Variant ID: 1-55523127-G-T

NM_174936.3(PCSK9):c.1120G>T;(p.Asp374Tyr)

This variant was identified in 127 publications


Data for the 100 most recent publications are displayed below.


Publications:


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
PMID: 32714944
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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
PMID: 32575461
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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
PMID: 32502216
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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
PMID: 32290224
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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: D374Y; rs137852912
PMID: 32120369
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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
PMID: 32106405
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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
PMID: 31497187
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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
PMID: 31330826
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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
PMID: 31038578
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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
PMID: 30996774
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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
PMID: 30917052
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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
PMID: 30844857
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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
PMID: 30479344
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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
PMID: 30463987
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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
PMID: 30383749
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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
PMID: 30361192
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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
PMID: 30333009
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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
PMID: 30310488
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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
PMID: 29724976
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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
PMID: 29572319
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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
PMID: 29495280
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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
PMID: 29449334
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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
PMID: 29419487
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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
PMID: 29379787
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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
PMID: 29259136
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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
PMID: 29175268
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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
PMID: 29127338
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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
PMID: 28971102
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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
PMID: 28864162
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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
PMID: 28817679
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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
PMID: 28777095
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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
PMID: 28764195
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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
PMID: 28750079
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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: D374Y
PMID: 28644091
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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
PMID: 28549500
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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
PMID: 28495363
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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
PMID: 28439730
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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
PMID: 28405938
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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
PMID: 28291840
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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
PMID: 28265062
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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
PMID: 27998977
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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
PMID: 27896130
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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
PMID: 27470509
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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
PMID: 27335468
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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
PMID: 27318830
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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
PMID: 27284008
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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
PMID: 27280970
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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
PMID: 27126396
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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
PMID: 27115873
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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
PMID: 26980204
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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
PMID: 26933085
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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
PMID: 26892515
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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
PMID: 26635921
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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
PMID: 26586530
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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
PMID: 26374825
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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
PMID: 26323289
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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
PMID: 26320603
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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
PMID: 26195630
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Amyloid Precursor-like Protein 2 and Sortilin Do Not Regulate the PCSK9 Convertase-mediated Low Density Lipoprotein Receptor Degradation but Interact with Each Other.

The Journal Of Biological Chemistry
C Butkinaree, M Canuel, R Essalmani, S Poirier, S Benjannet, MC Asselin, A Roubtsova, J Hamelin, J Marcinkiewicz, A Chamberland, J Guillemot, G Mayer, SS Sisodia, Y Jacob, A Prat, NG Seidah
Publication Date: 2015-07-24

Variant appearance in text: PCSK9: D374Y
PMID: 26085104
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PCSK9 regulates apoptosis in human neuroglioma u251 cells via mitochondrial signaling pathways.

International Journal Of Clinical And Experimental Pathology
MX Piao, JW Bai, PF Zhang, YZ Zhang
Publication Date: 2015

Variant appearance in text: PCSK9: D374Y
PMID: 26045785
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β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.

The Febs Journal
AE Starr, V Lemieux, J Noad, JI Moore, T Dewpura, A Raymond, M Chrétien, D Figeys, J Mayne
Publication Date: 2015-07

Variant appearance in text: PCSK9: D374Y
PMID: 25913303
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Lipoprotein(a) catabolism is regulated by proprotein convertase subtilisin/kexin type 9 through the low density lipoprotein receptor.

The Journal Of Biological Chemistry
R Romagnuolo, CA Scipione, MB Boffa, SM Marcovina, NG Seidah, ML Koschinsky
Publication Date: 2015-05-01

Variant appearance in text: PCSK9: D374Y
PMID: 25778403
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Atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
H Lu, A Daugherty
Publication Date: 2015-03

Variant appearance in text: PCSK9: D374Y
PMID: 25717174
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Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology
R Schulz, KD Schlüter, U Laufs
Publication Date: 2015-03

Variant appearance in text: PCSK9: D374Y
PMID: 25600226
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On the function and homeostasis of PCSK9: reciprocal interaction with LDLR and additional lipid effects.

