ReviewClinical reviews in allergy & immunology2025
Aberrant Enhancer Regulation, Phase Separation, and Autoimmune Diseases.
Review in Clinical reviews in allergy & immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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3 authors.
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Abstract
In the intricate regulation of gene expression, multiple regulatory elements play crucial roles. Among these, enhancers stand out as important elements that can boost the activity of promoters and make target genes more likely to be transcribed. Recent studies have revealed that sequence variations and gene rearrangements in enhancer regions could disrupt enhancer-promoter interactions, contributing to disease susceptibility and developmental abnormalities. Enhancer dysregulation is associated with numerous pathological conditions, spanning malignancies, autoimmune diseases, cardiovascular pathologies, and neurodegenerative ailments. Although the advent of high-throughput sequencing has enabled comprehensive enhancer profiling across the genome, elucidating their precise functional mechanisms continues to pose significant challenges. This review summarizes the structural features, identification methodologies, transcriptional regulatory mechanisms, and pathogenic contributions of enhancers in autoimmune diseases. Furthermore, we highlight emerging enhancer-based therapeutic strategies, offering novel insights for the targeted treatment of immune-related disorders. Additionally, we explore the role of phase separation in enhancer regulation and its potential association with autoimmune pathogenesis, proposing phase separation modulation as a promising therapeutic avenue.
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