Evidence map›Paper›PMID 36789274›Full record

ArticleMolecular therapy. Nucleic acids2023

CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.

Javier Poyatos-García, Águeda Blázquez-Bernal, Marta Selva-Giménez, Ariadna Bargiela, Jorge Espinosa-Espinosa, Rafael P Vázquez-Manrique, Anne Bigot, Ruben Artero, Juan Jesús Vilchez

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy. Nucleic acids, 2023. 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
1.5field-weighted citation impact, top 18% 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, 10 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

9 authors at 4 institutions in 2 countries.

Javier Poyatos-GarcíaCentre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, 46026 Valencia, Spain.
Águeda Blázquez-BernalTranslational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjasot, 46100 Valencia, Spain.
Marta Selva-GiménezCentre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, 46026 Valencia, Spain.
Ariadna BargielaNeuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), 46026 Valencia, Spain.
Jorge Espinosa-EspinosaTranslational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjasot, 46100 Valencia, Spain.
Rafael P Vázquez-ManriqueCentre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, 46026 Valencia, Spain.
Anne BigotSorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, 75013 Paris, France.
Ruben ArteroTranslational Genomics Group, University Institute for Biotechnology and Biomedicine (BIOTECMED), University of Valencia, Burjasot, 46100 Valencia, Spain.
Juan Jesús VilchezCentre for Biomedical Network Research on Rare Diseases (CIBERER), U763, CB06/05/0091, 46026 Valencia, Spain.
Centre for Biomedical Network Research on Rare Diseases · ESUniversitat de València · ESInserm · FRInstituto de Investigación Sanitaria La Fe · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A single-nucleotide deletion in the stop codon of the nuclear import receptor transportin-3 (TNPO3), also involved in human immunodeficiency virus type 1 (HIV-1) infection, causes the ultrarare autosomal dominant disease limb-girdle muscular dystrophy D2 (LGMDD2) by extending the wild-type protein. Here, we generated a patient-derived

Indexed as

autophagycellular modelCRISPRgene editingLGMDD2MT: RNA/DNA Editingmuscle dysfunctionmyoblastmyopathyTNPO3

Identifiers

PMID36789274
PMCPMC9898580
OpenAlexW4320473719

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.