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We found that none of the Nek8 mutations identified in NPHP patients, nor the equivalent mutation to that found in the jck mouse model of juvenile cystic kidney disease, alter activity of this enzyme.
Brauch et al. (2004) examined somatic mutation to the von Hippel-Lindau tumor suppressor gene in renal cell tumors of non-TCE-exposed cases, comparing the prevalence of mutation to that found in renal tumors of TCE-exposed subjects reported in an earlier publication (Brauch et al. 1999).
Recently, it was further demonstrated that motor skill learning is significantly impaired in mice carrying the equivalent mutation to that found in affected KE family members, which was explained by aberrant striatal activity during motor skill learning (French et al. 2011).
If a gene is beneficial, natural selection is likely to be the major determinant of its equilibrium frequency; the rate of sporadic mutation to that gene will play at most a minor role.
An evolutionary engineering strategy was used to identify a suppressor mutation to that phenotype [ 21].
A mutation to that locus caused loss of function of the opsin gene (i.e., k = 0; e.g. through loss of expression).
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At the moment, Genepeeks focuses on genetic conditions from single genes, even if they can be caused by lots of types of mutations to that gene.
But the microbe can develop resistance by waiting for a mutation to arise that helps it sidestep these one-target drugs.
Note however, that MS-OPs and MS-RPs not only provide compensation to mutations that have led to their initial recruitment, but also to mutations that occurred later.
The mutation was identical to that in the lung tumor.
The idea is to select products, associated to mutation operators that describe possible faults in the Feature Model (FM).
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