Associated Papers
PCSK9 expression and cancer survival: a prognostic biomarker at the intersection of oncology and geroscience.
Ungvari Z et al.
Geroscience, 2025
Combining genetic proxies of drug targets and time-to-event analyses from longitudinal observational data to identify target patient populations.
Zhang L et al.
Bmc Cardiovascular Disorders, 2025
Targeting inherited mutations to prevent metastasis.
Villanueva MT
Nature Reviews. Drug Discovery, 2025
PCSK9 V474I germline variant drives breast cancer metastasis.
Wang H et al.
Life Metabolism, 2025
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
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y et al.
Atherosclerosis, 2024
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
Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.
Butnariu LI et al.
Diagnostics (basel, Switzerland), 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
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
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
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 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
Very Low Density Lipoprotein Receptor Sequesters Lipopolysaccharide Into Adipose Tissue During Sepsis.
Shimada T et al.
Critical Care Medicine, 2020
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
Large-Scale Phenome-Wide Association Study of PCSK9 Variants Demonstrates Protection Against Ischemic Stroke.
Rao AS et al.
Circulation. Genomic and Precision Medicine, 2018
Genetic Regulation of PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9) Plasma Levels and Its Impact on Atherosclerotic Vascular Disease Phenotypes.
Pott J et al.
Circulation. Genomic and Precision Medicine, 2018
Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.
Hopewell JC et al.
European Heart Journal, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016