Sentence examples for mutations including a from inspiring English sources

With this tool, we had already shown the necessity of the eight conserved histidine residues for alkylglycerol mono-oxygenase activity [ 4], and we extend this analysis in the present study describing 26 further mutations, including a residue which, when mutated, attenuates tetrahydrobiopterin affinity to the enzyme 18-fold.

The notoriously irascible Getz fell out with Byrd over royalties and their partnership stalled, but the music stayed on a roll for a couple of years, passing through various mutations including a big band that mostly sounded unsuited to the idiom's delicacy, despite some haunting interplay between Getz and trombonist Bob Brookmeyer.

The average individual carries numerous loss and gains of mutations, including a few lethals (Shendure and Akey 2015), and all of us are mutants in our own way (Kaiser 2014).

These phenotypic changes are associated with the accumulation of additional mutations including a P145L substitution mutation in sigH, a positive regulator of sporulation [63], [64] and an A13P mutation in scoC, a negative regulator of sporulation [65].

Furthermore, and in contrast to introduction of a glutamate at position 56 which is lethal [3], [33], all of the above single and double mutations – including a glutamate at position 57 – could support life, as we obtained viable mutant yeast clones with similar frequencies (Figure 2).

Sanger sequencing revealed four pathogenic germline mutations, including a novel splicing mutation (c.48+1G>A).

In the UK, there is a highly regulated environment for IVF techniques and there has been very detailed consideration of the proposals to prevent transmission of mtDNA mutations including an extensive public enquiry which was broadly supportive of the technique.

The two mutations included a change from threonine (T) to isoleucine (I) at position 2, and a change from alanine (A) to threonine (T) at position 22 (Figure 4).

Possible candidates to undergo such mutations include a multitude of gene products described in studies of human lung tumors [53] [62], some of these studies have implicated the EGFR/IL-6/Stat3 pathway in the pathogenesis of lung adenocarcinomas [43], [49], [50], [61] [63].

The phenotypes associated with PRRT2 mutations included a high frequency of migraine and hemiplegic migraine.

These mutations included a missense mutation W218* in the tagatose-6-phosphatate kinase, which is encoded by the lacC gene.