Publications:

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PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg

D Matías-Pérez, AD Pérez-Santiago, MA Sánchez Medina, JJ Alpuche Osorno, IA García-Montalvo

Publication Date: 2021-06

Variant appearance in text: PCSK9: D374Y

PubMed Link: 34447653

PubMed Central Link

Variant Present in the following documents:

• Main text

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PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences

C Barale, E Melchionda, A Morotti, I Russo

Publication Date: 2021-05-30

Variant appearance in text: PCSK9: D374Y

PubMed Link: 34070931

PubMed Central Link

Variant Present in the following documents:

• Main text

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Targeted Therapy in Cardiovascular Disease: A Precision Therapy Era.

Frontiers In Pharmacology

M Xu, J Song

Publication Date: 2021

Variant appearance in text: PCSK9: D374Y

PubMed Link: 33935716

PubMed Central Link

Variant Present in the following documents:

• Main text

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New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers In Physiology

Q Ying, DC Chan, GF Watts

Publication Date: 2021

Variant appearance in text: PCSK9: D374Y

PubMed Link: 33643062

PubMed Central Link

Variant Present in the following documents:

• Main text

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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics

Q Guo, X Feng, Y Zhou

Publication Date: 2020

Variant appearance in text: PCSK9: D374Y

PubMed Link: 33173529

PubMed Central Link

Variant Present in the following documents:

• Main text

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Autocrine effects of PCSK9 on cardiomyocytes.

Basic Research In Cardiology

A Wolf, HS Kutsche, R Schreckenberg, M Weber, L Li, S Rohrbach, R Schulz, KD Schlüter

Publication Date: 2020-11-10

Variant appearance in text: PCSK9: D374Y

PubMed Link: 33169229

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics

M Vrablik, L Tichý, T Freiberger, V Blaha, M Satny, JA Hubacek

Publication Date: 2020

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 33133164

PubMed Central Link

Variant Present in the following documents:

• Main text

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PCSK9: A Key Target for the Treatment of Cardiovascular Disease (CVD).

Advanced Pharmaceutical Bulletin

S Sobati, A Shakouri, M Edalati, D Mohammadnejad, R Parvan, J Masoumi, J Abdolalizadeh

Publication Date: 2020-09

Variant appearance in text: PCSK9: D374Y

PubMed Link: 33062601

PubMed Central Link

Variant Present in the following documents:

• Main text

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Monocyte Chemoattractant Protein-1 Is an Independent Predictor of Coronary Artery Ectasia in Patients with Acute Coronary Syndrome.

Journal Of Clinical Medicine

JA Franco-Peláez, R Martín-Reyes, AM Pello-Lázaro, Á Aceña, Ó Lorenzo, JL Martín-Ventura, L Blanco-Colio, ML González-Casaus, I Hernández-González, R Carda, ML Martín-Mariscal, J Egido, J Tuñón

Publication Date: 2020-09-21

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32967202

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Dare to Compare. Development of Atherosclerotic Lesions in Human, Mouse, and Zebrafish.

Frontiers In Cardiovascular Medicine

VL Vedder, Z Aherrahrou, J Erdmann

Publication Date: 2020

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 32714944

PubMed Central Link

Variant Present in the following documents:

• Main text
• fcvm-07-00109.pdf

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Application of Genetically Engineered Pigs in Biomedical Research.

Genes

M Hryhorowicz, D Lipiński, S Hryhorowicz, A Nowak-Terpiłowska, N Ryczek, J Zeyland

Publication Date: 2020-06-19

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32575461

PubMed Central Link

Variant Present in the following documents:

• genes-11-00670.pdf
• Main text
• Supplemental file

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Effects of castration on atherosclerosis in Yucatan minipigs with genetic hypercholesterolemia.

Plos One

JT Shim, N Schmidt, P Nogales, T Larsen, CB Sørensen, JF Bentzon

Publication Date: 2020

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32502216

PubMed Central Link

Variant Present in the following documents:

• Main text

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Sex as a Biological Variable in Atherosclerosis.

Circulation Research

JJ Man, JA Beckman, IZ Jaffe

Publication Date: 2020-04-24

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32324497

PubMed Central Link

Variant Present in the following documents:

• Main text

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How Computational Chemistry and Drug Delivery Techniques Can Support the Development of New Anticancer Drugs.

