibroblasts from patients carrying the homozygous W437X (Trp → Xxx) nonsense PINK1 mutation revealed a normal mitochondrial tubular network (Piccoli et al, 2008).

Moreover, the biochemical characterisation of a recombinant ABCR protein with the p.Arg1129Leu mutation revealed a substantial reduction in both expression and ATP-binding activity.

High resolution crystal structures of PRP51 with the active site D25N mutation revealed a ligand-free form and an inhibitor-bound form showing a unique binding site and orientation for DRV.

Restriction digestion with HaeIII of the PCR fragment containing the A3243G mutation revealed an 89% mutational load.

The bulldog mutation revealed an additional level of RER complexity.

In paired bone marrow samples drawn before and after the emergence of imatinib mesylate resistance, like AQP5 expression, a gain of bcr-abl mutation revealed an independent association with the development of drug resistance (p = 0.025) (Table 2).

Analysis of primary cultured myoblasts derived from a patient with a heterozygous p.Arg350Pro desmin mutation revealed an aberrant response to mechanical stress.

With regard to a putative mitochondrial pathology, an analysis of the mitochondrial function in isolated saponin-permeablized skeletal muscle fibres from a desminopathy patient (heterozygous p.Lys240del desmin mutation) revealed an in vivo inhibition of complex I activity [ 158, 159].