Moreover, the ΔGs of the potential secondary structures caused by the mutations, as tested by Mfold [ 27], do not correlate with the splicing changes, suggesting that the mutation effect is not due to a secondary structural change.
Here we show that young adult female fXPCs show subtle, yet significant, age- and FMR1 gene mutation-modulated cognitive impairments as tested by a quantitative magnitude comparison task.
Mazhab-Jafari et al. did not address nanoclustering and did not test the same RASopathy mutations as have now been tested in the paper under review.
This double mutation-based 'calcium auxotrophy' allows direct selection of suppressor mutations as well as testing of potential suppressor mutations obtained by reverse genetics.
With the aim to confirm instability of mutant Gigaxonin as the key mechanism in GAN, we demonstrated that all mutations tested, as well as isolated BTB or KELCH structural domains, decreased the half-live of the protein by 2 to 9 fold.
From the information obtained from De Michele et al., 2013 we chose 3 mutations as test cases for the sensor response and coupling between activity and fluorescence response.
A fundamental limitation of this report is that due to the use of standard of care testing, we were not able to exclude all patients with innate anti-EGFR resistance due to extended RAS mutations, as testing was done for non-exon 2 KRAS mutations in 70 patients, 79%%, and for NRAS mutations in 23 patients, 26%%.
Treatment with aminoglycoside antibiotics in combination with mitochondrial m.1555A>G mutation was tested as a predictor for failed hearing screening at discharge in a multivariate logistic regression analysis.
This study emphasises the value of combining information about family history, age at diagnosis and tumour morphology when selecting women for germline BRCA1 mutation testing as well as including a screen for large genomic alterations.
It also demonstrates the potential of this method for screening the BRCA1 and BRCA2 genes as every mutation tested for was readily detected.
