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Article

Transcription-associated R-loop formation across the human FMR1 CGG-repeat region.

PLoS genetics - 1 Apr 2014

Loomis Erick W, Sanz Lionel A, Chédin Frédéric, Hagerman Paul J

Abstract excerpt

Expansion of a trinucleotide (CGG) repeat element within the 5' untranslated region (5'UTR) of the human FMR1 gene is responsible for a number of heritable disorders operating through distinct pathogenic mechanisms: gene silencing for fragile X syndrome (>200 CGG) and RNA toxic gain-of-function for FXTAS (∼ 55-200 CGG). Existing models have focused almost exclusively on post-transcriptional mechanisms, but...

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Share to 5' Untranslated Regions
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24743386
DOI: 10.1371/journal.pgen.1004294
PMCID: PMC3990486

Genes

FMR1

Provenance

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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