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In Mysm1−/− BM progenitors, reduction of ribosomal proteins Rpl11 and Rpl24 could contribute to the activation of p53-dependent pathways and, interestingly, belly spot and tail (Bst) mice, carrying a hypomorphic Rpl24 gene mutation, display a similar p53-dependent skin phenotype and other anomalies comparable to Mysm1−/− mice.
It was observed that the individuals homozygous for the 3020insC NOD2 mutation display a tendency towards reduced TNF-α production (Figure 4A) and a significant lower IL1-β production after stimulation with all three Yersinia spp (Figure 4B).
Patients with a BRAF mutation display a distinct expression pattern.
Patients that harbour this mutation display a phenotype as severe as patients with upstream disruption of the WDR62 gene [ 10].
More than 75% of tumors arising in women carrying a BRCA1 mutation display a triple-negative immunophenotype, a basal-like subtype, or both [ 33].
Mice homozygous for this allele die during embryogenesis with pleiotropic phenotypes, whereas mice heterozygous for this Glut1 mutation display a 66% decrease of GLUT1 protein in the brain, and have similar symptoms as the GLUT1 deficiency syndrome found in humans including epileptic events and impaired motor activity.
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Mice harboring a loss-of-function Alox12b mutation display an ARCI phenotype, and Alox12b knockout mice are born with red/shiny skin and rapidly desiccate and perish after birth.
Finally, the Arg301Glu mutation displayed a striking increase in the transition temperature when subjected to thermal denaturation.
Breast cancer cells containing the FYVE-CENT R1945Q mutation displayed a significant increase in cytokinetic profiles and bi - multinuclear phenotype.
The semi-viable Smnf01109 mutation displayed a moderate reduction in NMJ bouton numbers, consistent with its weakly hypomorphic nature (Figure 4C).
In contrast, double mutants containing the crwn1 allele paired with another crwn mutation displayed a reduced average chromocenter number with a weaker association with nuclear size.
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