Evidence map›Paper›PMID 42116549›Full record

ArticleEuropean journal of clinical investigation2026

Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies.

Carla Aresi, Francesca Tonelli, Concetta Mazzotta, Valentina Serpieri, Cecilia Masiero, Camilla Torriani, Simona Villani, Enza Maria Valente, Antonella Forlino

Abstract read
In one paragraph

Article in European journal of clinical investigation, 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

9 authors.

Carla AresiDepartment of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.ORCID https://orcid.org/0009-0003-3838-9170
Francesca TonelliDepartment of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
Concetta MazzottaDepartment of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.
Valentina SerpieriDepartment of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.ORCID https://orcid.org/0000-0002-3553-0066
Cecilia MasieroDepartment of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
Camilla TorrianiDepartment of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
Simona VillaniDepartment of Public Health and Experimental and Forensic Medicine, Unit of Biostatistics and Clinical Epidemiology, University of Pavia, Pavia, Italy.
Enza Maria ValenteDepartment of Molecular Medicine, General Biology and Medical Genetics Unit, University of Pavia, Pavia, Italy.ORCID https://orcid.org/0000-0002-0600-6820
Antonella ForlinoDepartment of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.

Funding

ERA-NET EUR002Ministero della Salute RF-2019-12369368Ministero dell'Istruzione, dell'Università e della Ricerca 20223C8C5BMinistero dell'Istruzione, dell'Università e della Ricerca 2023-2027Regione Lombardia 3776/202000
6 · The paper itself

Abstract

A zebrafish morpholino knockdown model targeting ahi1 enables efficient phenotypic assessment of ciliopathy-related defects and functional evaluation of variants of uncertain significance. This assay clarifies the impact of VUSs, supporting zebrafish morphants as a reliable platform for validating ciliopathy-associated genetic variants.

Indexed as

CiliopathiesZebrafishZebrafish ProteinsAnimalsDisease Models, AnimalGene Knockdown TechniquesMorpholinosPhenotypeMorpholinosZebrafish ProteinsciliopathiesmorpholinoVUSszebrafish

Identifiers

PMID42116549
PMCPMC13161512

What OpenQuestion holds

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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.