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The first study based on overexpression of N-terminal half truncated Tau bearing ΔK280 mutation showed an increase in Tau aggregation [8].
In vitro characterization of expressed smooth muscle myosin that contains the R403Q missense mutation showed an increase in actin filament velocity in a motility assay and an enhanced actin-activated ATPase activity [15].
All patients (with the exception of the one carrying the R210H mutation) showed an increase in cerebellar perfusion.
Three more unrelated cases with an APP A713T mutation showed an onset age between 73 and 82 years [ 8].
The patient harboring a pathogenic mutation showed an enzymatic activity of 2.6 nmol/h/spot, below the normal values.
In the present study, one of the strains with the promoter mutation showed an RFLP pattern different from those of the other two, suggesting different sources of infection.
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Measurement of the AGA enzyme activities in the patient fibroblasts with either the T122K or AGU-Fin mutation showed a significantly reduced enzyme activity, consistent with AGU (Fig. 1B). Figure 1: Characterization of the novel T122K aspartylglucosaminuria mutation.
All 13 cases of colorectal carcinoma with a KRAS mutation showed a gross polypoid configuration, compared to no KRAS mutation in the colorectal carcinomas with ulcerative configuration.
Fibroblast cells derived from DOA patients with missense mutation showed a significant impairment of oxidative phosphorylation (OXPHOS), mostly mediated by complex I [27].
Patients with a T790M mutation showed a more favorable prognosis.
Splice site predictions for the c.436C>T mutation showed a new PLP1 splice donor site at c.434.
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CEO of Professional Science Editing for Scientists @ prosciediting.com