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Any mutation that impairs the arrest-inducing ability of the nascent chain would allow more ribosomes to translate the lacZ sequence and thereby increase the β-galactosidase activity.
The hallmark of CF is a genetic mutation that impairs cells' ability to transport chloride, leading to the buildup of sticky mucus in the lungs and other organs and causing a constellation of symptoms, most notably recurrent lung infections and progressive scarring and loss of lung function, as well as a range of pancreatic, liver and other gastrointestinal problems.
The K27M mutation is a gain-of-function mutation that impairs trimethylation at residue 27.
Is survival endangered by a particular mutation that impairs the system?
In vitro mutagenesis studies indicated that p.R215W might be a functional mutation that impairs the association of NBN with γH2AX [ 21].
DOI: http://dx.doi.org/10.7554/eLife.08898.016 Previous studies have implicated CED-10/Rac1 as a target of CYK-4 GAP activity, although these studies utilized the cyk-4 or749ts cyk-4 or749tst imutationembrane localizathat of CYK-4.
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These findings suggest that chemicals and genetic mutations that impair topoisomerases — and possibly other components of the transcription machinery — could contribute to ASD and other neurodevelopmental disorders.
To gain insight into the function of Spt10, we identified mutations that impair or improve the growth of spt10 null (spt10Δ) mutants.
A Genetic Component Five to 10 percent of pancreatic cancer patients have a family history of the disease and are presumed to carry mutations that impair their body's ability to repair damage to DNA.
It was therefore of interest to determine if mutations that impair oligomerization increase the susceptibility to calpain.
Another conserved longevity pathway is dietary restriction - food limitation and genetic mutations that impair feeding or nutrient uptake can increase C. elegans lifespan [8], [13], [33] [39].
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