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While we cannot rule out potential pleitropic effects, we suggest our results are consistent with an idea of compensatory changes in critical physiologies and behaviors stemming from defects in energy allocation, storage, or utilization.
A mouse knock-in model of the exon7/8 CLN3/battenin deletion reveals defects in the autophagy pathway, stemming from defects in autophagosome maturation (Cao et al., 2006).
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DMD, which mainly affects boys, stems from defects in the gene coding for dystrophin, a protein that helps strengthen and protect muscle fibers.
It appears that the pathogenesis of neurodegeneration in both type II GD and in PD stems from defects in proteostasis.
Several human brain diseases have been proposed to stem from defects in asymmetric cell division and spindle orientation [ 7].
Clearly, α is in inverse relation with the PL yield, thus supporting the interpretation of the PL superlinarity as stemming from defect-related effects.
This disease has a well-established molecular link, which stems from defects or mutations in either of two genes TSC1 or TSC2 that cause uncontrolled cell growth.
In situ hybridizations with an Xbra probe reveal that defects in gastrulation are not due to deficits in mesodermal patterning but likely stem from defects in convergent extension due to a disrupted FN matrix (Figure 2G I).
DC is a rare genetic disorder stemming from a defect in telomere maintenance.
We have previously shown that intracellular signaling from Clecsf8 can trigger particle phagocytosis (Graham et al., 2012; Miyake et al., 2013), and therefore examined the possibility that the phenotype of the Clecsf8−/− mice was stemming from a defect in mycobacterial uptake and clearance by leukocytes.
Another group of hereditary cancers comprises those that stem from inherited defects in DNA repair mechanisms.
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