Evidence map›Paper›PMID 30466729›Full record

ReviewTrends in genetics : TIG2019

RNA Splicing and Disease: Animal Models to Therapies.

Matías Montes, Brianne L Sanford, Daniel F Comiskey, Dawn S Chandler

Abstract readReview
In one paragraph

Review in Trends in genetics : TIG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers.

0numbers the graph read from it
0cells of the map it votes in
132citing papers in PubMed
11.0field-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

132 citing papers in PubMed, 227 citations in OpenAlex.

  1. Article
  2. RNA splicing in health and disease.Molecular biomedicine · 2026
    Review
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72 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

4 authors at 1 institution in 1 country.

Matías MontesMolecular, Cellular, and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Brianne L SanfordCenter for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Daniel F ComiskeyMolecular, Cellular, and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA.
Dawn S ChandlerMolecular, Cellular, and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: chandler.135@osu.edu.
Nationwide Children's Hospital · US

Funding

Training in neuromuscular diseasesT32NS077984 · NINDS · OHIO STATE UNIVERSITY · PI GUTTRIDGE, DENIS C, MENDELL, JERRY ROY · 2012 to 2016
$946k
Using TSUNAMI in a sensitized mouse to generate an intermediate SMA modelR21NS084187 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI CHANDLER, DAWN S · 2014 to 2015
$403k
Targeting insulin receptor splicing for treatment of rhabdomyosarcomaR21CA195324 · NCI · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI CHANDLER, DAWN S · 2016 to 2017
$360k
SMN2 Silent Mutation Knock-in: New SMA Mouse Model-Better TherapiesR21NS054690 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI CHANDLER, DAWN S · 2007 to 2008
$347k
SMA mouse models: splicing manipulation and therapeutic SMN replacementF31NS079032 · NINDS · RESEARCH INST NATIONWIDE CHILDREN'S HOSP · PI DOMINGUEZ, CATHERINE · 2012 to 2015
$142k
NCI NIH HHS R21 CA195324NINDS NIH HHS F31 NS079032NINDS NIH HHS R21 NS054690NINDS NIH HHS R21 NS084187NINDS NIH HHS T32 NS077984
6 · The paper itself

Abstract

Alternative splicing of pre-mRNA increases genetic diversity, and recent studies estimate that most human multiexon genes are alternatively spliced. If this process is not highly regulated and accurate, it leads to mis-splicing events, which may result in proteins with altered function. A growing body of work has implicated mis-splicing events in a range of diseases, including cancer, neurodegenerative diseases, and muscular dystrophies. Understanding the mechanisms that cause aberrant splicing events and how this leads to disease is vital for designing effective therapeutic strategies. In this review, we focus on advances in therapies targeting splicing, and highlight the animal models developed to recapitulate disease phenotypes as a model for testing these therapies.

Indexed as

Molecular Targeted TherapyAlternative SplicingAnimalsDisease Models, AnimalGenetic Diseases, InbornHumansMutationRNA PrecursorsRNA SplicingRNA Precursorsanimal modelsdiseaseRNA splicing

Identifiers

PMID30466729
PMCPMC6339821
OpenAlexW2901874474

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.