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The borders demonstrated preserved inner retinal layers with atrophy of the outer retina and choroidal hyperreflectivity from transmission defect.
At its borders, the inner retinal architecture showed improved definition, but the outer retinal layers displayed atrophy with increased transmission defect.
Full length rescue of the synaptic transmission defect is dose dependent, while the N-terminus of APL-1 is sufficient to rescue the molting and lethality phenotypes.
Using FTLs in a quartet mutant, which yields mature pollen tetrads, we determined that the pollen transmission defect of the eif3h-1 allele is due to a combination of reduced pollen germination and reduced pollen tube elongation.
The transmission defect was restricted to the spinal cord, as peripheral compound motor action potentials (CMAP) from the sciatic notch to the gastrocnemius muscle did not differ with regard to latency (P = 0.260) (Figure 4G) or amplitude (P = 0.477) (Figure 4H) between controls and mice receiving perforin-competent SCILs.
A subset of GMPPB-MDDG patients display a neuromuscular transmission defect, whereas other GMPPB-MDDG patients do not.
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These findings are consistent with previous studies showing that rollover movement defects occur independently of synaptic transmission defects (Bodily et al., 2001), and suggest that defective NMJ architecture impairs the muscle control that is required to coordinate the sequence of motor outputs to optimally produce a bilateral coordinated movement (twist-and-roll behavior).
Pak, C. et al. Human neuropsychiatric disease modeling using conditional deletion reveals synaptic transmission defects caused by heterozygous mutations in NRXN1.
Mutations in several subunits of eukaryotic translation initiation factor 3 (eIF3) cause male transmission defects in Arabidopsis thaliana.
The finding that voltage gated calcium channel delocalization correlated with the misregulation of ß-actin in cultured SMA motor neurons suggests that an improperly formed pre-synaptic actin cytoskeleton could contribute to synaptic transmission defects, thus hindering NMJ maturation in SMA mice [13].
In Drosophila, ATP6AP2 knockdown in photoreceptor neurons caused synaptic transmission defects.
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