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Functional data indicate the MEK1 mutation may confer alteration of activation through the MAPK pathway.
In fact, even a simple genetic mutation may confer a performance advantage.
In CAG repeat expansion diseases, the presence of coding mutation may confer toxicity to the mutant transcripts and to encoded poly-Q proteins.
Previous studies have reported that the I117M mutation may confer oseltamivir resistance (4, 5 ), although in this study we have demonstrated that this is not the case.
A I638F mutation in the kinase domain of DDR2 was shown to promote the formation of cell colonies in soft agar, suggesting that the mutation may confer an oncogenic gain-of-function phenotype.
As activating mutations of RAS genes and FGFR3 are mutually exclusive events in UC and are thought to activate the same signalling pathways (Jebar et al, 2005), a RAS mutation may confer resistance to FGFR inhibition.
Similar(54)
These mutations may confer dominant-negative or gain-of-function properties to p53.
Thus, the mutations may confer a growth advantage on tumor cells even while making them much more susceptible to Iressa.If the mutated EGF receptor really does predict how well Iressa is likely to work, "it would be the single most important finding in lung cancer genetics ever," enthuses lung cancer specialist David Carbone of Vanderbilt University School of Medicine.
By contrast, certain well-described single-gene mutations may confer a high relative risk of stroke, e.g. CADASIL, but contribute very little to overall stroke occurrence by virtue of their rarity.
Such putative mutations may confer a lower risk of cancers associated with Lynch syndrome for relatives.
Nevertheless, one has to be cautious as some mutations may confer loss of function without necessarily conferring transcript and protein instability.
Related(20)
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