Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.S127R
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PCSK9

NM_174936.4:p.S127R

Associated Papers

Impact of loss-of-function variations of PCSK9 on LDLR interaction and dynamics: Implications for heart function.

Kulshreshtha A et al.

Biochemical and Biophysical Research Communications, 2026

Tweaking lentiviral vector design balances efficacy and safety in liver-directed gene therapy for familial hypercholesterolemia.

Canepari C et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025

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

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

The Impact of PCSK9 on Diabetic Cardiomyopathy: Mechanisms and Implications.

Wang H et al.

Biomolecules, 2025

PCSK9 Promotes LDLR Degradation by Preventing SNX17-Mediated LDLR Recycling.

Guan Y et al.

Circulation, 2025

40071387 (PubMed )
Supplement: supplementary_materials_-clean.docx

Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?

Tandirerung FJ

Cardiovascular Drugs and Therapy, 2025

Polymorphisms in the proprotein convertase subtilisin/kexin type 9 gene in clinically diagnosed patients with familial hypercholesterolemia.

Costa ALDS et al.

Revista Da Associacao Medica Brasileira (1992), 2025

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

Azar Y et al.

Atherosclerosis, 2024

PCSK9 Inhibitors: The Evolving Future.

Jeswani BM et al.

Health Science Reports, 2024

Analysis of the Correlation between FH and PCSK9 and APOB Gene Mutations in Han and Mongolian Populations of the Hulunbuir.

Gao W et al.

Clinical Laboratory, 2024

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

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

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Predictive Modeling and Structure Analysis of Genetic Variants in Familial Hypercholesterolemia: Implications for Diagnosis and Protein Interaction Studies.

Larrea-Sebal A et al.

Current Atherosclerosis Reports, 2023

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

A novel angiogenic effect of PCSK9- regulated genes.

Zhan X et al.

Gene, 2023

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Heparin Does Not Regulate Circulating Human PCSK9 (Proprotein Convertase Subtilisin-Kexin Type 9) in a General Population-Brief Report.

Xia VQ et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.

Gianazza E et al.

Frontiers in Cardiovascular Medicine, 2023

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

Alannan M et al.

Cells, 2022

Recent Update on the Development of PCSK9 Inhibitors for Hypercholesterolemia Treatment.

Ahamad S et al.

Journal of Medicinal Chemistry, 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 Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

Insight into the Evolving Role of PCSK9.

Maligłówka M et al.

Metabolites, 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

A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

Uribe KB et al.

International Journal of Molecular Sciences, 2021

Hypercholesterolemia risk associated Abca6 does not regulate lipoprotein metabolism in mice or hamster.

He B et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2021

Unravelling lipoprotein metabolism with stable isotopes: tracing the flow.

Ying Q et al.

Metabolism: Clinical and Experimental, 2021

Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Hindi NN et al.

Journal of Personalized Medicine, 2021

Proprotein Convertase Subtilisin/Kexin Type 9: A View beyond the Canonical Cholesterol-Lowering Impact.

Macchi C et al.

The American Journal of Pathology, 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

PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Matías-Pérez D et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

PCSK9 Biology and Its Role in Atherothrombosis.

Barale C et al.

International Journal of Molecular Sciences, 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

Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Cheng F et al.

Nature Genetics, 2021

Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town.

Huijgen R et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

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

The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Seidah NG

Journal of Lipid Research, 2021

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

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

New Pharmacological Approaches to Target PCSK9.

Catapano AL et al.

Current Atherosclerosis Reports, 2020

Beyond cholesterol metabolism: The pleiotropic effects of proprotein convertase subtilisin/kexin type 9 (PCSK9). Genetics, mutations, expression, and perspective for long-term inhibition.

Cesaro A et al.

Biofactors (oxford, England), 2020

Efficacy and Safety of Alirocumab in Patients With Autosomal Dominant Hypercholesterolemia Associated With Proprotein Convertase Subtilisin/Kexin Type 9 Gain-of-Function or Apolipoprotein B Loss-of-Function Mutations.

Krempf M et al.

The American Journal of Cardiology, 2020

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

In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

Martin WR et al.

International Journal of Molecular Sciences, 2020

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

Mikaeeli S et al.

The Febs Journal, 2020

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

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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."