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Collectively, these observations, together with the Spry2 null mouse phenotype, suggested that Muenke syndrome patients and a mouse model of the Muenke syndrome mutation (28) should undergo comprehensive auditory phenotyping.
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Indeed, the comparatively mild mouse phenotype suggests that the most important function of ADAM9 may be in areas of high photoreceptor density or associated with cones.
The severity and pleiotropy of the Bcl2−/− mouse phenotype suggests that human stapes defects are unlikely to be caused by inherited, null alleles of Bcl2.
Overall, we found good agreement between the model's prediction and reported mouse phenotypes, suggesting that the mouse reconstruction has similar quality properties as Recon 1.
This is in contrast to the mouse phenotype and suggests that the roles of the CatSper complex in normal physiology differ between mouse and human.
Differential expression experiments reported here and known mouse knockout phenotypes suggest Rab22a and Gnas as candidate genes for the Fatq2b QTL, though, additional experiments are required to confirm any gene as the causal gene for Fatq2b.
These rescued mice have a normal phenotype, suggesting that the unedited GluR2 isoform does not have an essential biological function.
Both MST1−/− and MST2−/− mice show normal retinal phenotype, suggesting that single deficiency of MST1 or MST2 does not affect the normal retinal development.
Furthermore, Mmp-13-null mice exhibit defects in growth-plate cartilage with expanded hypertrophic chondrocyte zones and increased trabecular bone as well as increased interstitial collagen accumulation, with combinatorial Mmp-9 and Mmp-13 knockout mice displaying an exacerbated phenotype, suggesting synergy between these two proteases in cartilage and bone formation [ 7, 8].
Double Nck1 and Nck2-knockout mice die in early embryonic stage, whereas singly Nck1 or Nck2 deleted mice do not possess any phenotype, suggesting a redundant function of these two molecules in mice [ 16].
Targeted inactivation of the VEGF-A gene in mouse lung causes an emphysematic phenotype suggesting that VEGF also plays critical roles in alveolar maintenance [ 5].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com