Scientists hope this approach could offer new treatments for diseases caused by single mutations, such as Huntington's disease, or cancer, by blocking mutated genes that promote cancerous behavior.
Some people are born with one of these mutations, such as BRCA1 for breast cancer.
Phosphomimicking mutations, such as S58(D/E), induce incomplete dimer dissociation.
"If you had one of these mutations" -- such as those that cause Tay-Sachs disease -- "it probably could cause high intelligence," he asserted.
Methods for similarly validating the outcomes from dominant mutations such as those arising from RNA interference (RNAi) are needed.
The emergence of NA mutations, such as H275Y, has led to great resistance against neuraminidase inhibitors, including oseltamivir and zanamivir.
In previous studies, p110α with hotspot mutations such as E545K and H1047R were shown to be gain-of-function mutations.
No secondary resistant mutations such as T790M mutation or insertions in exon 20 were found in those patients.
These long-culture SCCs showed features previously associated with cell culture-induced mutations, such as a high fraction of C>A conversions and the cancer signature 1816.
Various single-point mutations including V30M and L55P cause exclusively neurological disorders (polyneuropathy), and rare mutations such as G53A and A25T are associated with oculoleptomeningeal amyloidosis.
This gives it up to 2x lower error rates than current tools and lets it match classes of mutations, such as longer indels, that these tools miss.
