Sentence examples for consequence of mutations on from inspiring English sources

Michaud et al. used conditionally immortalized mouse podocytes infected with adenoviral constructs containing WT or K256E murine Actn4 to assess the functional consequence of mutations on subcellular localization, adhesion, spreading, migration, and formation of foot process-like peripheral projections [ 65].

It indicates that the amount of normal protein is decreased (as seen in inborn errors of metabolism) Gain of function It refers to the functional consequences of mutations on protein function.

Although the mechanistic consequences of mutations on splice sites are fairly easy to interpret, evaluating precisely how inherited disease-causing mutations influence the loss or gain of ESE/ESS motifs remains challenging [ 18].

Algorithms to evaluate the structural and functional consequences of mutations on proteins (e.g. PolyPhen and SIFT) are commonly used to assess the potential deleterious effects of mutations [ 25- 27].

We organize this presentation into five main categories, denoting the kinds of problems being addressed by the various studies: identifying dysregulated pathways, elucidating consequences of mutations on network activities, integrating network operation into cell behavioral functions, integrating cell behavior into tissue-level processes and predicting effects of molecular interventions.

We next evaluated the consequences of mutations of AnkG characterized in Figure 3 on its function in clustering Nav channels and Nfasc at the AIS in cultured hippocampal neurons.

Finally, the model we constructed allowed us to probe the consequences of mutation on evolution.

Interestingly, the consequence of NOD2 mutations on the production of interleukins and the progression of Crohn's disease are controversial (reviewed in [57]).

Interestingly, there is no functional consequence of arfip mutations on synaptic vesicle release as determined quantal analysis of evoked release which is similar to the phenotype of sec5 mutants (Table 2) (Murthy et al., 2003).

While the exact consequence of ALS mutations on FUS and TDP-43 cytoplasmic localization remains unknown, increasing evidence suggests that ALS mutant FUS and TDP-43 are associated with increased neuronal cell death in vitro and disease severity in ALS patients (18– 27).

The consequences of mutations depend on the environment.