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Article

Genetic variations in G-quadruplex forming sequences affect the transcription of human disease-related genes.

Nucleic acids research - 11 Dec 2023

Lorenzatti Agustín, Piga Ernesto J, Gismondi Mauro, Binolfi Andrés, Margarit Ezequiel, Calcaterra Nora B, Armas Pablo

Abstract excerpt

Guanine-rich DNA strands can fold into non-canonical four-stranded secondary structures named G-quadruplexes (G4s). G4s folded in proximal promoter regions (PPR) are associated either with positive or negative transcriptional regulation. Given that single nucleotide variants (SNVs) affecting G4 folding (G4-Vars) may alter gene transcription, and that SNVs are associated with the human diseases' onset, we...

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Identifiers

PMID: 37930868
DOI: 10.1093/nar/gkad948
PMCID: PMC10711447

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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