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Previous studies have shown that mtDNA mutations might be implicated in pathogenesis and/or their prognosis in various malignancies [ 12- 14].
Interestingly, a rare inherited genomic duplication spanning the gene, including the disease-associated CpG identified in this study, was reported recently in a single case of SZ (32), suggesting that over-expression of the gene may be implicated in pathogenesis.
Although we are aware of possible sources of variability from the data collection of experimental procedures, we still have confidence about our conclusions because of the strong and consistent correlation between DV and DC across all four independent datasets, and that some significant DV genes are known to be implicated in pathogenesis.
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The receptor for advanced glycation end products, RAGE, has been implicated in pathogenesis of many diseases.
Peroxisome proliferator-activated receptor γ (PPARγ), an essential transcription factor for adipogenesis, has been implicated in pathogenesis of osteoporosis.
Reactive oxygen species (ROS) have been implicated in pathogenesis of many diseases, including cancer, mutagenesis, Alzheimer's, AIDS, etc. [8].
Although the exact cause of IBD is still unclear, dysfunctional immunoregulation involving overproduction of inflammatory cytokines such as TNF-α, and IL-6 have been implicated in pathogenesis.
ETS proteins are proto-oncogenes that have been implicated in pathogenesis [8].
In several other autoimmune disease Tregs have been implicated in pathogenesis.
Splicing errors are implicated in pathogenesis of various diseases, including neurological diseases and malfunctions [101].
In the case of AD, specific genes and proteins have been implicated in pathogenesis (reviewed in [8], [9]).
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