Molecules (Basel, Switzerland)

M Garofalo, G Grazioso, A Cavalli, J Sgrignani

Publication Date: 2020-04-10

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32290224

PubMed Central Link

Variant Present in the following documents:

• Main text
• molecules-25-01756.pdf

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Accumulation of Pericardial Fat Is Associated With Alterations in Heart Rate Variability Patterns in Hypercholesterolemic Pigs.

Circulation. Arrhythmia And Electrophysiology

DE Uceda, XY Zhu, JR Woollard, CM Ferguson, I Patras, DF Carlson, SJ Asirvatham, A Lerman, LO Lerman

Publication Date: 2020-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 32189516

PubMed Central Link

Variant Present in the following documents:

• Main text

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Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology

V Moldovan, C Banescu, M Dobreanu

Publication Date: 2020-02

Variant appearance in text: PCSK9: Asp374Tyr; rs137852912

PubMed Link: 32120369

PubMed Central Link

Variant Present in the following documents:

• Main text

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

International Journal Of Molecular Sciences

WR Martin, FC Lightstone, F Cheng

Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 32106405

PubMed Central Link

Variant Present in the following documents:

• ijms-21-01550.pdf
• Main text
• Supplemental file

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A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry

SK Sarkar, ACY Foo, A Matyas, I Asikhia, T Kosenko, NK Goto, A Vergara-Jaque, TA Lagace

Publication Date: 2020-02-21

Variant appearance in text: PCSK9: D374Y

PubMed Link: 31949048

PubMed Central Link

Variant Present in the following documents:

• zbc2285.pdf

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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.

The American Journal Of Cardiology

M Krempf, PN Hopkins, E Bruckert, S Lee, S Donahue

Publication Date: 2020-03-15

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 31932084

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Ser-Phosphorylation of PCSK9 (Proprotein Convertase Subtilisin-Kexin 9) by Fam20C (Family With Sequence Similarity 20, Member C) Kinase Enhances Its Ability to Degrade the LDLR (Low-Density Lipoprotein Receptor).

Arteriosclerosis, Thrombosis, And Vascular Biology

A Ben Djoudi Ouadda, MS Gauthier, D Susan-Resiga, E Girard, R Essalmani, M Black, J Marcinkiewicz, D Forget, J Hamelin, A Evagelidis, K Ly, R Day, L Galarneau, F Corbin, B Coulombe, A Çaku, VS Tagliabracci, NG Seidah

Publication Date: 2019-10

Variant appearance in text: PCSK9: D374Y

PubMed Link: 31553664

PubMed Central Link

Variant Present in the following documents:

• Main text

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Modelling of atherosclerosis in genetically modified animals.

American Journal Of Translational Research

NV Mushenkova, VI Summerhill, YY Silaeva, AV Deykin, AN Orekhov

Publication Date: 2019

Variant appearance in text: PCSK9: D374Y

PubMed Link: 31497187

PubMed Central Link

Variant Present in the following documents:

• Main text

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Lupin Peptide T9 (GQEQSHQDEGVIVR) Modulates the Mutant PCSK9D374Y Pathway: in vitro Characterization of its Dual Hypocholesterolemic Behavior.

Nutrients

C Lammi, C Bollati, D Lecca, MP Abbracchio, A Arnoldi

Publication Date: 2019-07-20

Variant appearance in text: PCSK9: D374Y

PubMed Link: 31330826

PubMed Central Link

Variant Present in the following documents:

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An update on the tools for creating transgenic animal models of human diseases - focus on atherosclerosis.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas

AS Volobueva, AN Orekhov, AV Deykin

Publication Date: 2019

Variant appearance in text: PCSK9: D374Y

PubMed Link: 31038578

PubMed Central Link

Variant Present in the following documents:

• Main text

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Inhibition of PCSK9D374Y/LDLR Protein-Protein Interaction by Computationally Designed T9 Lupin Peptide.

