Associated Papers
Impact of loss-of-function variations of PCSK9 on LDLR interaction and dynamics: Implications for heart function.
Kulshreshtha A et al.
Biochemical and Biophysical Research Communications, 2026
First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.
Ncir WB et al.
Journal of Cellular and Molecular Medicine, 2026
A commonly inherited human PCSK9 germline variant drives breast cancer metastasis via LRP1 receptor.
Mei W et al.
Cell, 2025
Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
Zhao A et al.
Genes & Diseases, 2025
Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.
Costa ALDS et al.
Revista Da Associacao Medica Brasileira (1992), 2025
Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.
Hamadi A et al.
Frontiers in Human Neuroscience, 2025
Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.
Chamoieva AE et al.
International Journal of Molecular Sciences, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lv X et al.
Lipids in Health and Disease, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Detrimental effects of PCSK9 loss-of-function in the pediatric host response to sepsis are mediated through independent influence on Angiopoietin-1.
Atreya MR et al.
Critical Care (london, England), 2023
Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
El-Gazzar A et al.
Embo Molecular Medicine, 2023
Detrimental effects of PCSK9 loss-of-function in the pediatric host response to sepsis are mediated through independent influence on Angiopoietin-1.
Atreya MR et al.
Research Square, 2023
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
Common and Rare PCSK9 Variants Associated with Low-Density Lipoprotein Cholesterol Levels and the Risk of Diabetes Mellitus: A Mendelian Randomization Study.
Hsu LA et al.
International Journal of Molecular Sciences, 2022
Pharmacogenomics of statins: lipid response and other outcomes in Brazilian cohorts.
Dagli-Hernandez C et al.
Pharmacological Reports : Pr, 2022
Polygenic variants related to familial hypobetalipoproteinemia in a patient with Alzheimer's disease homozygotic for the APOE ε2 allele presenting multiple cortical superficial siderosis and recurrent lobar hemorrhages.
Ikeda M et al.
Neurogenetics, 2022
Pharmacokinetics and Genetic Factors of Atorvastatin in Healthy Korean Subjects.
Kim S et al.
Frontiers in Genetics, 2022
Expanding the phenotypic spectrum of non-alcoholic fatty liver disease and hypertriglyceridemia.
Meroni M et al.
Frontiers in Nutrition, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.
Martín-Campos JM
Biomedicines, 2021
PCSK9 Biology and Its Role in Atherothrombosis.
Barale C et al.
International Journal of Molecular Sciences, 2021
Whole genome mapping and identification of single nucleotide polymorphisms of four Bangladeshi individuals and their functional significance.
Khan S et al.
Bmc Research Notes, 2021
Proprotein Convertase Subtilisin/Kexin Type 9 Loss-of-Function Is Detrimental to the Juvenile Host With Septic Shock.
Atreya MR et al.
Critical Care Medicine, 2020
From Screening to Targeted Degradation: Strategies for the Discovery and Optimization of Small Molecule Ligands for PCSK9.
Petrilli WL et al.
Cell Chemical Biology, 2020
Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.
Jang HD et al.
European Heart Journal, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.
Vasilyev V et al.
Frontiers in Genetics, 2020
A Genetic Approach to the Association Between PCSK9 and Sepsis.
Feng Q et al.
Jama Network Open, 2019
Emerging role of proprotein convertase subtilisin/kexin type-9 (PCSK-9) in inflammation and diseases.
Brown M et al.
Toxicology and Applied Pharmacology, 2019
The association of the PCSK9 rs562556 polymorphism with serum lipids level: a meta-analysis.
Chuan J et al.
Lipids in Health and Disease, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
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
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.
Nuglozeh E
Journal of Clinical and Diagnostic Research : Jcdr, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.
Lee CJ et al.
Plos One, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Gene Polymorphisms Affect the Effectiveness of Atorvastatin in Treating Ischemic Stroke Patients.
Yue YH et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015