Sentence examples for mutations are amenable from inspiring English sources

A potential therapeutic strategy to reduce the CF disease burden is to identify which of the ~ 2000 CF mutations are amenable to AO-mediated splice intervention.

Although not all DMD mutations are amenable to antisense therapy for example large deletions of the dystrophin gene or those affecting the cysteine-rich area researchers estimate that exon skipping therapy may be applicable in over 90% of DMD patients [11], [14].

FLT3-ITD mutations are amenable to PCR-based molecular diagnostic DNA testing because they are limited to a small, predictable region of the FLT3 gene.

Of additional interest, a small percentage of tumors may also have HER2 mutations that are amenable to targeted HER2 agents, and these patients would not be expected to have high expression levels of HER2 [ 13, 15– 15].

Here, we demonstrate that buffering by RNA chaperones occurs at the organismal level, establish that helicase and nucleic acid-binding activity are required for buffering by DBRHs and CspA, respectively, and identify individual mutations that are amenable to buffering.

The β-turns of each AR are amenable to mutations, and reactive thiols were inserted into selected ARs to give constructs with different spacing.

While splice mutations in the two invariant intronic bases flanking each exon have also been reported (e.g. c.4909+1 G>A, c.1612-2 A>G), these mutations are not amenable to splice correction, since the canonical splice sites are lost.

If such statistics were applicable to CFTR mutations, then up to 500 different mutations may be amenable to AO splice-switching as personalised therapies.

Meanwhile, if the proportion of mutations in known genes is applicable to our entire group then up to 50% of the cases might have mutations in known genes that are amenable to targeted screening.

Moreover, use of ARs harboring patient-related mutations will be amenable to agonist/antagonist screening for personalized patient drug selection.

We also demonstrate that markers have a very low genotyping error rate, a low rate of appearance of new mutations when compared to SSR, and are amenable for easy storage in genotype databases.