Evidence map›Paper›PMID 41751610›Full record

ArticleGenes2026

Characterisation of a Missense Variant of the

Tanushri Dargar, Alexandre Janin, Valérie Risson, Estèle Lafont, Camille Valla, Vincent Gache, Marie Abitbol

Abstract read
In one paragraph

Article in Genes, 2026. 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

7 authors.

Tanushri DargarUniversité de Lyon, VetAgro Sup, Campus Vétérinaire, 69280 Marcy-l'Etoile, France.ORCID 0000-0002-5996-7115
Alexandre JaninInstitut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France.
Valérie RissonInstitut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France.ORCID 0000-0002-6812-6297
Estèle LafontInstitut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France.
Camille VallaInstitut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France.
Vincent GacheInstitut NeuroMyoGène INMG-PGNM, CNRS UMR5261, INSERM U1315, Faculté de Médecine Rockefeller, Université Claude Bernard Lyon 1, 69008 Lyon, France.ORCID 0000-0002-2928-791X
Marie AbitbolUniversité de Lyon, VetAgro Sup, Campus Vétérinaire, 69280 Marcy-l'Etoile, France.ORCID 0000-0002-5615-7897

Funding

INSERM & CNRS ATIP-AVENIRVetAgro Sup Conseil Scientifique
6 · The paper itself

Abstract

BACKGROUND/

objectivesHuman induced pluripotent stem cell (hiPSC) models provide a unique platform for testing the effect of genomic variants identified in patients with inherited diseases. In Alström syndrome, a rare multisystem disorder mainly caused by nonsense mutations in the

methodsTo answer these questions, we generated an hiPSC line carrying the human

resultsThe introduction of the

conclusionsWe have generated and initiated the characterisation of the third

Indexed as

Alstrom SyndromeCardiomyopathiesCell Cycle ProteinsInduced Pluripotent Stem CellsMutation, MissenseAnimalsCatsCell DifferentiationHumansMyocytes, CardiacALMS1 protein, humanCell Cycle ProteinsALMS1Alström syndromecardiomyocytecardiomyopathycomparative geneticsfelineiPSCSphynx catspontaneous disease model

Identifiers

PMID41751610
PMCPMC12940813

What OpenQuestion holds

Textmetadata
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.