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Article

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.

Investigative ophthalmology & visual science - 1 Jan 2017

Wieben Eric D, Aleff Ross A, Tang Xiaojia, Butz Malinda L, Kalari Krishna R, Highsmith Edward W, Jen Jin, Vasmatzis George, Patel Sanjay V, Maguire Leo J, Baratz Keith H, Fautsch Michael P

Abstract excerpt

Purpose: To identify RNA missplicing events in human corneal endothelial tissue isolated from Fuchs' endothelial corneal dystrophy (FECD). Methods: Total RNA was isolated and sequenced from corneal endothelial tissue obtained during keratoplasty from 12 patients with FECD and 4 patients undergoing keratoplasty or enucleation for other indications. The length of the trinucleotide repeat (TNR) CTG in the...

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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: 28118661
DOI: 10.1167/iovs.16-20900
PMCID: PMC5270622

Genes

TCF4
TNR
FGFR2
MBNL1
MBNL2
NUMA1
PPFIBP1

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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Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.PMID 28118661Read ↗

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TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.Semantic proximity Read ↗

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Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseSemantic proximity Read ↗

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