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Given this dual role of chaperones, diseases caused by the misfolding and aberrant trafficking of ion channels (referred to here as ion-channel-misfolding diseases) can be regarded as a consequence of insufficiency of the pro-folding chaperone activity and/or overefficiency of the chaperone ERAD role.
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It is tempting to speculate that the astrocytic swelling phenotype observed with male M5R−/− mice is a consequence of cerebrovascular insufficiency.
The metabolic derangements characteristic of diabetes in general is primarily a consequence of relative insufficiency of insulin secretion and/or insulin action [ 3].
In most cases, the affected children die within the first 6 months of life as a consequence of vascular insufficiency causing end-organ damage.
Activation of the p53 pathway following inhibition of Pol I transcription in tumour cells is not a consequence of ribosome insufficiency, suggesting that the cells are responding directly to perturbations in rDNA transcription [ 174].
These results argue that some tumors are a consequence of haplo-insufficiency or trans-dominant effects of the mutant allele.
On the other hand, T2DM develops as a consequence of relative insulin insufficiency and is characterized by hyperinsulinemia and insulin resistance for compensation.
Brain injury, as a consequence of cardio-respiratory insufficiency, is the most common cause of morbidity in premature and term infants.
A potentially important distinguishing feature is the facial dysmorphism exhibited by the twins, which is not seen in MECP2 mutation-positive RTT individuals, but it remains to be seen whether these dysmorphic features are a consequence of PTPN4 haplo-insufficiency.
Beriberi is a consequence of thiamine deficiency.
This is a consequence of the severe renal insufficiency associated with plasma cell leukemia.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com