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While unconfirmed to date for our mice, the global knockdown of Mecp2 may also compromise functions mediated by the prefrontal cortex; indeed, 100% of Rett patients analysed for frontal cortex expression presented with diminished Mecp2 [62].
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In human embryonic kidney 293 cells, Orai1 is glycosylated at an asparagine residue in the predicted second extracellular loop, but mutation of the residue does not compromise function.
We're always looking for stylish gym wear that doesn't compromise function.
Human bites in the maxillofacial region compromise function and aesthetics, resulting in social and psychological effects.
Hypermethylation of the rDNA may compromise function and affect protein synthesis [ 29].
Other missense mutations might only partially compromise function and behave as risk alleles [ 29].
Secondary musculoskeletal impairments such as contracture, deformity, and osteoporosis can occur and further compromise function.
Xerostomia has significant physical, social and psychological consequences which compromise function and quality of life.
DOI: http://dx.doi.org/10.7554/eLife.04871.018 10.7554/eLiFigure71.019 Figure 6 figure supplement 1. Mutations in conserved residues of PPP1R15A compromise function in vivo.
While their downregulation can certainly compromise function, the downregulation of PD-1 (programmed cell death-1) may result in a reduction of CD8+ inhibitory functions.
This damage consequently accumulates with age, initiating a series of events that over the time compromise function, leading to pathology and ultimately death [ 1, 6].
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