Evidence map›Paper›PMID 31213135›Full record

ArticleRNA biology2019

High-throughput analysis revealed mutations' diverging effects on

Přemysl Souček, Kamila Réblová, Michal Kramárek, Lenka Radová, Tereza Grymová, Pavla Hujová, Tatiana Kováčová, Matej Lexa, Lucie Grodecká, Tomáš Freiberger

Open access · bronzeAbstract read
In one paragraph

Article in RNA biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.6field-weighted citation impact, top 33% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

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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 3 institutions in 2 countries.

Přemysl SoučekMedical Genomics RG, Central European Institute of Technology, Masaryk University , Brno , Czech Republic.ORCID 0000-0002-9985-2531
Kamila RéblováMedical Genomics RG, Central European Institute of Technology, Masaryk University , Brno , Czech Republic.ORCID 0000-0002-6453-2386
Michal KramárekMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation , Brno , Czech Republic.
Lenka RadováMedical Genomics RG, Central European Institute of Technology, Masaryk University , Brno , Czech Republic.
Tereza GrymováMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation , Brno , Czech Republic.ORCID 0000-0002-9869-800X
Pavla HujováMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation , Brno , Czech Republic.
Tatiana KováčováMedical Genomics RG, Central European Institute of Technology, Masaryk University , Brno , Czech Republic.
Matej LexaFaculty of Informatics, Masaryk University , Brno , Czech Republic.ORCID 0000-0002-4213-5259
Lucie GrodeckáMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation , Brno , Czech Republic.ORCID 0000-0002-4979-0352
Tomáš FreibergerMedical Genomics RG, Central European Institute of Technology, Masaryk University , Brno , Czech Republic.ORCID 0000-0001-6532-7053
Central European Institute of Technology · CZInstitut de Transplantation Urologie en Nephrologie · FRMasaryk University · CZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for the parallel high-throughput evaluation of different mutations by next-generation sequencing. In our model system, all exonic and six intronic positions of the

Indexed as

Alternative SplicingExonsMutationCell LineComputational BiologyHigh-Throughput Nucleotide SequencingHumansMolecular Dynamics SimulationMutagenesisNucleic Acid ConformationProtein BindingRNA, Small NuclearRNA Splice SitesSurvival of Motor Neuron 1 ProteinRNA, Small NuclearRNA Splice SitesSMN1 protein, humanSurvival of Motor Neuron 1 ProteinU1 small nuclear RNA5′sscryptic splice sitesSMN1splicing-affecting mutationU1 snRNA

Identifiers

PMID31213135
PMCPMC6779402
OpenAlexW2950896242

What OpenQuestion holds

Textmetadata
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.