Sentence examples for mutations shows that from inspiring English sources

Analysis of these mutations shows that while removal of either gene alone has no phenotype, the loss of both leads to subtle but reproducible defects in retinal development.

Comparison of average inward and outward channel currents and inactivation time of all published mutations shows that all mutations lead to increased TRPC6 channel activity by one of the above mechanisms, M132T calcium peak influx is the largest calcium peak influx described so far (Table 1).

Analysis of the mutations shows that they cause severe impairment of NOD2 signalling and transcription of pro-inflammatory mediators.

Importantly, correction of aberrant splicing caused by FTDP-17 mutations shows that trans-splicing can be achieved in the presence of cis-splicing elements of altered strength.

Indeed, the fact that, in this example, before the gene is transcribed, first it is silenced, then a TE is inserted, and then further modifications occur, such as insertions of additional TEs and point mutations, shows that a whole lot must happen before it can become subjected to traditional natural selection in its new context.

As previously mentioned, mutations in SLC22A16 (L325R, R150Q, H49Y) were identified and modeling of L325R and R150Q mutations shows that both mutations sit at the entrance/exit of the predicted translocation pore, suggesting a possible impact on function and doxorubicin transport, H49Y was not predicted to have an impact.

More precise expressions that account for finite chromosome numbers and integrate over positions of linked mutations show that s ∼ d is generally no more than 4 s − Δ U h (Johnson 1999b; Lynch 2008).

Inspection of these accessibilities for the CFH mutations showed that 67 out of 100 mutated residues were solvent exposed, while 33 out of 100 corresponded to buried side chains with low-solvent accessibilities of 0 2 (Supplementary Figure S2).

Computational modeling of the experimentally identified mutations showed that these mutations reduced the binding affinity through one of the three scenarios: through SCF destabilization, through elimination of favorable SCF/c-Kit intermolecular interactions, or through allosteric changes.

Functional analyses with cGAS mutations show that the active site residues (human G212, S213, E225 and D227) are required for the synthase activity of cGAS.

Sequence analysis of the exonic induced mutations showed that 31,3% were silent, 65,1% were missense, 2,4% were stop and 1,2% were splice junction mutations (Figure S1, Table 3).