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Authors: Khan, Essak S.
Danckwardt, Sven
Title: Pathophysiological role and diagnostic potential of R-loops in cancer and beyond
Online publication date: 8-Feb-2023
Year of first publication: 2022
Language: english
Abstract: R-loops are DNA–RNA hybrids that play multifunctional roles in gene regulation, including replication, transcription, transcription–replication collision, epigenetics, and preserving the integrity of the genome. The aberrant formation and accumulation of unscheduled R-loops can disrupt gene expression and damage DNA, thereby causing genome instability. Recent links between unscheduled R-loop accumulation and the abundance of proteins that modulate R-loop biogenesis have been associated with numerous human diseases, including various cancers. Although R-loops are not necessarily causative for all disease entities described to date, they can perpetuate and even exacerbate the initially disease-eliciting pathophysiology, making them structures of interest for molecular diagnostics. In this review, we discuss the (patho) physiological role of R-loops in health and disease, their surprising diagnostic potential, and state-of-the-art techniques for their detection.
DDC: 610 Medizin
610 Medical sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
Place: Mainz
Version: Published version
Publication type: Zeitschriftenaufsatz
Document type specification: Scientific article
License: CC BY
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Journal: Genes
Pages or article number: 2181
Publisher: MDPI
Publisher place: Basel
Issue date: 2022
ISSN: 2073-4425
Publisher DOI: 10.3390/genes13122181
Appears in collections:DFG-491381577-G

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