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Furthermore, Dis3L2, which preferentially trims uridylated cytoplasmic RNAs, has been found mutated in patients with Perlman syndrome and in some cases this mutation lead to the development of Wilm's tumor at early stages of child's growth [ 118].
This nonsense mutation lead to premature termination of transcription at the long grain variety, indicating that long grain resulted from the loss of the function of the protein otherwise producing short grains (Fan et al. 2006).
Our results underline the therapeutic potential of hammerhead ribozymes in dominant negative defects and suggest that changes in microfibril architecture brought about by fibrillin-1 mutation lead to a complex disease phenotype.
Unlike OsMYB103L, whose mutation lead to the reduction in the cellulose content and a brittle culm phenotype (Ye et al., 2015), snd2 mutants showed normal culm and no obvious change in plant morphology except for lower cellulose content and thinner sclerenchyma cell wall(Fig. 5b and g).
The exon 19 deletion as well as the L858R point mutation lead to excellent sensitivity to TKIs such as erlotinib and gefitinib; however, despite initial good response, most patients invariably develop resistance against these first-generation reversible TKIs, e.g., via T790M point mutation.
Moreover, a number of the flexible residues identified in this work are also the location of residues, which upon mutation lead to cancer phenotypes in vivo, which may be due to the intimate role of protein motions in Pol β fidelity.
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Nonetheless, the Asp390Gly mutation leads to loss of function leading the pathological condition.
The marR109 mutation led to the truncation of 35 C-terminal amino acids in MarR.
Thus the I214V mutation leads to increased internal dynamics.
This mutation leads to a wider distribution of cell lengths but not to altered growth rates.
However, the E2-I211T mutation led to no apparent effect on CHIKV infectivity for Ae. albopictus.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com