Acs Medicinal Chemistry Letters

C Lammi, J Sgrignani, G Roda, A Arnoldi, G Grazioso

Publication Date: 2019-04-11

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30996774

PubMed Central Link

Variant Present in the following documents:

• Main text
• ml8b00464_si_001.pdf
• ml8b00464.pdf

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Updates on Approaches for Studying Atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology

C Wu, A Daugherty, HS Lu

Publication Date: 2019-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30917052

PubMed Central Link

Variant Present in the following documents:

• Main text
• nihms-1521537.pdf

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Targeting proprotein convertase subtilisin/kexin type 9 in mice and monkeys.

Current Opinion In Lipidology

Y Wang, M Ma, JA Wang, A Daugherty, HS Lu

Publication Date: 2019-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30844857

PubMed Central Link

Variant Present in the following documents:

• nihms-1022298.pdf
• Main text

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Macrophage-derived netrin-1 promotes abdominal aortic aneurysm formation by activating MMP3 in vascular smooth muscle cells.

Nature Communications

T Hadi, L Boytard, M Silvestro, D Alebrahim, S Jacob, J Feinstein, K Barone, W Spiro, S Hutchison, R Simon, D Rateri, F Pinet, D Fenyo, M Adelman, KJ Moore, HK Eltzschig, A Daugherty, B Ramkhelawon

Publication Date: 2018-11-27

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30479344

PubMed Central Link

Variant Present in the following documents:

• Main text

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Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.

Journal Of Lipid Research

AM Galvan, JS Chorba

Publication Date: 2019-01

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30463987

PubMed Central Link

Variant Present in the following documents:

• jlrM087189.pdf
• Main text

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Biodynamics: A novel quasi-first principles theory on the fundamental mechanisms of cellular function/dysfunction and the pharmacological modulation thereof.

Plos One

G Selvaggio, RA Pearlstein

Publication Date: 2018

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30383749

PubMed Central Link

Variant Present in the following documents:

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Blending Gagne's Instructional Model with Peyton's Approach to Design an Introductory Bioinformatics Lesson Plan for Medical Students: Proof-of-Concept Study.

Jmir Medical Education

R Tambi, R Bayoumi, P Lansberg, Y Banerjee

Publication Date: 2018-10-25

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30361192

PubMed Central Link

Variant Present in the following documents:

• Main text

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Transcriptome Analysis Reveals Nonfoamy Rather Than Foamy Plaque Macrophages Are Proinflammatory in Atherosclerotic Murine Models.

Circulation Research

K Kim, D Shim, JS Lee, K Zaitsev, JW Williams, KW Kim, MY Jang, H Seok Jang, TJ Yun, SH Lee, WK Yoon, A Prat, NG Seidah, J Choi, SP Lee, SH Yoon, JW Nam, JK Seong, GT Oh, GJ Randolph, MN Artyomov, C Cheong, JH Choi

Publication Date: 2018-10-26

Variant appearance in text: PCSK9: d374y

PubMed Link: 30359200

PubMed Central Link

Variant Present in the following documents:

• NIHMS1505499-supplement-312804_Online_supplement.pdf

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Neurovascular dysfunction in vascular dementia, Alzheimer's and atherosclerosis.

Bmc Neuroscience

O Shabir, J Berwick, SE Francis

Publication Date: 2018-10-17

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30333009

PubMed Central Link

Variant Present in the following documents:

• Main text

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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology

RN Pitts, RH Eckel

Publication Date: 2014-12

Variant appearance in text: PCSK9: D374Y

PubMed Link: 30310488

PubMed Central Link

Variant Present in the following documents:

• Main text

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Anti-PCSK9 treatment: is ultra-low low-density lipoprotein cholesterol always good?

Cardiovascular Research

D Noto, A Giammanco, CM Barbagallo, AB Cefalù, MR Averna

Publication Date: 2018-10-01

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 29931148

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology

Z Eroğlu, A Tetik Vardarlı, Z Düzgün, C Gündüz, V Bozok Çetintaş, M Kayıkçıoğlu

Publication Date: 2018-05

Variant appearance in text: PCSK9: D374Y; rs137852912

PubMed Link: 29724976

PubMed Central Link

Variant Present in the following documents:

• Main text

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Ossabaw Pigs With a PCSK9 Gain-of-Function Mutation Develop Accelerated Coronary Atherosclerotic Lesions: A Novel Model for Preclinical Studies.

