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Article

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

American journal of human genetics - 5 Apr 2018

Zarouchlioti Christina, Sanchez-Pintado Beatriz, Hafford Tear Nathaniel J, Klein Pontus, Liskova Petra, Dulla Kalyan, Semo Ma'ayan, Vugler Anthony A, Muthusamy Kirithika, Dudakova Lubica, Levis Hannah J, Skalicka Pavlina, Hysi Pirro, Cheetham Michael E, Tuft Stephen J, Adamson Peter, Hardcastle Alison J, Davidson Alice E

Abstract excerpt

Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cell (CEC) model was...

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Topics

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Share to Endothelium, Corneal
Share to Fuchs' Endothelial Dystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Oligonucleotides, Antisense

Share to RNA Precursors

Share to RNA Processing, Post-Transcriptional

Share to RNA Splicing Factors

Share to Transcription Factor 4

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 29526280
DOI: 10.1016/j.ajhg.2018.02.010
PMCID: PMC5985359

Genes

MBNL1
TCF4
MBNL2

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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Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.PMID 29526280Read ↗

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