Associated Papers
Risk for coronary artery disease among individuals with normal low-density lipoprotein cholesterol (LDL-C) levels.
Shi Z et al.
International Journal of Cardiology. Cardiovascular Risk and Prevention, 2026
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Gelzo M et al.
Acta Neurologica Belgica, 2021
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Imafidon ME et al.
Frontiers in Pediatrics, 2021
The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.
Deng SJ et al.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
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
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.
Di Taranto MD et al.
Scientific Reports, 2017
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Hopkins PN et al.
Circulation. Cardiovascular Genetics, 2015
The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family.
Ruotolo A et al.
Clinical Chemistry and Laboratory Medicine, 2014