Associated Papers
Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.
Tarique M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational analysis.
Shaik NA et al.
Frontiers in Physiology, 2023
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Functional analysis of natural PCSK9 mutants in modern and archaic humans.
Mikaeeli S et al.
The Febs Journal, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Buonuomo PS et al.
Atherosclerosis, 2017
Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.
Jelassi A et al.
Current Genomics, 2013
Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Slimani A et al.
Atherosclerosis, 2012
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
Bamimore MA et al.
Journal of Clinical Lipidology, 0
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