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Contrary to overexpression of the wild‐type allele, the overexpression of the CHCHD10P34S mutant led to a marked defect of the mitochondrial cristae maintenance characterized by loss and disorganization of cristae morphology (Appendix Fig S7).
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Consistent with a marked defect in formation of a secondary vascular network, many capillaries within the primary vascular plexus of β8 /– mice failed to sprout into the deeper retinal layers and instead displayed glomeruloid-like tufts comprising both endothelial cells and pericytes (Fig. 3C).
LTP assessment of APP695/swe mice revealed a marked defect in the late phase of LTP (Fig. 10B), in the absence of significant deficits in the presynaptic component of the synaptic transmission (data not shown).
The K5::miR-24 animals display a marked defect in HF morphogenesis, with thinning of hair coat and altered HF structure.
In various populations, polymorphisms in the HNF1A gene are a common cause of maturity-onset diabetes of the young (MODY) [ 7- 10], which is characterized by early age of onset and a marked defect in insulin secretion.
The SDS and CFW hypersensitivity of hwp1−/− imply a marked defect in cell wall composition and structure, which may also explain the filamentation defect.
By knocking out the β-cell insulin receptor or downstream proteins of the insulin signaling cascade in rodents, Kulkarni et al. (22– 24) demonstrated a marked defect in insulin expression and secretion resembling that of T2DM.
Our results show a marked defect in DDR activation with DMC1 depletion and combination of a DMC1 inhibitor with treatment modalities that target various DNA repair pathways could effectively target GBM cells.
The defects in Vav1-deficient thymic development, including a marked defect in DN3-DN4 transition, were completely reversed by Cbl inactivation, accompanied by enhanced phosphorylation of PLC-γ1 and ERKs in response to pre-TCR/TCR cross-linking of Vav1-/-Cbl-/ DP thymocytes.
In support of this idea, contraction of circumferential actin belt in lining epithelial cells is critical for closure of the neural tube [31], and Syt-null mouse embryos have a marked defect in neural tube closure (Kimura, 2009).
Consistent with the temperature-dependent cell morphology changes in the pmt mutants, both pmt1A and pmt4A strains displayed a marked defect in growth at elevated temperatures (Figure 5).
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