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Exact(6)
Surprisingly, all six residues correspond to sequence positions associated with drug resistance mutations, demonstrating that the very residues that are responsible for native substrate specificity in HIV-1 protease are altered during its evolution to drug resistance, suggesting that drug resistance and substrate selectivity may share common mechanisms.
In fact, in the past decade, forward genetics has uncovered mutations demonstrating that certain genes exist only in mammals, that specific mechanisms function only in mammals, and that particular biological processes may exist only in mammals; hence screens focused on these processes have identified unsuspected genes.
In 1 patient (MS-3), we identified a number of highly similar OCB peptides incorporating amino acid mutations, demonstrating that progression of somatic hypermutation can be represented in OCBs (Fig 6).
The SYN1 mutations are the first mutations demonstrating that a common genetic defect can be at the basis of both pathologies and that a dysregulation of synaptic homeostasis can play a causal role in the pathogenesis of both diseases.
Finally, they show that pharmacological inhibition of MEK, a downstream factor in the RAS-MAPK pathway, rescues the phenotype induced by activating N-Ras mutations, demonstrating that the observed defects are mediated exclusively by enhanced activation of the RAS-MAPK signaling pathway.
It is notable that in all these diseases, increased stathmin is a gain-of-function brought about by different genetic mutations, demonstrating that increased stathmin could be a final common pathway to disease pathogenesis, with other factors defining which motor neuron type is affected.
Similar(54)
Only one case presented a BRAF mutation, demonstrating that is a rare alteration in EAL.
Screening of mutations demonstrates that the C-domain (residues 29 40 (42)), the median domain (residues 17 22) and the N-domain (1 16) are all crucial for interaction.
Examination of the published KLF6 mutations demonstrates that indeed a number of the cancer-defined mutations occur in the NLS and NES domains (Figure 8).
The analysis of previously reported C-terminal Vpr mutations demonstrate that they do not alleviate the block of IL-12 secretion.
Analysis of mucA mutations demonstrated that 75% corresponded to the mucA22 allele, with the remaining 25% being represented by C-to-T transitions (Table 1 and Figure 2C).
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com