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There was either no defect or only a mild defect of SHM.
Electrophysiological tests showed evidence of synaptic activity in differentiated neurons carrying non-pathogenic mtDNA mutations or in those that caused a mild defect of respiratory activity.
In the present study, we have performed an analysis of the mitochondrial metabolism of neurons containing mtDNA mutations that generate either a mild defect of complex IV or a severe defect of complex I (Kirby et al., 2009).
Arg770Glu and Val863Ala, corresponding to human p.Gln968Glu and p.Val1106Ala POLG variants, respectively, are located in the polymerase domain and show a rather mild defect of mtDNA stability (measured by a moderate increase in petite frequency).
The phenomenon of mild defect of DSB repair in the absence of H2AX could be explained by the fact that H2AX is not absolutely needed for the concentration of recognition factors MRN and ATM at the damaged sites (Yuan and Chen 2010).
A possible explanation for the relative rarity of this CMS is that carriers of two MUSK mutations that result in only mild defect of MuSK protein function may not express clinical symptoms, whereas the presence of a mutation that results in severe deficiency of MuSK function in each of the alleles is probably not compatible with life.
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The last group, LCHd, corresponds to severe microcephaly, thick cortex, grades 1 2 agyria, diffuse cerebellar hypoplasia of both hemispheres and vermis as well as mild defects of the brainstem.
In combination with doxorubicin, Brd4-depleted mice demonstrated slightly impaired weight gain relative to control mice over the 7-day time period following the doxorubicin treatment, suggestive of a mild defect in full recovery of intestinal function.
sir2 null cells showed a mild defect in silencing of the transgene, such that while sufficient ura4+ silencing occurs for cells to grow on FOA, there was enhanced growth on media lacking uracil, indicating some increase in the expression of the centromeric reporter.
However, S79A and S79E mutations caused a mild defect in the ability of Sso1p to complement the temperature-sensitive growth phenotype of sso2-1 sso1Δ cells.
Both phenotypes suggest a mild defect in the ossification of the hip in the AtrxCol2Cre mice.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com