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Article

TCF4 Triplet Repeat Expansion and Nuclear RNA Foci in Fuchs' Endothelial Corneal Dystrophy.

Investigative ophthalmology & visual science - 26 Feb 2015

Mootha V Vinod, Hussain Imran, Cunnusamy Khrishen, Graham Eric, Gong Xin, Neelam Sudha, Xing Chao, Kittler Ralf, Petroll W Matthew

Abstract excerpt

PURPOSE: Expansion of the intronic CTG18.1 triplet repeat locus within TCF4 contributes significant risk to the development of Fuchs' endothelial corneal dystrophy (FECD) in Eurasian populations, but the mechanisms by which the expanded repeats result in degeneration of the endothelium have been hitherto unknown. The purpose of this study was to examine FECD endothelial samples for the presence of RNA nuclear...

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Source

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Identifiers

PMID: 25722209
DOI: 10.1167/iovs.14-16222
PMCID: PMC4373545

Genes

TCF4

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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