Current challenges in understanding the role of enhancers in disease

JB Zaugg, P Sahlén, R Andersson… - Nature structural & …, 2022 - nature.com
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors
to phenotypic variation, evolution and disease. There is growing evidence that enhancer
dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range
of human diseases referred to as enhanceropathies. Such mechanisms often underlie the
susceptibility to common diseases, but can also play a direct causal role in cancer or …

Current challenges in understanding the role of enhancers in disease

D Plewczyński, S Spicuglia… - Nature Structural …, 2022 - repozytorium.uw.edu.pl
Enhancers play a central role in the spatiotemporal control of gene expression and tend to
work in a cell-type-specific manner. In addition, they are suggested to be major contributors
to phenotypic variation, evolution and disease. There is growing evidence that enhancer
dysfunction due to genetic, structural or epigenetic mechanisms contributes to a broad range
of human diseases referred to as enhanceropathies. Such mechanisms often underlie the
susceptibility to common diseases, but can also play a direct causal role in cancer or …
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