Sentences with phrase «as nonsense mutations»

To answer this question, the researchers created numerous premature stop signs, known as nonsense mutations, in test genes in human and yeast cells.

Ataluren and amlexanox, work by enabling cells to bypass a particular type of DNA gene change known as a nonsense mutation.

The company's lead product, candidate ataluren, is used for the treatment of patients with genetic disorders that arise from a type of genetic mutation known as a nonsense mutation.

Not exact matches

«Our new data is scientifically important because ataluren restores activity to genes inactivated by nonsense mutations, and as a result, it has the potential to do so much for a large number of very complex genetic disorders,» Jacobson said.

Thirteen tumors had two non-silent MAP3K1 mutations (biallelic loss), and most of the mutations are highly deleterious (nonsense, frameshift, etc.) suggesting that this gene may act as a tumor suppressor.

LOF mutations were defined as nonsense, frameshift, and splice - site variants, along with missense variants resulting in < 25 % of wild - type ANGPTL3 activity in a mouse model.

The underlying mutation responsible for the phenotype in the iris pigment dispersion mouse was identified as a C to T substitution that resulted in a nonsense mutation, Arg150stop.