Therefore, preservation of mechanisms regulating cell responses independent of amyloid-β protein precursor processing may account for the milder phenotype induced by the PSEN1 K239N mutation.
Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers.
Overall, our patient differed from the previous one for a milder phenotype.
The reduced apoptosis rate of Dsp mutants could be responsible for the milder phenotype, especially with regard to cell dispersion.
AFF2 contains an unstable (CCG n repeat whose expansions are responsible for a milder phenotype of non-syndromic mental impairment.
Molecular and cell biological assays allowed us to critically assess a recent hypothetical explanation for the milder phenotype in R133C-GFP mice.
Three mechanisms are responsible for the milder phenotype of β-TI: inheritance of a mild or silent beta-chain mutation, coinheritance of α-thalassemia, and hereditary persistence of HbF, δβ-thalassemia, and G γ XMN1 polymorphism [ 2– 4].
The PNFA syndrome is more anatomically and pathologically heterogeneous, with the predominant involvement of more dorsal and lateralized peri-Sylvian networks [21] perhaps accounting for its milder phenotype here.
To add new insights into the pathogenesis of muscular dystrophy and to determine the basis for the milder phenotype observed in adult mdx mice, compared with young mice and to human patients, we crossed the mdx mice with IL-6 overexpressing mice, which accumulate high levels of circulating IL-6 since early phases of life (34).
The reason for the milder phenotype of the Nestin-Cre PEX5 mutants is not immediately clear, given the use in both cases of the same Nestin-Cre transgenic animals and the similar phenotypes of the PEX5 and PEX13 knockout mice (Baes et al., 1997; Maxwell et al., 2003); however, one plausible explanation is a difference in the efficiency of gene disruption achieved in each case.
