Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R104C
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PCSK9

NM_174936.4:p.R104C

Associated Papers

Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.

Tarique M et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2025

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

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

SKI-1/S1P Facilitates SARS-CoV-2 Spike Induced Cell-to-Cell Fusion via Activation of SREBP-2 and Metalloproteases, Whereas PCSK9 Enhances the Degradation of ACE2.

Essalmani R et al.

Viruses, 2023

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Lebeau PF et al.

Metabolites, 2022

PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Roudaut M et al.

Stem Cell Reports, 2021

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Lacaze P et al.

Open Heart, 2021

34341098 (PubMed )
Supplement: openhrt-2021-001710supp001.xlsx › RPVs_literature

New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Ying Q et al.

Frontiers in Physiology, 2021

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

VLDL (Very-Low-Density Lipoprotein)-Apo E (Apolipoprotein E) May Influence Lp(a) (Lipoprotein [a]) Synthesis or Assembly.

Croyal M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2020

Functional analysis of natural PCSK9 mutants in modern and archaic humans.

Mikaeeli S et al.

The Febs Journal, 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

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Circulating PCSK9 levels are not associated with the severity of hepatic steatosis and NASH in a high-risk population.

Wargny M et al.

Atherosclerosis, 2018

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

Dijk W et al.

Trends in Endocrinology and Metabolism: Tem, 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

tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine.

Wei CH et al.

Bioinformatics (oxford, England), 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

Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.

Dron JS et al.

Current Opinion in Lipidology, 2017

The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Seidah NG

Global Cardiology Science & Practice, 2017

The genetic spectrum of familial hypercholesterolemia in the central south region of China.

Xiang R et al.

Atherosclerosis, 2017

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Seidah NG et al.

Pharmacological Reviews, 2017

Proprotein convertase subtilisin/kexin type 9 (PCSK9) and metabolic syndrome: insights on insulin resistance, inflammation, and atherogenic dyslipidemia.

Ferri N et al.

Endocrine, 2016

Using human genetics to discover new therapeutic targets for plasma lipids.

Cohen JC

Journal of Internal Medicine, 2016

New developments in proprotein convertase subtilisin-kexin 9's biology and clinical implications.

Seidah NG

Current Opinion in Lipidology, 2016

Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Si-Tayeb K et al.

Disease Models & Mechanisms, 2016

PCSK9 inhibition in LDL cholesterol reduction: genetics and therapeutic implications of very low plasma lipoprotein levels.

Marais AD et al.

Pharmacology & Therapeutics, 2015

Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.

Awan Z et al.

Clinical Chemistry, 2014

Alirocumab: PCSK9 inhibitor for LDL cholesterol reduction.

Tavori H et al.

Expert Review of Cardiovascular Therapy, 2014

Preserved adrenal function in fully PCSK9-deficient subject.

Cariou B et al.

International Journal of Cardiology, 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

Plasma PCSK9 concentrations during an oral fat load and after short term high-fat, high-fat high-protein and high-fructose diets.

Cariou B et al.

Nutrition & Metabolism, 2013

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

Benjannet S et al.

The Journal of Biological Chemistry, 2012

Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Ferri N

Scientifica, 2012

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Calandra S et al.

Journal of Lipid Research, 2011

Lack of association between plasma PCSK9 and LDL-apoB100 catabolism in patients with uncontrolled type 2 diabetes.

Vergès B et al.

Atherosclerosis, 2011

Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.

Tibolla G et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011

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

PCSK9 dominant negative mutant results in increased LDL catabolic rate and familial hypobetalipoproteinemia.

Cariou B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2009

Genetic variants in PCSK9 in the Japanese population: rare genetic variants in PCSK9 might collectively contribute to plasma LDL cholesterol levels in the general population.

Miyake Y et al.

Atherosclerosis, 2008

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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."