Evidence map›Paper›PMID 39395187›Full record

ArticleDatabase : the journal of biological databases and curation2024

StopKB: a comprehensive knowledgebase for nonsense suppression therapies.

Nicolas Haas, Julie Dawn Thompson, Jean-Paul Renaud, Kirsley Chennen, Olivier Poch

Abstract read
In one paragraph

Article in Database : the journal of biological databases and curation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

5 authors.

Nicolas HaasComplex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, University of Strasbourg, CRBS, 1 rue Eugène Boeckel, Strasbourg 67000, France.
Julie Dawn ThompsonComplex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, University of Strasbourg, CRBS, 1 rue Eugène Boeckel, Strasbourg 67000, France.
Jean-Paul RenaudUrania Therapeutics, 15 rue Neuve, Ostwald 67540, France.
Kirsley ChennenComplex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, University of Strasbourg, CRBS, 1 rue Eugène Boeckel, Strasbourg 67000, France.
Olivier PochComplex Systems and Translational Bioinformatics (CSTB), ICube laboratory-CNRS, University of Strasbourg, CRBS, 1 rue Eugène Boeckel, Strasbourg 67000, France.ORCID 0000-0002-7134-3217

Funding

Agence Nationale de la Recherche (ANR)Anr AGE21001MSAINSERMMYO-xIA ProjectUniversity of Strasbourg
6 · The paper itself

Abstract

Nonsense variations, characterized by premature termination codons, play a major role in human genetic diseases as well as in cancer susceptibility. Despite their high prevalence, effective therapeutic strategies targeting premature termination codons remain a challenge. To understand and explore the intricate mechanisms involved, we developed StopKB, a comprehensive knowledgebase aggregating data from multiple sources on nonsense variations, associated genes, diseases, and phenotypes. StopKB identifies 637 317 unique nonsense variations, distributed across 18 022 human genes and linked to 3206 diseases and 7765 phenotypes. Notably, ∼32% of these variations are classified as nonsense-mediated mRNA decay-insensitive, potentially representing suitable targets for nonsense suppression therapies. We also provide an interactive web interface to facilitate efficient and intuitive data exploration, enabling researchers and clinicians to navigate the complex landscape of nonsense variations. StopKB represents a valuable resource for advancing research in precision medicine and more specifically, the development of targeted therapeutic interventions for genetic diseases associated with nonsense variations. Database URL: https://lbgi.fr/stopkb/.

Indexed as

Codon, NonsenseDatabases, GeneticKnowledge BasesHumansNonsense Mediated mRNA DecayPhenotypeCodon, Nonsense

Identifiers

PMID39395187
PMCPMC11470752

What OpenQuestion holds

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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.