Exact(3)
Protein expression was severely reduced by E498D and improved by R520Q, yet variants containing both mutations led to improved specific activity and enzyme expression, but with loss of solubility and the formation of inclusion bodies.
Furthermore, both mutations led to an identical slight increase in the KD for Hsp70.
Both mutations led to similar mean levels of PCA+UCA (0.87 ± 0.39 and 1.09 ± 0.62, respectively; two-sided Student's t-test, P > 0.05).
Similar(57)
Both mutations lead to complete IL-12Rβ1 deficiency and render the patient's cells completely unresponsive to IL-12.
Both mutations lead to the same phenotype.
Both mutations lead to reduced eIF3h mRNA, suggesting that MommeD12 and MommeD38 are null alleles.
Since both mutations are novel, it remains to be clarified whether one or the combination of both mutations leads to the WS2 phenotype.
Although both mutations lead to the constitutive activation of the receptor, only presence of FLT3/ITD has consistently been associated with clinical outcome.
Another German family was subsequently identified harboring an autosomal recessive splice site mutation c.102+ 2T>C in intron 1 [Müller et al., 2006]; both mutations lead to drastically reduced levels of expression of CAV3 in the skeletal muscle.
Using biochemical assays we demonstrated that both of these mutations led to significantly reduced Sin1 phosphorylation at the T86 site, as these mutations impair the canonical AGC kinase consensus recognition motif "RxRxxpS/pT" (Alessi et al., 1996; Manning and Cantley, 2007).
In contrast introduction of both sid2 and eds1 mutations led to increased plant health in acd6, dnd1 and syp121 syp122 compared to introduction of only one mutation.
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