Journal Of The American Heart Association

F Yuan, L Guo, KH Park, JR Woollard, K Taek-Geun, K Jiang, T Melkamu, B Zang, SL Smith, SC Fahrenkrug, FD Kolodgie, A Lerman, R Virmani, LO Lerman, DF Carlson

Publication Date: 2018-03-23

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29572319

PubMed Central Link

Variant Present in the following documents:

• Main text

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Non-Native Conformational Isomers of the Catalytic Domain of PCSK9 Induce an Immune Response, Reduce Lipids and Increase LDL Receptor Levels.

International Journal Of Molecular Sciences

C Jiang, H Nischal, H Sun, L Li, Y Cao, P Wei, JY Chang, BB Teng

Publication Date: 2018-02-24

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29495280

PubMed Central Link

Variant Present in the following documents:

• Main text

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RGC-32 (Response Gene to Complement 32) Deficiency Protects Endothelial Cells From Inflammation and Attenuates Atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology

XB Cui, JN Luan, K Dong, S Chen, Y Wang, WT Watford, SY Chen

Publication Date: 2018-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29449334

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms

C Perleberg, A Kind, A Schnieke

Publication Date: 2018-01-22

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29419487

PubMed Central Link

Variant Present in the following documents:

• Main text

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Computational Study of PCSK9-EGFA Complex with Effective Polarizable Bond Force Field.

Frontiers In Molecular Biosciences

J Chen, L Duan, C Ji, JZH Zhang

Publication Date: 2017

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29379787

PubMed Central Link

Variant Present in the following documents:

• Main text

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Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

The Journal Of Biological Chemistry

JS Chorba, AM Galvan, KM Shokat

Publication Date: 2018-02-09

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29259136

PubMed Central Link

Variant Present in the following documents:

• Main text

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Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model.

Translational Research : The Journal Of Laboratory And Clinical Medicine

AF Hedayat, KH Park, TG Kwon, JR Woollard, K Jiang, DF Carlson, A Lerman, LO Lerman

Publication Date: 2018-02

Variant appearance in text: PCSK9: D374Y

PubMed Link: 29175268

PubMed Central Link

Variant Present in the following documents:

• Main text

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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports

MD Di Taranto, A Benito-Vicente, C Giacobbe, KB Uribe, P Rubba, A Etxebarria, O Guardamagna, M Gentile, C Martín, G Fortunato

Publication Date: 2017-11-10

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 29127338

PubMed Central Link

Variant Present in the following documents:

• Main text

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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice

NG Seidah

Publication Date: 2017-03-31

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28971102

PubMed Central Link

Variant Present in the following documents:

• Main text

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Treatment-Induced Viral Cure of Hepatitis C Virus-Infected Patients Involves a Dynamic Interplay among three Important Molecular Players in Lipid Homeostasis: Circulating microRNA (miR)-24, miR-223, and Proprotein Convertase Subtilisin/Kexin Type 9.

Ebiomedicine

A Hyrina, AD Olmstead, P Steven, M Krajden, E Tam, F Jean

Publication Date: 2017-09

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28864162

PubMed Central Link

Variant Present in the following documents:

• Main text
• mmc1.pdf

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Increased half-life and enhanced potency of Fc-modified human PCSK9 monoclonal antibodies in primates.

Plos One

Y Shen, H Li, L Zhao, G Li, B Chen, Q Guo, B Gao, J Wu, T Yang, L Jin, Y Su

Publication Date: 2017

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28817679

PubMed Central Link

Variant Present in the following documents:

• Main text

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PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology

E Kaya, M Kayıkçıoğlu, A Tetik Vardarlı, Z Eroğlu, S Payzın, L Can

Publication Date: 2017-10

Variant appearance in text: PCSK9: D374Y; rs137852912

PubMed Link: 28777095

PubMed Central Link

Variant Present in the following documents:

• Main text

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Whole-Exomes Sequencing Delineates Gene Variants Profile in a Young Saudi Male with Familial Hypercholesterolemia: Case Report.

Journal Of Clinical And Diagnostic Research : Jcdr

E Nuglozeh

Publication Date: 2017-06

Variant appearance in text: PCSK9: 1120G>T; Asp374Tyr

PubMed Link: 28764195

PubMed Central Link

Variant Present in the following documents:

• Main text

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Roles of the low density lipoprotein receptor and related receptors in inhibition of lipoprotein(a) internalization by proprotein convertase subtilisin/kexin type 9.

