Sentence examples for mutations we show from inspiring English sources

Using human neurons generated from control and FXS patient-derived induced pluripotent stem (iPS) cells or from embryonic stem cells carrying conditional FMR1 mutations, we show here that loss of FMR1 function specifically abolished homeostatic synaptic plasticity without affecting basal synaptic transmission.

By assessing performance on both known and novel disease mutations, we show that OVA performs biologically meaningful candidate variant prioritization and can be more accurate than another recently published candidate variant prioritization tool.

Thus by examining extra, non-founder mutations in close proximity to the founder mutations we show that this method easily detects missense mutations as well as small insertions and deletions.

Using ife-3 gene mutations, we show here that it is maternal ife-3 function that is essential for embryogenesis, but ife-3 null progeny of heterozygous animals are viable.

Using a Pen-2 knockout mouse embryonic fibroblast cell line rescued with Pen-2 constructs containing single missense mutations, we show that Pen-2 is intimately linked with both γ-secretase maturation and activity.

For biologically plausible rates of mutations we show that, in bacteria, TAG stop codon is universally associated with lower fitness, with TAA being the optimal for G-content < 16% while for G-content > 16% TGA has a higher fitness than TAG.

Next, by analysing unaffected relatives carrying GRN mutations, we showed that the GRN reduction is independent of the disease status, suggesting that the GRN ELISA could also function as a diagnostic tool to identify asymptomatic GRN mutation carriers.

Using a combination of deletion and charge-to-alanine mutations, we showed that the RS2 segment is important for facilitating SRSF1 phosphorylation by enhancing the rate of ADP release, the rate-limiting step for SR protein phosphorylation.

Through a series of mutations, we showed that the selectivity of Bacillus Nav channels can be converted from nonselective, to relatively higher Na+ or Ca2+ selectivity, suggesting that the filter is readily mutable in evolution to adapt to ionic conditions.

Using gene targeting to engineer a single-amino-acid mutation, we show that the Dnmt3L histone H3 binding domain (ADD) is necessary for spermatogenesis.

Neighbor-joining, minimum evolution, and maximum parsimony methods produced broadly concordant tree topologies, as did different models of nucleotide mutation (we show neighbor-joining trees based on pairwise distances calculated with the Tamura 3-parameter model and a gamma distribution coefficient of 5.0 [ 26]).