Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A53V
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PCSK9

NM_174936.4:p.A53V

Associated Papers

PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

Targeting proprotein convertase subtilisin/kexin type 9 (PCSK9): from bench to bedside.

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Meta-GWAS on PCSK9 concentrations reveals associations of novel loci outside the PCSK9 locus in White populations.

Kheirkhah A et al.

Atherosclerosis, 2023

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay.

Cheng S et al.

Cell Discovery, 2023

37479695 (PubMed )
Supplement: 41421_2023_582_MOESM2_ESM.xlsx › Table_S18

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

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

The role of PCSK9 in NAFLD/NASH and therapeutic implications of PCSK9 inhibition.

Momtazi-Borojeni AA et al.

Expert Review of Clinical Pharmacology, 2022

How Can We Identify Very High-Risk Heterozygous Familial Hypercholesterolemia?

Kataoka Y et al.

Journal of Atherosclerosis and Thrombosis, 2022

The biological relevance of PCSK9: when less is better….

Mbikay M et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2022

The Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.

Pott J et al.

Human Molecular Genetics, 2022

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

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

36277747 (PubMed )
Supplement: Data_Sheet_1.xls › Data_Sheet_1

PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Sundararaman SS et al.

Biomedicines, 2021

Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Moradi A et al.

Frontiers in Genetics, 2021

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

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

Very Low Density Lipoprotein Receptor Sequesters Lipopolysaccharide Into Adipose Tissue During Sepsis.

Shimada T et al.

Critical Care Medicine, 2020

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Huang CC et al.

Frontiers in Genetics, 2020

Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.

Hori M et al.

Atherosclerosis, 2019

Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Nuglozeh E et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2019

A Genetic Approach to the Association Between PCSK9 and Sepsis.

Feng Q et al.

Jama Network Open, 2019

31509211 (PubMed )
Supplement: jamanetwopen-2-e1911130-s001.pdf

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 a Helical Segment within the Intrinsically Disordered Region of the PCSK9 Prodomain.

Ultsch M et al.

Journal of Molecular Biology, 2019

Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia.

Tanaka S et al.

Internal Medicine (tokyo, Japan), 2019

Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors.

Genga KR et al.

Ebiomedicine, 2018

Beyond LDL: What Role for PCSK9 in Triglyceride-Rich Lipoprotein Metabolism?

Dijk W et al.

Trends in Endocrinology and Metabolism: Tem, 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

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

Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

Hopewell JC et al.

European Heart Journal, 2018

In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.

Morad FA et al.

Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018

The Effect of PCSK9 Loss-of-Function Variants on the Postprandial Lipid and ApoB-Lipoprotein Response.

Ooi TC et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.

Han DF et al.

Neural Regeneration Research, 2017

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Nutritional and Lipid Modulation of PCSK9: Effects on Cardiometabolic Risk Factors.

Krysa JA et al.

The Journal of Nutrition, 2017

The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

Feng Q et al.

The Pharmacogenomics Journal, 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

The anti-adipogenic effect of peripheral blood mononuclear cells is absent with PCSK9 loss-of-function variants.

Gagnon A et al.

Obesity (silver Spring, Md.), 2016

DIVAS: a centralized genetic variant repository representing 150,000 individuals from multiple disease cohorts.

Cheng WY et al.

Bioinformatics (oxford, England), 2016

26363178 (PubMed )
Supplement: supp_btv511_divas-supp-2015-07-27.pdf

β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.

Starr AE et al.

The Febs Journal, 2015

Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study.

Zambrano T et al.

International Journal of Clinical and Experimental Medicine, 2015

PCSK9 is a critical regulator of the innate immune response and septic shock outcome.

Walley KR et al.

Science Translational Medicine, 2014

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Mayne J et al.

Lipids in Health and Disease, 2013

The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

de Almeida ER et al.

Biomed Research International, 2013

Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture.

Mayne J et al.

Clinical Chemistry, 2011

Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

Benjannet S et al.

The Journal of Biological Chemistry, 2010

PCSK9 R46L, low-density lipoprotein cholesterol levels, and risk of ischemic heart disease: 3 independent studies and meta-analyses.

Benn M et al.

Journal of the American College of Cardiology, 2010

The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation.

Noguchi T et al.

Atherosclerosis, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."