Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.H553R
Back to variants list

PCSK9

NM_174936.4:p.H553R

Associated Papers

Insights into PCSK9-LDLR Regulation and Trafficking via the Differential Functions of MHC-I Proteins HFE and HLA-C.

Mikaeeli S et al.

Cells, 2024

Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.

Reijman MD et al.

Current Opinion in Lipidology, 2023

36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_2_-_variants__HoFH_

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

Molecular interactions of PCSK9 with an inhibitory nanobody, CAP1 and HLA-C: Functional regulation of LDLR levels.

Fruchart Gaillard C et al.

Molecular Metabolism, 2023

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Gandhi GD et al.

Journal of Translational Medicine, 2022

36329474 (PubMed )
Supplement: 12967_2022_3697_MOESM1_ESM.docx

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

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

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Marceau West R et al.

Plos Computational Biology, 2019

Associations Between Soluble LDLR and Lipoproteins in a White Cohort and the Effect of PCSK9 Loss-of-Function.

Mayne J et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Kawakami R et al.

Plos One, 2018

Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Futema M et al.

Atherosclerosis, 2017

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

Dron JS et al.

Current Opinion in Lipidology, 2017

Comparing expression and activity of PCSK9 in SPRET/EiJ and C57BL/6J mouse strains shows lack of correlation with plasma cholesterol.

Sirois F et al.

Molecular Genetics and Metabolism Reports, 2017

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

Poirier S et al.

Plos One, 2016

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

Le QT et al.

The Journal of Biological Chemistry, 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 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

Impact of 3'UTR genetic variants in PCSK9 and LDLR genes on plasma lipid traits and response to atorvastatin in Brazilian subjects: a pilot study.

Zambrano T et al.

International Journal of Clinical and Experimental Medicine, 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

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

Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Mayne J et al.

Lipids in Health and Disease, 2013

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

Testing for an unusual distribution of rare variants.

Neale BM et al.

Plos Genetics, 2011

A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

Ni YG et al.

The Journal of Biological Chemistry, 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

PCSK9 as a therapeutic target of dyslipidemia.

Seidah NG

Expert Opinion on Therapeutic Targets, 2009

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 determinants of plasma lipoproteins.

Pollex RL et al.

Nature Clinical Practice. Cardiovascular Medicine, 2007

Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Ding K et al.

Plos One, 2007

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

Nassoury N et al.

Traffic (copenhagen, Denmark), 2007

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

Kotowski IK et al.

American Journal of Human Genetics, 2006

Influence of PCSK9 polymorphisms on plasma lipids and response to atorvastatin treatment in Brazilian subjects.

Anderson JM et al.

Journal of Clinical Lipidology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."