Functional analysis of FH variants of uncertain significance using Caenorhabditis elegans model
We showed that <i>C. elegans</i> could be reliably used for the reclassification of VUS in <i>FH</i>. Importantly, our proposed methodology based on the nematode's quick generation cycle, ease of strain creation, and phenotypic readouts opens the door for future studies on <i>FH</i> using <i>C. elegans</i>, including genotype-phenotype correlation and background effects.
Authors
- Maja Tarailo‐Graovac (ORCID: https://orcid.org/0000-0002-4472-8584)
- Stephen D. Ferris
- Ivette M. Menéndez‐Perdomo (ORCID: https://orcid.org/0000-0002-9129-570X)
Institutions
- University of Calgary (CA)
- Alberta Children's Hospital (CA)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.103469
- Primary Topic
- Genetics, Aging, and Longevity in Model Organisms
- Type
- article
- Field-Weighted Citation Impact
- 0.00