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We were able to assess the role of cofactor-activated phosphorylation by taking advantage of the demonstration that the SP domain mutations characterized in this study block this hyperphosphorylation event but do not perturb the ability of Gro/TLE1 to functionally interact with DNA-binding proteins and become recruited to DNA.
Fig. 6 also shows that most mutations characterized in sltB affect highly conserved residues among SltB homologues.
The structural localization of mutations characterized in this study was mapped to the 3D model of the porcine MCAD monomer (Fig. 1).
The vast majority of mutations characterized in human patients with mastocytosis occur at codon 816 in exon 17, which encodes a portion of the kinase domain of KIT [ 19, 24, 25].
Mutations can increase Cav1.3 calcium current activity through different biophysical mechanisms as exemplified by the two mutants studied here and in somatic gain-of-function mutations characterized in aldosterone-producing adenomas (22,23).
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Adaptative immune responses may be impaired in several ways, including the natural mutations characterized by blocks in T cell development that have been described in mice and humans.
For example, the SSR53 locus, which contains an imperfect (CT) motif, showed complex mutations characterized by variation in the repeat-motif length and point mutations in both the repeat motif and the flanking sequences (data not shown).
Null mutations were characterized in AtSS2, which codes for SSII, and mutant lines were compared to lines lacking SSIII and to an Atss2, Atss3 double mutant.
Mutations are characterized in Table 1.
The novel CYP11A1 mutations were characterized in vitro and in silico.
Mutations were characterized in the gene CARD15 for a few small families with the Blau syndrome [ 11, 12].
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