Sentence examples for validated mutation of from inspiring English sources

Flies bearing a validated mutation of mapmodulin, the Drosophila homologue of Anp32, are viable [35].

The performed global analysis was able to propose an association for 11 of the 22 validated mutation signatures, while the origins and aetiology of the other 11 mutational signatures remains unknown.

The accuracy of IT-based analysis was assessed in the context of experimentally validated mutations.

These analyses showed that 211 mutations may result in alteration of the biological activity of GUSBp, including previously experimentally validated mutations.

It was sequenced with NGS to validate mutations identified in the monoclonal strains and to gauge the distribution of mutations after prolonged selection.

Importantly, in humans, validated loss-of-function mutations in the genes encoding NOTCH or the γ- secretase subunits PEN-2, PSEN1 and Nicastrin cause skin phenotypes ranging from acne inversa to cutaneous squamous cell carcinomas, as well as chronic myelomonocytic leukaemia [ 87- 89].

The germline mutation rate was extrapolated from the frequency of experimentally validated germline mutations relative to the total number of potential germline mutations from the genome-wide variant calls.

Though not experimentally validated, two of these mutations, including the splice site mutation and the R353C mutation, were predicted as potentially damaging mutations that may inactivate NOTCH1 activity based on the analysis of their potential structural effects [ 48].

Currently, there are only a small (yet increasing) number of systems for which both a set of functionally validated beneficial mutations and their selection coefficients under different environmental conditions are available (Jensen 2014).

The interaction between the miRNAs and the target mRNA sequences was further validated using a point mutation of the putative miRNA-binding site in the 3′ UTR of the FKBP51 gene.

The pathogenic effect of this mutation was validated by knockdown of ap1s1 expression in zebrafish by a morpholino, resulting in perturbation in skin formation, reduced pigmentation and motility deficits.