Evidence map›Paper›PMID 40287469›Full record

ArticleScientific reports2025

Comprehensive analysis of splicing variants in corneal endothelial cells of patients with Fuchs endothelial corneal dystrophy.

Taichi Yuasa, Yuichi Tokuda, Masakazu Nakano, Kei Tashiro, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Noriko Koizumi, Naoki Okumura

Abstract read
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In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Taichi YuasaDepartment of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, 610-0394, Japan.
Yuichi TokudaDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Masakazu NakanoDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Kei TashiroDepartment of Genomic Medical Sciences, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Theofilos TourtasDepartment of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.
Ursula Schlötzer-SchrehardtDepartment of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.
Friedrich KruseDepartment of Ophthalmology, University of Erlangen-Nürnberg, Erlangen, Germany.
Noriko KoizumiDepartment of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, 610-0394, Japan.
Naoki OkumuraDepartment of Biomedical Engineering, Faculty of Life and Medical Sciences, Doshisha University, Kyotanabe, 610-0394, Japan. nokumura@mail.doshisha.ac.jp.

Funding

Japan Agency for Medical Research and Development JP22ek0109590Japan Society for the Promotion of Science 18K09464Japan Society for the Promotion of Science 21K06840
6 · The paper itself

Abstract

Trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene represents the most prevalent genetic risk factor for Fuchs endothelial corneal dystrophy (FECD) and may cause dysfunction of splicing regulators. We investigated differential alternative splicing (DAS) events in corneal endothelial cells (CECs) from FECD patients with and without TCF4 TNR expansion through RNA-Seq analysis. We identified distinct splicing profiles among control subjects, FECD patients with TNR expansion, and FECD patients without TNR expansion. Skipped Exon events constituted approximately 50% of all DAS events across all comparisons, with the remaining events distributed among alternative 3' splice site, alternative 5' splice site, mutually exclusive exon, and retained intron categories. Motif analysis in FECD patients with TNR expansion revealed several RNA-binding proteins, including MBNL1, as potential regulators of these splicing alterations. Computational analysis demonstrated that 34% of Skipped Exon events in the TNR expansion group significantly impacted protein structure. This comprehensive analysis revealed distinct alternative splicing signatures in FECD, particularly in cases with TNR expansion, suggesting a crucial role for aberrant splicing in FECD pathogenesis.

Indexed as

Alternative SplicingFuchs' Endothelial DystrophyTranscription Factor 4Endothelium, CornealHumansRNA-Binding ProteinsMBNL1 protein, humanMBNL2 protein, humanRNA-Binding ProteinsTCF4 protein, humanTranscription Factor 4

Identifiers

PMID40287469
PMCPMC12033338

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.