PUBLICATION
Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies
- Authors
- Aresi, C., Tonelli, F., Mazzotta, C., Serpieri, V., Masiero, C., Torriani, C., Villani, S., Valente, E.M., Forlino, A.
- ID
- ZDB-PUB-260512-1
- Date
- 2026
- Source
- European journal of clinical investigation 56: e70220e70220 (Journal)
- Registered Authors
- Forlino, Antonella, Tonelli, Francesca
- Keywords
- VUSs, ciliopathies, morpholino, zebrafish
- MeSH Terms
- none
- PubMed
- 42116549 Full text @ Eur J Clin Invest
Citation
Aresi, C., Tonelli, F., Mazzotta, C., Serpieri, V., Masiero, C., Torriani, C., Villani, S., Valente, E.M., Forlino, A. (2026) Establishing a Zebrafish Functional Assay to Assess the Pathogenicity of Variants of Uncertain Significance in Ciliopathies. European journal of clinical investigation. 56:e70220e70220.
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.
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping