Evidence map›Paper›PMID 32225107›Full record

ArticleInternational journal of molecular sciences2020

In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.

Mubeen Khan, Stéphanie S Cornelis, Riccardo Sangermano, Iris J M Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W J Collin, Frans P M Cremers

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.8field-weighted citation impact, top 31% 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

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. IntronicJournal of genetics · 2023
    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

10 authors at 2 institutions in 2 countries.

Mubeen KhanDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Stéphanie S CornelisDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-7619-927X
Riccardo SangermanoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Iris J M PostDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Amber Janssen GroesbeekDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Jan AmsuDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Christian GilissenDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Alejandro GarantoDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0001-5721-1560
Rob W J CollinDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.ORCID 0000-0003-4347-6503
Frans P M CremersDepartment of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Radboud University Nijmegen · NLMassachusetts Eye and Ear Infirmary · US

Funding

Fighting Blindness Ireland grant 2017Foundation Fighting Blindness USA grant no. PPA-0517-0717-RADRetina UK grant no. GR591
6 · The paper itself

Abstract

Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that other sequence motifs influence the outcome. We investigated whether splice defects due to human-inherited-disease-associated variants in noncanonical splice-site sequences in

Indexed as

ExonsRNA Splice SitesATP-Binding Cassette TransportersDystrophinHEK293 CellsHumansMembrane ProteinsRNA SplicingABCA4 protein, humanATP-Binding Cassette TransportersDMD protein, humanDystrophinMembrane ProteinsRNA Splice SitesTMC1 protein, human5′ and 3′ splice sitesinterdependencyPre-mRNAsplicing

Identifiers

PMID32225107
PMCPMC7177576
OpenAlexW3013093729

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.