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Multiple genetic disorders caused by mutations that affect the proteins lamin A and C show strong skin phenotypes.
Although further studies on the full-length domain II of the WT and D320E NS5A proteins will be required to elucidate the precise structural origin of this conformational inversion, our observations suggest that CypA resistance arises by mutations that affect directly the conformation of domain II of the NS5A protein.
RD disorders are initiated by mutations that affect rod and/or cone photoreceptors and cause subsequent degeneration and cellular death.
The activity of Md-tra can be inhibited by mutations that affect the maternal germline or zygote separately, which can convert the house fly sex determination system into one controlled by the maternal genotype.
Indeed, many human channelopathies, which include many neurological or cardiac disorders, are very likely caused by mutations that affect both the quality and quantity of specific ion channels at the cell surface (Kullmann, 2010; Rougier et al., 2010).
To discriminate between effects on male courtship behavior through visual, olfactory, and gustatory stimuli, we eliminated their perception in the courting male by mutations that affect single senses but not the processing functions of the central nervous system.
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These results show that man could have played with this labile boundary more than once, by selecting mutations that affect the rose AGAMOUS pattern of expression.
These patterning defects are not as pronounced as those shown by zygotic mutations that affect genes required for AVE specification [44].
By isolating mutations that affect that pathway, we can start to understand the mechanism of the assay.
The simple architecture, combined with identification of consensus residues that are important for stability, has enabled systematic perturbation of the energy landscape by single point mutations that affect stability or by addition of consensus repeats.
The fact that ΔEa(O→C) is affected by the same mutations that affect the ΔG of the open state suggests that the transition state is similar to the open state, and hence one of the earliest structural changes to occur during channel deactivation is a conformational change at the C-terminus of KCNE1 that results in channel closure.
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