Evidence map›Paper›PMID 42414676›Full record

ArticleCellular and molecular life sciences : CMLS2026

Retina-specific long non-coding RNAs associated with inherited retinal disease genes.

Emma Delanote, Karla Alejandra Ruiz-Ceja, Alfredo Dueñas Rey, Dalila Capasso, Manon Bouckaert, Martina Sofia, Martina Di Guida, Mario Failli, Victor López Soriano, Hanne Lenaerts and 18 more

Abstract read
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In one paragraph

Article in Cellular and molecular life sciences : CMLS, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

28 authors.

Emma Delanote *Center for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Karla Alejandra Ruiz-Ceja *Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Alfredo Dueñas Rey *Center for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Dalila Capasso *Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Manon BouckaertCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Martina SofiaTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Martina Di GuidaTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Mario FailliTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Victor López SorianoCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Hanne LenaertsCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Kelly LemeireCenter for Inflammation Research, Vlaams Instituut voor Biotechnologie (VIB), Ghent, Belgium.
Birthe DorgauBiosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Jasper VerwiltDepartment of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Sarah De KeulenaerNXTGNT, Ghent University, Ghent, Belgium.
Filip Van NieuwerburghNXTGNT, Ghent University, Ghent, Belgium.
Manon HuizingAntwerp Biobank, Antwerp University Hospital, Antwerp, Belgium.
Sarah GlorieuxTissue Bank, Ghent University Hospital, Ghent, Belgium.
Pieter-Jan VoldersCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Eva D'haeneCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Elfride De BaereCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Majlinda LakoBiosciences Institute, Newcastle University, Newcastle upon Tyne, UK.
Katrien RemautGhent Research Group on Nanomedicines, Lab of General Biochemistry and Physical Pharmacy, Ghent University, Ghent, Belgium.
Nicolina Cristina SorrentinoTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Pieter MestdaghCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Diego di BernardoTelethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy.
Steve LefeverCenter for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium.
Frauke Coppieters *Center for Medical Genetics Ghent (CMGG), Ghent University, Ghent, Belgium. Frauke.Coppieters@UGent.be.ORCID http://orcid.org/0000-0001-7224-0992
Sandro Banfi *Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei 34, Pozzuoli, 80078, Italy. banfi@tigem.it.

Funding

Bijzonder Onderzoeksfonds UGent BOF22/DOC/229Fondation JED Fondation JEDFonds Voor Research In Oftalmologie Fonds Voor Research In OftalmologieFonds Wetenschappelijk Onderzoek 1SD8924NFonds Wetenschappelijk Onderzoek G0ADI26NFoundation Fighting Blindness BR-CMM-0623-0856-UGENTH2020 Marie Skłodowska-Curie Actions 813490Italian Ministry of Research (MUR) Solve-RETNext Generation EU PE00000006 CUP460 H93C22000660006-MNESYSTIGEM TGM22GM03TIGEM TGM23MFU01
6 · The paper itself

Abstract

Long non‑coding RNAs (lncRNAs) are increasingly recognized as important regulatory molecules, yet their roles remain largely unexplored in many tissues. This study aimed to identify and characterize lncRNAs involved in human retinal biology and inherited retinal disease (IRD), a leading cause of blindness worldwide. By integrating retinal tissue-specificity, location in IRD gene topologically associating domains (TADs), and co-expression analyses, we identified a set of 126 lncRNAs that are potentially regulating IRD genes. In-depth characterization of eleven selected lncRNAs, one of which is novel (LINC03128), allowed us to dissect their transcriptional units and cell type-specific expression, and revealed significant associations with visual function. Furthermore, knockdown of LINC03127 in human retinal explants and retinal organoids resulted in marked downregulation of photoreceptor-related gene pathways and pointed to a potential regulatory interaction with ABCA4, a major IRD gene located in cis. Collectively, our study provides the first systematic assessment of lncRNAs in the human retina and establishes a comprehensive resource of candidate regulatory lncRNAs with potential relevance to retinal function and disease.

Indexed as

RetinaRetinal DiseasesRNA, Long NoncodingATP-Binding Cassette TransportersGene Expression ProfilingGene Expression RegulationHumansABCA4 protein, humanATP-Binding Cassette TransportersRNA, Long NoncodingCo-expression analysisHuman retinaInherited retinal diseaseLong non-coding RNATissue-specificity analysis

Identifiers

PMID42414676
PMCPMC13627516

What OpenQuestion holds

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Registered trials

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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.