Sentence examples for mutations in distinct from inspiring English sources

The different CLN subtypes are caused by mutations in distinct CLN genes encoding proteins important for lysosomal function and cellular homeostasis [ 4].

Based on these findings, we predicted that missense alleles encoding Top2 proteins with mutations in distinct functional domains might display interallelic complementation.

Similarly, numerous genetic diseases harbouring mutations in distinct components involved in ribosome biogenesis, collectively referred as "ribosomopathies", are prone to developing cancer [ 9].

Finally, the authors demonstrate that independently evolved yeast clones have mutations in distinct sets of genes, which do not appear related in any obvious way.

Mutations in distinct regions of the RCL of the Z variant of α1-antitrypsin at P14P12 and P4–are able to significantly affect accumulation of polymers in cells.

We were also able to identify the effect of mutations in distinct sectors with variations in the clinical signs of a disease.

While it is not clear how and why these different gain-of-function mutations result in distinct disorders, it seems that PE causing mutations typically cause a hyperpolarizing shift in the voltage dependence of channel activation and a delay in deactivation of active channels upon return to non-activating membrane voltages.

A simple model would predict that mutations in any mtAATS would result in general disruption of mitochondrial translation and similar pathologies but, interestingly, mtAATS mutations result in distinct clinical pathologies that are specific to the synthetase affected (Konovalova and Tyynismaa, 2013).

We hypothesized that different RPGR mutations result in distinct RP phenotypes.

However, this explanation does not support the observation that GNA11 mutations tend to be more frequent in advanced tumors 18. Taking this into account calls for another explanation, namely, that the two mutations arose in distinct lineages of tumor cells.

19 Of the mutations identified in distinct regions of KCNJ2 in ATS patients, a dominant negative effect of the mutant allele can be found in both trafficking and non-trafficking defective channels, contributing to loss of Kir2.1 function.