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A functional analysis was performed, and the results showed that all three mutations could lead to the formation of misfolded proteins.
Both pre-existing and later evolving mutations could lead to detectable genetic alterations.
Finding out what causes the mutations could lead to new treatments.
Now, results described in tomorrow's issue of Nature suggest that BRCA2 mutations could lead to cancer by interfering with cells' ability to repair damaged DNA.
Further, an enhanced understanding of the epigenomic alterations associated with these driver gene mutations could lead to the discovery of novel pathways involved in tumorigenesis, which may themselves possess unique vulnerabilities for therapeutic intervention.
The ability to identify common mutations throughout a carcinoma could permit use of single agents that target the bulk of the tumor, while assaying heterogeneous actionable mutations could lead to implementing combinatorial approaches that target sub-clonal populations of cells [86].
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To investigate how the p.Trp43Arg mutation could lead to autosomal dominant congenital cataract, the recombinant WT and mutated γD-crystallin were overexpressed in E. coli, purified, and studied by biophysical methods.
The great fear: "Discovery of a bad mutation could lead parents to an abortion".
After hearing about gene studies going on at Johns Hopkins, he learned that some cancers can be traced to a gene mutation, and mapping the mutation could lead to a cure for other patients down the line.
They hope that exploiting this mutation could lead to a new type of herbicide, which would kill unwanted weeds not engineered with the MDHAR6 adaptation.
Despite uncertainty about how a mitochondrial DNA mutation could lead to such diverse symptoms, hypertension expert Theodore Kurtz of the University of California, San Francisco, says that the finding "could be of tremendous importance".
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