Plos One

R Romagnuolo, CA Scipione, SM Marcovina, M Gemin, NG Seidah, MB Boffa, ML Koschinsky

Publication Date: 2017

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28750079

PubMed Central Link

Variant Present in the following documents:

• Main text

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Prevention of cardiovascular disease in patients with familial hypercholesterolaemia: The role of PCSK9 inhibitors.

European Journal Of Preventive Cardiology

I Pećin, ML Hartgers, GK Hovingh, R Dent, Ž Reiner

Publication Date: 2017-09

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 28644091

PubMed Central Link

Variant Present in the following documents:

• Main text

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Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.

Atherosclerosis

M Sharifi, E Higginson, S Bos, A Gallivan, D Harvey, KW Li, A Abeysekera, A Haddon, H Ashby, KE Shipman, JA Cooper, M Futema, JE Roeters van Lennep, EJG Sijbrands, M Labib, D Nair, SE Humphries

Publication Date: 2017-08

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 28549500

PubMed Central Link

Variant Present in the following documents:

• Main text

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APP, APLP2 and LRP1 interact with PCSK9 but are not required for PCSK9-mediated degradation of the LDLR in vivo.

Biochimica Et Biophysica Acta. Molecular And Cell Biology Of Lipids

T Fu, Y Guan, J Xu, Y Wang

Publication Date: 2017-09

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28495363

PubMed Central Link

Variant Present in the following documents:

• Main text

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Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology

S Glerup, R Schulz, U Laufs, KD Schlüter

Publication Date: 2017-05

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28439730

PubMed Central Link

Variant Present in the following documents:

• Main text

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Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports

M Sharifi, M Futema, D Nair, SE Humphries

Publication Date: 2017-05

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 28405938

PubMed Central Link

Variant Present in the following documents:

• Main text

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A wild-type mouse-based model for the regression of inflammation in atherosclerosis.

Plos One

M Peled, H Nishi, A Weinstock, TJ Barrett, F Zhou, A Quezada, EA Fisher

Publication Date: 2017

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28291840

PubMed Central Link

Variant Present in the following documents:

• Main text

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Selection of DNA aptamers with two modified bases.

Proceedings Of The National Academy Of Sciences Of The United States Of America

BN Gawande, JC Rohloff, JD Carter, I von Carlowitz, C Zhang, DJ Schneider, N Janjic

Publication Date: 2017-03-14

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28265062

PubMed Central Link

Variant Present in the following documents:

• pnas.1615475114.sapp.pdf
• Main text

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Nutritional and Lipid Modulation of PCSK9: Effects on Cardiometabolic Risk Factors.

The Journal Of Nutrition

JA Krysa, TC Ooi, SD Proctor, DF Vine

Publication Date: 2017-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28179493

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Molecular genetics of familial hypercholesterolemia in Israel-revisited.

Atherosclerosis

R Durst, UK Ibe, S Shpitzen, D Schurr, O Eliav, M Futema, R Whittall, A Szalat, V Meiner, H Knobler, D Gavish, Y Henkin, A Ellis, A Rubinstein, D Harats, R Bitzur, B Hershkovitz, SE Humphries, E Leitersdorf

Publication Date: 2017-02

Variant appearance in text: PCSK9: D374Y

PubMed Link: 28104544

PubMed Central Link

Variant Present in the following documents:

• Main text
• Supplemental file

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The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.

The Journal Of Biological Chemistry

D Susan-Resiga, E Girard, RS Kiss, R Essalmani, J Hamelin, MC Asselin, Z Awan, C Butkinaree, A Fleury, A Soldera, YL Dory, A Baass, NG Seidah

Publication Date: 2017-02-03

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27998977

PubMed Central Link

Variant Present in the following documents:

• Main text

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The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological Reviews

NG Seidah, M Abifadel, S Prost, C Boileau, A Prat

Publication Date: 2017-01

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 27920219

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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

Molecular Genetics And Metabolism Reports

L Wierød, J Cameron, TB Strøm, TP Leren

Publication Date: 2016-12

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27896130

PubMed Central Link

Variant Present in the following documents:

• Main text

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Hypercholesterolemia Induced by a PCSK9 Gain-of-Function Mutation Augments Angiotensin II-Induced Abdominal Aortic Aneurysms in C57BL/6 Mice-Brief Report.

