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From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.
biochemistry-and-cell-biologybiological-sciencesbiomedical-and-clinical-sciencesdna-methylationgenetics
Pathogenic variation can alter gene output at multiple levels, from chromatin accessibility and enhancer-promoter communication to RNA processing, translation and protein turnover. The diagnostic challenge is not to catalogue these layers, but to determine which regulatory mechanism is plausible for
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