Evidence map›Paper›PMID 36830662›Full record

ArticleBiomolecules2023

Identification of Novel Coloboma Candidate Genes through Conserved Gene Expression Analyses across Four Vertebrate Species.

Violeta Trejo-Reveles, Nicholas Owen, Brian Ho Ching Chan, Maria Toms, Jeffrey J Schoenebeck, Mariya Moosajee, Joe Rainger, Genomics England Research Consortium

Open access · goldAbstract read
In one paragraph

Article in Biomolecules, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
2.9field-weighted citation impact, top 11% of its field
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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Genes · 2026
    Article
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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

8 authors at 3 institutions in 1 country.

Violeta Trejo-RevelesRoslin Institute, R(D)SVS, Easter Bush Campus, University of Edinburgh, Edinburgh EH25 9RG, UK.
Nicholas OwenDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.ORCID 0000-0001-5598-6274
Brian Ho Ching ChanRoslin Institute, R(D)SVS, Easter Bush Campus, University of Edinburgh, Edinburgh EH25 9RG, UK.
Maria TomsDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.
Jeffrey J SchoenebeckRoslin Institute, R(D)SVS, Easter Bush Campus, University of Edinburgh, Edinburgh EH25 9RG, UK.ORCID 0000-0003-4964-2138
Mariya MoosajeeDevelopment, Ageing and Disease, UCL Institute of Ophthalmology, London EC1V 9EL, UK.ORCID 0000-0003-1688-5360
Joe RaingerRoslin Institute, R(D)SVS, Easter Bush Campus, University of Edinburgh, Edinburgh EH25 9RG, UK.ORCID 0000-0003-1091-5100
Genomics England Research Consortium
Roslin Institute · GBThe Francis Crick Institute · GBMoorfields Eye Hospital NHS Foundation Trust · GB

Funding

Medical Research Council MR/S033165/1Wellcome TrustWellcome Trust 205174/Z/16/Z
6 · The paper itself

Abstract

Ocular coloboma (OC) is a failure of complete optic fissure closure during embryonic development and presents as a tissue defect along the proximal-distal axis of the ventral eye. It is classed as part of the clinical spectrum of structural eye malformations with microphthalmia and anophthalmia, collectively abbreviated to MAC. Despite deliberate attempts to identify causative variants in MAC, many patients remain without a genetic diagnosis. To reveal potential candidate genes, we utilised transcriptomes experimentally generated from embryonic eye tissues derived from humans, mice, zebrafish, and chicken at stages coincident with optic fissure closure. Our in-silico analyses found 10 genes with optic fissure-specific enriched expression:

Indexed as

ColobomaEye AbnormalitiesNeuropeptidesAnimalsEyeFemaleGene Expression ProfilingHomeodomain ProteinsHumansMembrane ProteinsMiceNerve Tissue ProteinsPregnancyZebrafishHomeodomain ProteinsMembrane ProteinsNerve Tissue ProteinsNeuropeptidesTENM3 protein, humanVax1 protein, mouseanophthalmiacolobomaeye developmentmicrophthalmiaoptic fissure closure

Identifiers

PMID36830662
PMCPMC9953556
OpenAlexW4319316667

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.