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

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.

Molecular diagnosis & therapy - 1 Nov 2025

Alayed Bushra, Siddiqui Salina, Anand Seema, Inglehearn Chris F, Watson Christopher M, Ali Manir

Abstract excerpt

INTRODUCTION: Trinucleotide repeat expansion in CTG18.1, in intron 2 of TCF4 (MIM *602272, #613267), is the main cause of Fuchs endothelial corneal dystrophy (FECD), accounting for around 75% of cases in Caucasians. CTG18.1 repeat expansion has typically been detected in peripheral blood genomic DNA by Southern blotting or short tandem repeat polymerase chain reaction (STR-PCR) combined with triplet-repeat primed...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Fuchs' Endothelial Dystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to TCF4 gene

Share to High-Throughput Nucleotide Sequencing

Share to Nanopore Sequencing

Share to Polymerase Chain Reaction

Share to Transcription Factor 4

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 40720054
DOI: 10.1007/s40291-025-00803-8
PMCID: PMC12578760

Genes

TCF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.PMID 40720054Read ↗

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeatSemantic proximity Read ↗

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

Targeted sequencing with single-molecule molecular inversion probes highlights a gap in understanding the cause of Fuchs endothelial corneal dystrophy.Semantic proximity Read ↗

Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping.Semantic proximity Read ↗

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

Tissue-Specific Dynamics of <i>TCF4</i> Triplet Repeat Instability Revealed by Optical Genome MappingSemantic proximity Read ↗

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

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

Transethnic replication of association of CTG18.1 repeat expansion of TCF4 gene with Fuchs' corneal dystrophy in Chinese implies common causal variant.Semantic proximity Read ↗

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

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.Semantic proximity Read ↗

Longitudinal Study of TCF4 CTG Trinucleotide Repeat Length and Disease Severity in Fuchs' Endothelial Corneal Dystrophy.Semantic proximity Read ↗

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