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Moreover, robustness of allosteric performance with respect to mutations was demonstrated.
Recently, a strong association between PD and GBA mutations was demonstrated.
Hornig-Do et al 2014 provide evidence that the C-terminal mtLeuRS (Class I) binds to a number of mitochondrial tRNAs, but the rescue effect on mutations was demonstrated here only within Class I (Fig 1).
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BRCA mutations were demonstrated in 496/2,118 (23 %) breast cancer kindreds.
Two mutations were demonstrated to be de novo events, and all mutations occurred independently.
In addition, clinically more severe, recessively inherited, compound heterozygous mutations were demonstrated.
173 HDAC6 null mutations were demonstrated to correct tau-induced microtubule defects in a fly model as well.
Probably the best documented genes with respect to the latter are BRCA1 and BRCA2, with specific germline mutations being demonstrated to be associated with various indicators of poor outcome [ 6- 9].
The mutational status was only determined in a subset of 12 patients, in whom KIT exon 11 mutations were demonstrated in 10, KIT exon 9 mutation in 1, and no mutation in 1.
More recently, MET and ALK mutations were demonstrated in Ewing sarcomas, and in vitro treatment of five patient-derived cell lines with MET and/or ALK inhibitors produced IC50 values within the low micromolar range [245].
A similar mutation was demonstrated for the Shh gene whose ectopic expression in the anterior limb of the mouse was due to insertions about 1Mb upstream from Shh.
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