Article
LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach.
Molecular biology reports - 1 Nov 2023
de Freitas Renata Caroline Costa, Bortolin Raul Hernandes, Borges Jessica Bassani, de Oliveira Victor Fernandes, Dagli-Hernandez Carolina, Marçal Elisangela da Silva Rodrigues, Bastos Gisele Medeiros, Gonçalves Rodrigo Marques, Faludi Andre Arpad, Silbiger Vivian Nogueira, Luchessi André Ducati, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyuki
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is caused by pathogenic variants in low-density lipoprotein (LDL) receptor (LDLR) or its associated genes, including apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDLR adaptor protein 1 (LDLRAP1). However, approximately 40% of the FH patients clinically diagnosed (based on FH phenotypes) may not carry a causal variant in a...
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