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The reduced light reflectivity in the TM23 mutant found in this work suggests a reduced density of cellular ultrastructure content.
Additional support for this contention comes from earlier reports of correct autocatalytic processing of a S475L mutant found in an LINCL patient [27], [52].
A mouse model of the mild form of SMA was generated by introducing SMN(A2G), a SMN point mutant found in type III SMA patients, to the severe SMA background [19].
EGFRvIII is the most common deletion mutant found in human gliomas [ 27, 28].
However, BBR exhibited little effect on the Gli-luciferase activity stimulated by SmoM2 (Fig. 3d), a frequent mutant found in cancers [ 29].
Finally, EGFRvIII, a mutant found in glioblastoma that lacks a portion of the extracellular domain, showed defects in internalization and ubiquitylation by Cbl.
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METHODS: Hammerhead ribozymes were developed and assayed in vitro against RNA targets homologous to the opsin P347S mutants found in a transgenic porcine model and in humans.
Several of the permeability mutants found in this screen were also identified in an earlier screen for ether sensitivity (gis1Δ, osw1Δ, osw2Δ, ydr326cΔ, far10Δ) [10].
To confirm this finding and expand it to the other IDH mutants found in gliomas, we measured 2HG levels in media incubated with HOG cells overexpressing IDH1-WT, IDH2-WT, or one of the recurrent cancer-derived mutants.
When we retested the phenotype of transposon mutants found in TBCF10839 in publicly available transposon mutant collections of sequenced strains PAO1 [84] or PA14 [85], we noted that biochemical or physiological phenotypes of low complexity such as the presence of an enzyme or metabolite were similar in most, but not all tested cases (see examples in Figure 6).
Thus, taken together, the ranking order of the fitness values for all RT mutants in the presence of AZT correspond well with the frequency distribution of the respective mutants found in patients under AZT treatment i.e. T215Y > M41L > T215S > T215N (Stanford Drug Resistance Database, http://hivdb.stanford.edu).edu
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