Arteriosclerosis, Thrombosis, And Vascular Biology

H Lu, DA Howatt, A Balakrishnan, MJ Graham, AE Mullick, A Daugherty

Publication Date: 2016-09

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27470509

PubMed Central Link

Variant Present in the following documents:

• Main text

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Translational and Therapeutic Approaches to the Understanding and Treatment of Dyslipidemia.

Arteriosclerosis, Thrombosis, And Vascular Biology

H Zhang, TQ de Aguiar Vallim, C Martel,

Publication Date: 2016-07

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27335468

PubMed Central Link

Variant Present in the following documents:

• Main text

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A single injection of gain-of-function mutant PCSK9 adeno-associated virus vector induces cardiovascular calcification in mice with no genetic modification.

Atherosclerosis

C Goettsch, JD Hutcheson, S Hagita, MA Rogers, MD Creager, T Pham, J Choi, AK Mlynarchik, B Pieper, M Kjolby, M Aikawa, E Aikawa

Publication Date: 2016-08

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27318830

PubMed Central Link

Variant Present in the following documents:

• Main text

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Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation.

The Journal Of Biological Chemistry

E Weider, D Susan-Resiga, R Essalmani, J Hamelin, MC Asselin, S Nimesh, Y Ashraf, KL Wycoff, J Zhang, A Prat, NG Seidah

Publication Date: 2016-08-05

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27284008

PubMed Central Link

Variant Present in the following documents:

• Main text

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

Plos One

S Poirier, HA Hamouda, L Villeneuve, A Demers, G Mayer

Publication Date: 2016

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27280970

PubMed Central Link

Variant Present in the following documents:

• Main text

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CardioPulse Articles.

European Heart Journal

.

Publication Date: 2016-05-01

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27134244

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Cardiovascular risk stratification in familial hypercholesterolaemia.

Heart (British Cardiac Society)

M Sharifi, RD Rakhit, SE Humphries, D Nair

Publication Date: 2016-07-01

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 27126396

PubMed Central Link

Variant Present in the following documents:

• Main text

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Alirocumab, a Therapeutic Human Antibody to PCSK9, Does Not Affect CD81 Levels or Hepatitis C Virus Entry and Replication into Hepatocytes.

Plos One

A Ramanathan, V Gusarova, N Stahl, A Gurnett-Bander, CA Kyratsous

Publication Date: 2016

Variant appearance in text: PCSK9: D374Y

PubMed Link: 27115873

PubMed Central Link

Variant Present in the following documents:

• Main text

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Targeting PCSK9 for therapeutic gains: Have we addressed all the concerns?

Atherosclerosis

Y Banerjee, RD Santos, K Al-Rasadi, M Rizzo

Publication Date: 2016-05

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26987067

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Human PCSK9 promotes hepatic lipogenesis and atherosclerosis development via apoE- and LDLR-mediated mechanisms.

Cardiovascular Research

H Tavori, I Giunzioni, IM Predazzi, D Plubell, A Shivinsky, J Miles, RM Devay, H Liang, S Rashid, MF Linton, S Fazio

Publication Date: 2016-05-15

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26980204

PubMed Central Link

Variant Present in the following documents:

• Main text

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Investigating the Metabolic Syndrome: Contributions of Swine Models.

Toxicologic Pathology

X Zhang, LO Lerman

Publication Date: 2016-04

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26933085

PubMed Central Link

Variant Present in the following documents:

• Main text

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Molecular analysis of the LDLR gene in coronary artery disease patients from the Indian population.

Clinical Biochemistry

KN ArulJothi, RA Whitthall, M Futema, SE Humphries, M George, S Elangovan, DR Nair, A Devi

Publication Date: 2016-06

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26927322

PubMed Central Link

Variant Present in the following documents:

• Main text
• Supplemental file

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

M Sharifi, M Walus-Miarka, B Idzior-Waluś, MT Malecki, M Sanak, R Whittall, KW Li, M Futema, SE Humphries

Publication Date: 2016-03

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 26892515

PubMed Central Link

Variant Present in the following documents:

• Main text
• mmc1.doc

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Vascular endothelial dysfunction and pharmacological treatment.

