Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.L253F
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PCSK9

NM_174936.4:p.L253F

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

Demonstrating paths for unlocking the value of cloud genomics through cross cohort analysis.

Deflaux N et al.

Nature Communications, 2023

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.

Wei Y et al.

Protein & Cell, 2023

37285261 (PubMed )
Supplement: pwac043_suppl_supplementary_material.pdf

PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Alannan M et al.

Cells, 2022

Molecular and cellular biology of PCSK9: impact on glucose homeostasis.

Tchéoubi SER et al.

Journal of Drug Targeting, 2022

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

Momtazi-Borojeni AA et al.

Expert Review of Clinical Pharmacology, 2022

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

Lebeau PF et al.

Metabolites, 2022

Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

Grewal T et al.

International Journal of Molecular Sciences, 2022

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

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

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

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

Kim HI et al.

American Journal of Human Genetics, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.

Sánchez-Hernández RM et al.

Atherosclerosis, 2019

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Klarin D et al.

Nature Genetics, 2018

30275531 (PubMed )
Supplement: NIHMS1502930-supplement-8.xlsx › Sheet1

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

PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.

El Khoury P et al.

Current Atherosclerosis Reports, 2017

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

Dron JS et al.

Current Opinion in Lipidology, 2017

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

Feng Q et al.

The Pharmacogenomics Journal, 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) in lipid metabolism, atherosclerosis and ischemic stroke.

Zhang L et al.

The International Journal of Neuroscience, 2016

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

Tsai CW et al.

The Journal of Clinical Endocrinology and Metabolism, 2015

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

Marais AD et al.

Pharmacology & Therapeutics, 2015

PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Tran NT et al.

Frontiers in Genetics, 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

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

Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Wu Y et al.

Plos Genetics, 2013

Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Al-Waili K et al.

Oman Medical Journal, 2013

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

Ferri N

Scientifica, 2012

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

The influence of PCSK9 polymorphisms on serum low-density lipoprotein cholesterol and risk of atherosclerosis.

Davignon J et al.

Current Atherosclerosis Reports, 2010

Genetic screening for homozygous and heterozygous familial hypercholesterolemia.

Izar MC et al.

The Application of Clinical Genetics, 2010

Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Huang CC et al.

Circulation. Cardiovascular Genetics, 2009

[Familial hypercholesterolemia in Tunisia].

Jelassi A et al.

Pathologie-biologie, 2009

Genetic and metabolic determinants of plasma PCSK9 levels.

Lakoski SG et al.

The Journal of Clinical Endocrinology and Metabolism, 2009

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Abifadel M et al.

Human Mutation, 2009

Molecular basis of PCSK9 function.

Lambert G et al.

Atherosclerosis, 2009

Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants.

Bottomley MJ et al.

The Journal of Biological Chemistry, 2009

[Monogenic hypercholesterolemias: new genes, new drug targets].

Mandel'shtam MIu et al.

Genetika, 2008

Functional analysis of sites within PCSK9 responsible for hypercholesterolemia.

Pandit S et al.

Journal of Lipid Research, 2008

PCSK9: an enigmatic protease.

Lopez D

Biochimica Et Biophysica Acta, 2008

Molecular population genetics of PCSK9: a signature of recent positive selection.

Ding K et al.

Pharmacogenetics and Genomics, 2008

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

Varret M et al.

Clinical Genetics, 2008

Genetic determinants of plasma lipoproteins.

Pollex RL et al.

Nature Clinical Practice. Cardiovascular Medicine, 2007

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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."