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Article

Optimized flow cytometry assay for functional characterization of variants of uncertain significance in familial hypercholesterolemia.

Atherosclerosis - 1 Aug 2026

Covino Stella, Di Costanzo Alessia, Rossi Alessandra, Pecce Valeria, Bini Simone, Pinzon Grimaldos Alessandra, Minicocci Ilenia, Tramontano Daniele, Carosi Martina, Arizaj Ina, Lupo Maria Giovanna, Biolo Marta, Maiorca Carlo, Commodari Daniela, Zambon Alberto, D'Erasmo Laura, Piconese Silvia, Arca Marcello

Abstract excerpt

BACKGROUND: The definitive diagnosis of Familial Hypercholesterolemia (FH) relies on the identification of deleterious variants in FH-related genes, but many detected variants are classified as of uncertain significance (VUS). This study aims to evaluate the functional impact of LDLR VUS using an optimized flow cytometry assay in autologous activated CD4+ T lymphocytes. METHODS: Twenty unique LDLR variants were...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42385645
DOI: 10.1016/j.atherosclerosis.2026.120832

Genes

LDLR
FH
CD4
CD28

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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