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Article

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

PLoS genetics - 1 Nov 2008

Libby Randell T, Hagerman Katharine A, Pineda Victor V, Lau Rachel, Cho Diane H, Baccam Sandy L, Axford Michelle M, Cleary John D, Moore James M, Sopher Bryce L, Tapscott Stephen J, Filippova Galina N, Pearson Christopher E, La Spada Albert R

Abstract excerpt

At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the instability process remain undefined. Genomic frag...

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Source

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Identifiers

PMID: 19008940
DOI: 10.1371/journal.pgen.1000257
PMCID: PMC2573955

Genes

CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19008940-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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