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Although it has been shown that mutations causing significant loss of pyrazinamidase activity significantly contribute to pyrazinamide resistance, the mechanism of resistance is not completely understood.
Recently, it has been shown that mutations in the signaling motifs indeed reduce or abolish AcrB activity (Liu and Zhang 2017).
It has been shown that mutations at or around this site render the collagen resistant to MMP collagenases in vitro [41].
It has been shown that mutations in at least four myotubularin family genes (MTM1, MTMR1, 2 and 13) are causative for human neuromuscular disorders.
Finally, it has recently been shown that mutations in either ELG1 or CTF18 have the same effect in suppressing the hst3 hst4 mutant that contains hyperacetylated histone H3 at position K56 [38].
Recently, it has been shown that mutations in the PIK3CA and BRAF genes may also confer resistance to anti-EGFR therapy although patient numbers are still small [3], [4], [6], [7], [8], [22], [23].
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It has been shown that mutation of human SOS1 gene is responsible for a rare hereditary gingival fibromatosis type 1, a benign gingival overgrowth.
Prior to that it has already been shown that mutation of Ser57 and His355 completely abolished the enzymatic activity of HEF, essentially confirming the data from crystallography, but mutation of other residues in the vicinity, i.e. Asp247, Asn266 and His354 also affected the hydrolytic activity of HEF (Pleschka et al., 1995).
It has been shown that mutation at this particular site will reduce binding affinity by almost 4-fold [11].
However, it has already been shown that mutation of xanB results in an incapacity to produce symptoms and to colonize the sugarcane stalk [ 28].
Moreover, it has been shown that mutation of Na v 1.7, which increases excitability of sensory neurons, can lead to a decrease of sympathetic activity when expressed on sympathetic neurons.
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been proposed that mutations
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been known that mutations
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