Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R434W
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PCSK9

NM_174936.4:p.R434W

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

Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.

Wagner JT et al.

Frontiers in Molecular Biosciences, 2025

41158875 (PubMed )
Supplement: DataSheet1.xlsx › H

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

Galvão Lopes V et al.

Journal of Biomolecular Structure & Dynamics, 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

Harmonizing variant classification for return of results in the All of Us Research Program.

Harrison SM et al.

Human Mutation, 2022

34923710 (PubMed )
Supplement: HUMU-43-1114-s002.xlsx › Supplemental_Table_1

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

Lebeau PF et al.

Metabolites, 2022

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

Sundararaman SS et al.

Biomedicines, 2021

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

Lacaze P et al.

Open Heart, 2021

Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall.

Guo Y et al.

Journal of Cellular Physiology, 2021

Development of a novel, fully human, anti-PCSK9 antibody with potent hypolipidemic activity by utilizing phage display-based strategy.

Xu M et al.

Ebiomedicine, 2021

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Pathway Mutations in Breast Cancer Using Whole-Exome Sequencing.

Chang YS et al.

Oncology Research, 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

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA

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

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

Dron JS 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

Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.

Poirier S et al.

Plos One, 2016

Alirocumab: PCSK9 inhibitor for LDL cholesterol reduction.

Tavori H et al.

Expert Review of Cardiovascular Therapy, 2014

Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Han D et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2014

Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

Ly K et al.

The Journal of Biological Chemistry, 2014

PCSK9: a key modulator of cardiovascular health.

Seidah NG et al.

Circulation Research, 2014

The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

Saavedra YG et al.

The Journal of Biological Chemistry, 2012

PCSK9 reduces the protein levels of the LDL receptor in mouse brain during development and after ischemic stroke.

Rousselet E et al.

Journal of Lipid Research, 2011

Clinical aspects of PCSK9.

Cariou B et al.

Atherosclerosis, 2011

A new method for measurement of total plasma PCSK9: clinical applications.

Dubuc G et al.

Journal of Lipid Research, 2010

Statins and ezetimibe modulate plasma proprotein convertase subtilisin kexin-9 (PCSK9) levels.

Davignon J et al.

Transactions of the American Clinical and Climatological Association, 2009

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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."