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These observations suggest that the H486R mutant has lost the ability to inhibit NF-κB activation induced by TNFα.
Interestingly, at these two pH values, the Asp282-Cys283 peptide bond in the H251A mutant was maintained in cis, but in the H284A mutant, this peptide bond was in trans, indicating that the H251A mutant still retained GlcNAc binding activity, but the H284A mutant has lost its binding activity for GlcNAc (Table 2).
These data suggest that the Hxt36-N367I mutant has lost the ability to transport D-glucose.
Analysis by tryptic digestion and thermal denaturation assays demonstrated that this mutant has lost the ability to bind calcium at the concentrations used in our functional assays.
The 22/23 mutant has lost its transcriptional activation activity, but the 14/19 mutant retains the activity of the wild-type protein (Lin et al, 1994).
The peach evergrowing (evg) mutant has lost six tandem-duplicated dormancy-associated MADS-box (DAM) genes and does not form terminal buds or enter endodormancy under short day conditions [ 2].
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At day 5 post-inoculation, mice infected with the sigS mutant had lost on average only 4.4% (−13.3% to +2.2%, IQR) of their body weight, whereas SH1000 infected mice had a median weight loss of 10.4% (−20.2% to −5%, IQR) (p<0.05, Fig. 6B).
This mutant had lost the phenotype of leaf serrations (Fig. 4a).
All mutants except the p.Cys359Phe mutant had lost much of their substrate selectivity, mainly driven by increased Km for tyrosine and lowered Km for phenylalanine.
This recurrent, loss of function mutation (c.2194G > A, p.Asp732Asn or D732N upon a previous classification), has already been reported in several CAIS patients [ 11] and its deleterious character has been previously demonstrated, as functional analysis revealed that this mutant had lost 95% of the wild-type transcriptional activity [ 11].
Using an Adsorbosphere SAX column to resolve InsP5 [5-OH] from InsP5 [1/3-OH] and InsP5 [2-OH], we confirmed that the R183D mutant had lost the ability to attack the 4/6-position (compare Figures 1A and 1C), but retained the ability to attack the 5- and 1/3-positions.
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