World Journal Of Cardiology

JB Su

Publication Date: 2015-11-26

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26635921

PubMed Central Link

Variant Present in the following documents:

• Main text

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GRP94 Regulates Circulating Cholesterol Levels through Blockade of PCSK9-Induced LDLR Degradation.

Cell Reports

S Poirier, M Mamarbachi, WT Chen, AS Lee, G Mayer

Publication Date: 2015-12-15

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26628375

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia.

Disease Models & Mechanisms

K Si-Tayeb, S Idriss, B Champon, A Caillaud, M Pichelin, L Arnaud, P Lemarchand, C Le May, K Zibara, B Cariou

Publication Date: 2016-01

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26586530

PubMed Central Link

Variant Present in the following documents:

• Main text

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Large animal models of atherosclerosis--new tools for persistent problems in cardiovascular medicine.

The Journal Of Pathology

J Shim, RH Al-Mashhadi, CB Sørensen, JF Bentzon

Publication Date: 2016-01

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26414760

PubMed Central Link

Variant Present in the following documents:

• Supplemental file

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

Circulation. Cardiovascular Genetics

PN Hopkins, J Defesche, SW Fouchier, E Bruckert, G Luc, B Cariou, B Sjouke, TP Leren, M Harada-Shiba, H Mabuchi, JP Rabès, A Carrié, C van Heyningen, V Carreau, M Farnier, YP Teoh, M Bourbon, MA Kawashiri, A Nohara, H Soran, AD Marais, H Tada, M Abifadel, C Boileau, B Chanu, S Katsuda, I Kishimoto, G Lambert, H Makino, Y Miyamoto, M Pichelin, K Yagi, M Yamagishi, Y Zair, S Mellis, GD Yancopoulos, N Stahl, J Mendoza, Y Du, S Hamon, M Krempf, GD Swergold

Publication Date: 2015-12

Variant appearance in text: PCSK9: Asp374Tyr

PubMed Link: 26374825

PubMed Central Link

Variant Present in the following documents:

• hcg-8-823-s003.pdf
• Main text

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PCSK9 deficiency unmasks a sex- and tissue-specific subcellular distribution of the LDL and VLDL receptors in mice.

Journal Of Lipid Research

A Roubtsova, A Chamberland, J Marcinkiewicz, R Essalmani, A Fazel, JJ Bergeron, NG Seidah, A Prat

Publication Date: 2015-11

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26323289

PubMed Central Link

Variant Present in the following documents:

• Main text

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PCSK9 and triglyceride-rich lipoprotein metabolism.

Journal Of Biomedical Research

I Druce, H Abujrad, TC Ooi

Publication Date: 2015-07-20

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26320603

PubMed Central Link

Variant Present in the following documents:

• Main text

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Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Genome Medicine

A Patwardhan, J Harris, N Leng, G Bartha, DM Church, S Luo, C Haudenschild, M Pratt, J Zook, M Salit, J Tirch, M Morra, S Chervitz, M Li, M Clark, S Garcia, G Chandratillake, S Kirk, E Ashley, M Snyder, R Altman, C Bustamante, AJ Butte, J West, R Chen

Publication Date: 2015

Variant appearance in text: rs137852912

PubMed Link: 26269718

PubMed Central Link

Variant Present in the following documents:

• 13073_2015_197_MOESM8_ESM.xlsx

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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.

The Journal Of Biological Chemistry

QT Le, M Blanchet, NG Seidah, P Labonté

Publication Date: 2015-09-18

Variant appearance in text: PCSK9: D374Y

PubMed Link: 26195630

PubMed Central Link

Variant Present in the following documents:

• Main text

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000302118.5	c.1120G>T	p.Asp374Tyr	missense_variant	7/12	-
ENST00000490692.1	n.1844G>T	-	non_coding_transcript_exon_variant	4/8	-
ENST00000543384.1	c.520G>T	p.Asp174Tyr	missense_variant	5/10	-
NM_174936.4	c.1120G>T	p.Asp374Tyr	missense_variant	7/12	-
NR_110451.1	n.779G>T	-	non_coding_transcript_exon_variant	5/10	-