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Transgenic mice carrying a mutated human UNC119 transgene develop fundus lesions, display abnormalities in ribbon synapses and abnormal ERG responses, suggesting that retinal degeneration might be caused by defects in trans-synaptic transmission (Kobayashi et al., 2000).
In particular, mice with a deletion of TGFβR2 in chondrocytes display abnormalities in the axial skeleton, including bifurcation of the xiphoid process, abnormal morphogenesis of the C1, C2 vertebrae, and malformation of the vertebral transverse processes, which are not present in Tak1col2 mice (Serra et al, 1997; Baffi et al, 2004).
The relevance of this is underscored by clinical findings that IBD patients have an increased risk of thromboembolic complications and display abnormalities in thrombin generation, platelet activation and function [52, 53].
Similarly, psychiatric patients can display abnormalities in the expression of cytokines and neurotrophic factors.
Several genetically-modified animals have been reported to display abnormalities in the body wall region.
Previous studies demonstrated that APP mice display abnormalities in synaptic transmission and long-term potentiation (LTP) [16], [17], [18], [19].
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Overall, 31% (n = 42) of Ppt1- embryos display abnormality at stage 12.
Glioma cells have been reported to display abnormality in one or more genes responsible for regulating cell-cycle progression.
To investigate the molecular components in thermotactic plasticity, we conducted a forward genetic screen and isolated aho-3(nj15) mutants that display abnormality in thermotactic plasticity (Mohri et al. 2005).
Saccharomyces deficient in the components of the TREX2 complex displayed abnormalities in cell proliferation and cell cycle control, but abnormal expression of individual components of TREX2 results in different phenotypes in mammalian cells.
Finally, studies with isolated, explanted bladder urothelial cells from BPS/IC patients have displayed abnormalities consistent with the histopathologic findings, including decreased cell proliferation, abnormal gene expression, and abnormal function as compared to bladder urothelial cell explants from normal controls.
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