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Article

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.

EBioMedicine - 1 Oct 2024

Zarouchlioti Christina, Efthymiou Stephanie, Facchini Stefano, Dominik Natalia, Bhattacharyya Nihar, Liu Siyin, Costa Marcos Abreu, Szabo Anita, Sadan Amanda N, Jun Albert S, Bugiardini Enrico, Houlden Henry, Cortese Andrea, Skalicka Pavlina, Dudakova Lubica, Muthusamy Kirithika, Cheetham Michael E, Hardcastle Alison J, Liskova Petra, Tuft Stephen J, Davidson Alice E

Abstract excerpt

BACKGROUND: Fuchs endothelial corneal dystrophy (FECD) is the most common repeat-mediated disease in humans. It exclusively affects corneal endothelial cells (CECs), with ≤81% of cases associated with an intronic TCF4 triplet repeat (CTG18.1). Here, we utilise optical genome mapping (OGM) to investigate CTG18.1 tissue-specific instability to gain mechanistic insights. METHODS: We applied OGM to a diverse range of...

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Identifiers

PMID: 39278108
DOI: 10.1016/j.ebiom.2024.105328
PMCID: PMC11419830

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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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