Evidence map›Paper›PMID 32615329›Full record

ReviewCurrent opinion in genetics & development2020

Poison exons in neurodevelopment and disease.

Gemma L Carvill, Heather C Mefford

Open access · greenAbstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

39 citing papers in PubMed, 55 citations in OpenAlex.

  1. TDP-43: [GU]-ardian of the transcriptome.Molecular neurodegeneration · 2026
    Review
  2. Article
  3. Alternative splicing of theProceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Article
  5. Review
  6. Review
  7. Ultra-Conserved Poison Exons Enable Rapid and Safe Splicing Factor Gene Expression Switches: A Hypothesis.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  8. Review
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. RNA Sequencing in Disease Diagnosis.Annual review of genomics and human genetics · 2024
    Review
  17. Article
  18. Article
  19. Article
  20. 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

2 authors at 2 institutions in 1 country.

Gemma L CarvillDepartment of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Heather C MeffordDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. Electronic address: hmefford@u.washington.edu.
Northwestern University · USUniversity of Washington · US

Funding

A Genomic Approach to EpilepsyR01NS069605 · NINDS · UNIVERSITY OF WASHINGTON · PI MEFFORD, HEATHER C. · 2010 to 2019
$4.9M
Cell-free DNA sequencing approaches to define the genetic etiology of unexplained epilepsyDP2NS111506 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CARVILL, GEMMA LOUISE · 2018 to 2018
$2.4M
An epigenomic approach to identifying noncoding mutations in epilepsyR00NS089858 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI CARVILL, GEMMA LOUISE · 2016 to 2018
$744k
NINDS NIH HHS DP2 NS111506NINDS NIH HHS R00 NS089858NINDS NIH HHS R01 NS069605
6 · The paper itself

Abstract

Poison exons are naturally occurring, highly conserved alternative exons that contain a premature termination codon. Inclusion of a poison exon in a transcript targets the transcript for nonsense mediated decay, decreasing the amount of protein produced. Poison exons are proposed to play an important role in tissue-specific expression, development and autoregulation of gene expression. Recently, several studies that performed systematic investigations of alternative splicing in the brain have highlighted the abundance of transcripts containing poison exons, some of which are spliced in a cell type-specific manner. Pathogenic variants in or near poison exons that result in aberrant splicing have been identified in several genes including FLNA, SCN1A and SNRPB. Improved understanding of the role of poison exons in development and disease may present opportunities to solve previously undiagnosed disease and to develop therapeutic approaches in the future.

Indexed as

Alternative SplicingExonsGene Expression RegulationMutationNonsense Mediated mRNA DecayAnimalsHumansNeurodevelopmental Disorders

Identifiers

PMID32615329
PMCPMC8042789
OpenAlexW3039306493

What OpenQuestion holds

Textmetadata
LicenceTDM
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.