Characterization of selected LDLR substitutions in patients with familial hypercholesterolemia
The results provide functional evidence for the activity of selected <i>LDLR</i> variants in a cellular model based on confocal techniques that meets the ACMG/AMP variant classification criteria. These findings highlight the importance of <i>in vitro</i> assays in evaluating the functional impact of <i>LDLR</i> variants and contribute valuable insights for clinical interpretation and genetic counseling.
Authors
- Anna Janaszak‐Jasiecka (ORCID: https://orcid.org/0000-0002-2695-4756)
- Krzysztof Waleron (ORCID: https://orcid.org/0000-0002-9989-0984)
- Magdalena Chmara (ORCID: https://orcid.org/0000-0003-1430-8367)
- Leszek Kalinowski (ORCID: https://orcid.org/0000-0001-7270-1592)
- Jacek Jasiecki (ORCID: https://orcid.org/0000-0001-8192-6486)
- Bartosz Wasąg (ORCID: https://orcid.org/0000-0002-3634-7562)
- Monika Targońska (ORCID: https://orcid.org/0000-0002-5613-189X)
- Monika Żuk (ORCID: https://orcid.org/0000-0003-3600-5578)
Institutions
- Gdańsk University of Technology (PL)
- University of Gdańsk (PL)
- University Clinical Centre (PL)
- Gdańsk Medical University (PL)
Publication Details
- Journal
- Atherosclerosis Plus
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1016/j.athplu.2025.11.001
- Citations
- 1
- Primary Topic
- Lipoproteins and Cardiovascular Health
- Type
- article
- Field-Weighted Citation Impact
- 2.01