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Analysis of Sharp-2/Dec1 single mutant mice provided evidence for a role as a circadian output regulator in the periphery and in modulating phase of clock gene expression [14], [15].
The genetic definition of the X-linked CD40L and NEMO deficiencies (which were determined before the generation of the corresponding engineered mutant mice) provided clear evidence of the essential role of the CD40 signaling pathway in antibody maturation.
Furthermore, several studies using Aire-deficient mutant mice provided an important evidence that transcription factor Aire plays a critical role in regulating the ectopic (promiscuous) expression of tissue-specific antigens (TSAs) in the mTECs of thymus (Anderson et al., 2002; Ramsey et al., 2002; Liston et al., 2003).
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Naturally occurring mutant mice provide an excellent model for the study of genetic malformations of the inner ear.
We describe how Nf1 mutant mice provide one example in which disrupting a tumor suppressor gene has been used to generate an informative murine leukemia model.
Since defined abnormalities in such mutant mice provide important clues to the as yet often poorly understood functional roles of many gene products, this overview includes a corresponding, annotated table of mutant mice with pigmentation alterations.
The lamin-B1 mutant mice provide evidence for a broad and nonredundant function of lamin-B1 in mammalian development[36].
Mutant mice provide an invaluable tool for studying the development and organization of the mammalian visual system [1].
The Scarb1I179N mutant mice provide a model for studying SCARB1 in a pure B6 background and may help further clarify differences in phenotypes from Scarb1−/− and Pdzk1−/− mice.
Hence, the generation of ngr2 and ngr1/2 deletion mutant mice provides unique animal models that permit investigation into the relative contribution of these receptors in MAG-dependent neurite growth inhibition.
Thus Scn8a N1768D mutant mice provide a robust model of a rare form of severe childhood epileptic encephalopathy.
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