Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.

Investigative ophthalmology & visual science - 1 Jun 2018

Winkler Nelson S, Milone Margherita, Martinez-Thompson Jennifer M, Raja Harish, Aleff Ross A, Patel Sanjay V, Fautsch Michael P, Wieben Eric D, Baratz Keith H

Abstract excerpt

Purpose: RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively. We prospectively evaluated DM1 patients and their families for phenotypic FECD and report the analysis of CTG expansion in the TCF4 gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Endothelium, Corneal
Share to Fuchs' Endothelial Dystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myotonic Dystrophy

Share to Myotonin-Protein Kinase

Share to Pedigree

Share to Transcription Factor 4

Share to Trinucleotide Repeat Expansion

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 30025114
DOI: 10.1167/iovs.17-23160
PMCID: PMC6005624

Genes

TNR
TCF4
DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.PMID 30025114Read ↗

Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic DystrophySemantic proximity Read ↗

Correlation of Severity of Fuchs Endothelial Corneal Dystrophy With Triplet Repeat Expansion in TCF4.Semantic proximity Read ↗

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

Gene expression in the corneal endothelium of Fuchs endothelial corneal dystrophy patients with and without expansion of a trinucleotide repeat in TCF4.Semantic proximity Read ↗

Dysregulation of theTCF4Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal DystrophySemantic proximity Read ↗

Effect of Trinucleotide Repeat Expansion on the Expression ofTCF4mRNA in Fuchs' Endothelial Corneal DystrophySemantic proximity Read ↗

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

RNA Toxicity and Missplicing in the Common Eye Disease Fuchs Endothelial Corneal DystrophySemantic proximity Read ↗

Comprehensive assessment of genetic variants within TCF4 in Fuchs' endothelial corneal dystrophy.Semantic proximity Read ↗

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.