Evidence map›Paper›PMID 40720037›Full record

ArticleMethods in molecular biology (Clifton, N.J.)2025

Restoration of Dysferlin After Exon 32 Skipping in Patient Cells.

Florian Barthélémy, Sébastien Courrier, Marc Bartoli

Abstract read
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In one paragraph

Article in Methods in molecular biology (Clifton, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Florian BarthélémyMicrobiology Immunology and Molecular Genetics, University of California Los Angeles, Los Angeles, CA, USA.
Sébastien CourrierAix Marseille Univ; INSERM, MMG, U1251, Marseille, France.
Marc BartoliAix Marseille Univ; INSERM, MMG, U1251, Marseille, France. marc.bartoli@univ-amu.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dysferlinopathies stand as uncommon genetic disorders that impact muscle function, stemming from mutations within the DYSF gene. Recent research has unveiled that exon 32 of DYSF is dispensable for dysferlin's functional properties. In this study, we introduce an approach to observe exon 32 skipping at both the RNA and protein levels, using an antisense oligonucleotide, within cells obtained from a patient affected with dysferlinopathy.

Indexed as

DysferlinExonsMembrane ProteinsMuscle ProteinsMuscular Dystrophies, Limb-GirdleHumansMutationOligonucleotides, AntisenseDysferlinDYSF protein, humanMembrane ProteinsMuscle ProteinsOligonucleotides, AntisenseDysferlinExon skippingMuscular dystrophiesRNA editingTherapies

Identifiers

PMID40720037

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.