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The proband carrying the deleterious MT1-I49N mutation exhibited a delayed sleep onset confirmed with actimetry.
The combined Q226L/G228S mutation exhibited a strikingly similar binding pattern to that shown by the H3 HA, with binding predominately localized to the apical surface of non-ciliated cells (Figure 4G versus 4B).
It was shown that actively contracting cardiomyocytes expressing GFP-myosin (green fluorescent protein fused to an embryonic myosin heavy chain) carrying the R403Q mutation, exhibited a significant decrease in organization of the contractile cytoskeleton of embryonic chicken cardiomyocytes [36].
F2 plants carrying only the ssadh-3 mutation in the homozygous state exhibited a phenotype reminiscent of ssadh mutants (Figure 2A; plants #10 and #22) while plants homozygous for the pop2-4 mutation exhibited a phenotype reminiscent of pop2 mutants (data not shown).
As aforementioned, the frequency of TPI null alleles is much higher as the rare incidence of TPI deficiency [5] [9], and in vitro measurements of a mutant TPI variant purified from E. coli demonstrated that the purified TPI protein carrying the Phe240Leu mutation exhibited a 6-fold higher activity than expected from the measurements performed with the patient erythrocyte extract [40].
The latter finding is consistent with our data, where BRAF mutation exhibited a 6.2% frequency.
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Remarkably, ABAleon2.15 harboring the PYR1H115A mutation exhibited an apparent affinity for -ABA of ∼ 30 µM, which was 50-fold reduced compared to the -ABA affinity (K′d ∼ 0.6 µ M) suggesting, that PYR1H115 has an important function in ABA stereospecificity.
Mice heterozygous for the Brachyury T mutation exhibit a variable short-tailed phenotype [58] while other mutations such as Brachyury T137 have a kinked or bent tail [59].
Moreover, subjects bearing the R225W mutation exhibit a ∼90% increase of skeletal muscle glycogen content and a ∼30% decrease in intramuscular triglyceride (IMTG).
For instance, negative interactions, such as synthetic lethal and sick pairs, are inferred when a double mutation exhibits a more severe phenotypic effect than expected [1], [39].
The gain-of-function allele hopTum-l encodes a constitutively active form of the Hopscotch (Hop) Janus kinase (JAK) and larvae carrying this mutation exhibit a melanotic tumor phenotype including extensive lamellocyte differentiation [14].
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