Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.G106R
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PCSK9

NM_174936.4:p.G106R

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

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

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 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

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

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Tada H et al.

Internal Medicine (tokyo, Japan), 2020

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

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 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

Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations.

Wierød L et al.

Molecular Genetics and Metabolism Reports, 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

Proprotein convertase subtilisin/kexin type 9 inhibition: a new therapeutic mechanism for reducing cardiovascular disease risk.

Bergeron N et al.

Circulation, 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

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

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Poirier S et al.

Drug Design, Development and Therapy, 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

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

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.

Cameron J 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

Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia.

Leren TP et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.

Cameron J et al.

Journal of Internal Medicine, 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

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L et al.

Atherosclerosis, 2007

[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].

Abifadel M et al.

Annales D'endocrinologie, 2007

The cellular trafficking of the secretory proprotein convertase PCSK9 and its dependence on the LDLR.

Nassoury N et al.

Traffic (copenhagen, Denmark), 2007

Unravelling the functional significance of PCSK9.

Lambert G

Current Opinion in Lipidology, 2007

Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia.

Cunningham D et al.

Nature Structural & Molecular Biology, 2007

The crystal structure of PCSK9: a regulator of plasma LDL-cholesterol.

Piper DE et al.

Structure (london, England : 1993), 2007

Molecular biology of PCSK9: its role in LDL metabolism.

Horton JD et al.

Trends in Biochemical Sciences, 2007

Proapoptotic effects of NARC 1 (= PCSK9), the gene encoding a novel serine proteinase.

Bingham B et al.

Cytometry. Part a : the Journal of the International Society for Analytical Cytology, 2006

[PCSK9, from gene to protein: a new actor involved in cholesterol homeostasis].

Abifadel M et al.

Medecine Sciences : M/s, 2006

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.

Cameron J et al.

Human Molecular Genetics, 2006

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