Associated Papers
Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.
Metwally AM et al.
Lipids in Health and Disease, 2025
Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach.
Adolfsson E et al.
Atherosclerosis Plus, 2025
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.
Cao YX et al.
Journal of Translational Medicine, 2018
30526649 (PubMed )
Supplement: 12967_2018_1737_MOESM1_ESM.pdf
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Abifadel M et al.
Current Atherosclerosis Reports, 2014
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
A PCSK9 variant and familial combined hyperlipidaemia.
Abifadel M et al.
Journal of Medical Genetics, 2008
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.
Cameron J et al.
Human Molecular Genetics, 2006
Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?
Reddy LL et al.
Indian Heart Journal, 0
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