Evidence map›Paper›PMID 18992329›Full record

ReviewBiochimica et biophysica acta2009

Alternative splicing and disease.

Jamal Tazi, Nadia Bakkour, Stefan Stamm

Open access · greenAbstract readReview
In one paragraph

Review in Biochimica et biophysica acta, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 303 papers.

0numbers the graph read from it
0cells of the map it votes in
303citing papers in PubMed
13.1field-weighted citation impact, top 1% 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

303 citing papers in PubMed, 542 citations in OpenAlex.

  1. Article
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  15. DecodingbioRxiv : the preprint server for biology · 2025
    Article
  16. Review
  17. Article
  18. Article
  19. VirDiG: aBioinformatics advances · 2025
    Article
  20. Review

243 more citing papers are in PubMed but not listed here.

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

3 authors at 2 institutions in 2 countries.

Jamal TaziUniversity of Montpellier II, Institute of Molecular Genetics, Centre Nationale de Recherche Scientifique, 1919 Route de Mende, France.
Nadia Bakkour
Stefan Stamm
Université de Montpellier · FRUniversity of Kentucky · US

Funding

UNDERSTANDING THE MOLECULAR BASIS OF EPIGENETIC TRANSCRIPTIONAL SILENCINGP20RR020171 · NCRR · UNIVERSITY OF KENTUCKY · PI LOUIS HERSH, LOUIS HERSH LOUIS HERSH · 2004 to 2011
$16.5M
Tau missplicing caused by RNA processing proteins located on chromosome 21R21HD056195 · NICHD · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI ANDREADIS, ATHENA · 2007 to 2008
$379k
NCRR NIH HHS P20 RR020171NICHD NIH HHS R21HD056195-01
6 · The paper itself

Abstract

Almost all protein-coding genes are spliced and their majority is alternatively spliced. Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection. Here, we discuss well-studied examples that show how a disturbance of this balance can cause human disease. The rapidly emerging knowledge of splicing regulation now allows the development of treatment options.

Indexed as

Alternative SplicingAnimalsBase SequenceDiseaseDysautonomia, FamilialExonsFemaleHyperlipoproteinemia Type IIMaleModels, GeneticMolecular Sequence DataMuscular Atrophy, SpinalNeoplasmsNucleic Acid ConformationProgeriaRNA PrecursorsRNA PrecursorsRNA, Small Nucleolar

Identifiers

PMID18992329
PMCPMC5632948
OpenAlexW2012284471

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.