Evidence map›Paper›PMID 31091803›Full record

ArticleGenes2019

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent

Iris Barny, Isabelle Perrault, Christel Michel, Nicolas Goudin, Sabine Defoort-Dhellemmes, Imad Ghazi, Josseline Kaplan, Jean-Michel Rozet, Xavier Gerard

Open access · goldAbstract readCase Reports
In one paragraph

Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

11 citing papers in PubMed, 22 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. HGG advances · 2023
    Article
  5. Alternative RNA Splicing in the Retina: Insights and Perspectives.Cold Spring Harbor perspectives in medicine · 2023
    Review
  6. Article
  7. Antisense RNA Therapeutics: A Brief Overview.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  8. Article
  9. Article
  10. Suppression of Nonsense Mutations by New Emerging Technologies.International journal of molecular sciences · 2020
    Review
  11. Review
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 at 4 institutions in 2 countries.

Iris BarnyLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. iris.barny@institutimagine.org.
Isabelle PerraultLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. isabelle.perrault@inserm.fr.ORCID 0000-0002-8560-1379
Christel MichelLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. christel.michel@agroparistech.fr.
Nicolas GoudinCell Imaging Core Facility of the Structure Fédérative de Recherche Necker, INSERM US24/CNRS UMS3633, Imagine and Paris Descartes University, 75015 Paris, France. nicolas.goudin@inserm.fr.
Sabine Defoort-DhellemmesService D'exploration de la Vision et Neuro-Ophtalmologie, Pôle D'imagerie et Explorations Fonctionnelles, CHRU de Lille, 59037 Lille, France. sabine.defoort@chru-lille.fr.
Imad GhaziDepartment of Ophthalmology, IHU Necker-Enfants Malades, 75015 Paris, France. imad.ghazi@aphp.fr.
Josseline KaplanLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. josseline.kaplan@inserm.fr.
Jean-Michel RozetLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. jean-michel.rozet@inserm.fr.ORCID 0000-0001-7951-7886
Xavier GerardLaboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France. xavier.gerard@fa2.ch.
Inserm · FRCentre Hospitalier Universitaire de Lille · FRDélégation Paris 5 · FRInstitut Necker Enfants Malades · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in

Indexed as

Antigens, NeoplasmCell Cycle ProteinsCodon, NonsenseCytoskeletal ProteinsExonsEye AbnormalitiesEye Diseases, HereditaryHumansMaleNeoplasm ProteinsOligonucleotides, AntisenseRetinaRetinal DystrophiesRNA SplicingAntigens, NeoplasmCell Cycle ProteinsCep290 protein, humanCodon, NonsenseCytoskeletal ProteinsNeoplasm ProteinsOligonucleotides, AntisenseAON-mediated exon skippingCEP290Cilia elongationFlanders founder c.4723A &gtLeber congenital amaurosis and allied retinal ciliopathiesspontaneous nonsense correctionT nonsense mutation

Identifiers

PMID31091803
PMCPMC6562928
OpenAlexW2945622303

What OpenQuestion 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 OpenQuestion graph.