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Some people with Crohn's disease have genetic mutations that disable the salubrious effects of IL-10.
The team also identified mutations that disable proteins — known as tumor suppressors — which suppress malignancy.
Hunter syndrome is caused by mutations that disable an enzyme called iduronate-2-sulfatase (IDS), which is responsible for breaking down certain complex sugars in the body.
Soon after researchers began to sequence individual genomes 5 years ago, they realized that everyone's DNA seems to have major mutations that disable the protein for which the gene codes.
Researchers have found that many mutations that disable p53 cause the protein to misfold, thereby producing a molecule without the rigid three-dimensional conformation it needs for this binding.
Both within- and between-dimer mutants were unable to assemble, as expected for mutations that disable a protofilament interface.
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It turns out, the researchers report in the Friday issue of the journal Science, that those individuals who barely responded have a mutation that disables one of their two copies of a gene called apoC-III.
The AIDS virus enters the T cells of the immune system by latching on to a receptor called CCR5, but about 10percentt of Europeans have a mutation that disables the CCR5 gene.
All cats share a mutation that disables one of the two genes that build a working sweet receptor, whether for the tongue, intestine or any other part of the body.
To further simulate a paternal genome, the team used immature oocytes that carried a mutation that disables a gene implicated in a cascade of imprinting events thought to derail parthenote development.
In mice with a mutation that disables the inner clock, the gut bacteria didn't exhibit the same fluctuations, in either population or activity, in response to light and dark suggesting that the animal's clock somehow controls that of the bacteria.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com