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The second section presents an overview of most known phenotypes identified for sphingolipid gene mutants, presented with the intention of illuminating not yet discovered connections outside and inside of the field.
The fact that only male mutants presented with metabolic changes suggested that rejuvenated olfactory neurogenesis and function entails relevant long-term alterations of glucose and lipid metabolism.
One of the male Kcne2 tmutantsa mutants presented with a gastric adenoma (Fig. 2F, box) previously observed in aged Kcne2-deficient mice [6] and Kcnq1 mutants [16].
Compared with wild-type (WT) mice, Ltbp3-null mutants presented with an overall reduction in craniofacial size and modifications of the shape of various parts of the craniofacial skeleton.
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Its rearrangement was responsible for the phenotype of mouse mutants presenting with limb defects [27].
Both OFD-affected individuals and ta mutants present with facial clefting.
Male null mutants present with early onset of symptoms rapidly progressing in severity and a short life span of only 8 12 weeks [4,5].
Additionally, Orb2 mutants present with disrupted mitotic spindle alignment; results from this study suggest that it may serve to promote the localization of aPKC [ 56].
The double-mutant mice presented with an accentuated cardiac pathology and died of congestive heart failure in the first 2 months of life.
LOXL3 knockout mice, which was different from COL2A1 and COL11A1 gene mutant mice, presented with spinal deformity but no dwarfism characteristic of chondrodysplasia.
In a desminopathy due to the heterozygous p.Lys240del mutation, an aberrant and more acidic spectrum of desmin spots was visible [ 158, 159], whereas the p.Asp214_Glu245del desmin mutant species presented with a more alkaline pI [ 35].
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