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These max mutations cause defective biosynthesis of strigolactones; a group of carotenoid-derived hormones that inhibit shoot branching [ 20, 21].
These mutations cause defective interactions in the tubulin heterodimer assembly or in the three-dimensional conformation that will impair the action of these proteins, necessary for central nervous system development [ 37, 38].
Using our established cell and knockout/transgenic mouse models resembling human NS harboring the R246Q or C321R mutation respectively, we have shown that both R246Q and C321R mutations cause defective secretion of laminin-521 from podocytes to the GBM [ 49, 50].
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ATM and ATR mutation causes defective response to DNA damage, resulting in disorders, such as ataxia-telangiectasia and ATR-Seckel syndrome, respectively, which are characterized by developmental defects, DNA damage sensitivity and cancer predisposition (8, 94– 94).
With disrupted structures, mt tRNAs mutations would cause defective translation and impaired mt protein synthesis, leading to defects in OXPHOS systems.
Williams tackled her dissertation project with enthusiasm, attempting to identify mutations that cause defective TRD in yeast.
Consequently, the SIL1 mutations are likely to cause defective cortical development leading to MR of MSS.
Consequently, mutations in this region may cause defective integration of dimers into the thick filament leading to accumulation of unassembled MyHC.
This novel mutation was, however, shown to cause defective receptor shedding, and is associated with reduced levels of sTNFR1 (soluble TNFR1).
We have implemented Veridical, a software program that automates confirmation of mRNA splicing mutations by comparing sequence read-mapped expression data from samples containing variants that are predicted to cause defective splicing with control samples lacking these mutations.
A recently described lptE mutation (lptE613) causes defective LPS transport and leads to increased antibiotic sensitivity (Malojčić et al., 2014).
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