Atherosclerosis
H Tavori, S Rashid, S Fazio
Publication Date: 2015-02

Variant appearance in text: PCSK9: D374Y
PMID: 25544176
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Accelerating the pace of atherosclerosis research.

Arteriosclerosis, Thrombosis, And Vascular Biology
A Daugherty, I Tabas, DJ Rader
Publication Date: 2015-01

Variant appearance in text: PCSK9: D374Y
PMID: 25520521
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Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.

Clinical Chemistry
M Futema, S Shah, JA Cooper, K Li, RA Whittall, M Sharifi, O Goldberg, E Drogari, V Mollaki, A Wiegman, J Defesche, MN D'Agostino, A D'Angelo, P Rubba, G Fortunato, M Waluś-Miarka, RA Hegele, M Aderayo Bamimore, R Durst, E Leitersdorf, MT Mulder, JE Roeters van Lennep, EJ Sijbrands, JC Whittaker, PJ Talmud, SE Humphries
Publication Date: 2015-01

Variant appearance in text: PCSK9: D374Y
PMID: 25414277
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Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

Journal Of Medical Genetics
M Futema, V Plagnol, K Li, RA Whittall, HA Neil, M Seed, , S Bertolini, S Calandra, OS Descamps, CA Graham, RA Hegele, F Karpe, R Durst, E Leitersdorf, N Lench, DR Nair, H Soran, FM Van Bockxmeer, , SE Humphries
Publication Date: 2014-08

Variant appearance in text: PCSK9: 1120G>T; Asp374Tyr
PMID: 24987033
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Annexin A2 reduces PCSK9 protein levels via a translational mechanism and interacts with the M1 and M2 domains of PCSK9.

The Journal Of Biological Chemistry
K Ly, YG Saavedra, M Canuel, S Routhier, R Desjardins, J Hamelin, J Mayne, C Lazure, NG Seidah, R Day
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: D374Y
PMID: 24808179
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Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research
B Han, PI Eacho, MD Knierman, JS Troutt, RJ Konrad, X Yu, KM Schroeder
Publication Date: 2014-07

Variant appearance in text: PCSK9: D374Y
PMID: 24776539
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Targeted disruption of LDLR causes hypercholesterolemia and atherosclerosis in Yucatan miniature pigs.

Plos One
BT Davis, XJ Wang, JA Rohret, JT Struzynski, EP Merricks, DA Bellinger, FA Rohret, TC Nichols, CS Rogers
Publication Date: 2014

Variant appearance in text: PCSK9: D374Y
PMID: 24691380
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The dual behavior of PCSK9 in the regulation of apoptosis is crucial in Alzheimer's disease progression (Review).

Biomedical Reports
Q Wu, ZH Tang, J Peng, L Liao, LH Pan, CY Wu, ZS Jiang, GX Wang, LS Liu
Publication Date: 2014-03

Variant appearance in text: PCSK9: D374Y
PMID: 24649090
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Hepatitis C virus stimulates low-density lipoprotein receptor expression to facilitate viral propagation.

Journal Of Virology
GH Syed, H Tang, M Khan, T Hassanein, J Liu, A Siddiqui
Publication Date: 2014-03

Variant appearance in text: PCSK9: D374Y
PMID: 24352472
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The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
ER de Almeida, EM Reiche, AP Kallaur, T Flauzino, MA Watanabe
Publication Date: 2013

Variant appearance in text: PCSK9: Asp374Tyr
PMID: 24319689
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Internalized PCSK9 dissociates from recycling LDL receptors in PCSK9-resistant SV-589 fibroblasts.

Journal Of Lipid Research
MA Nguyen, T Kosenko, TA Lagace
Publication Date: 2014-02

Variant appearance in text: PCSK9: D374Y
PMID: 24296664
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: D374Y
PMID: 24278757
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The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug Design, Development And Therapy
S Poirier, G Mayer
Publication Date: 2013

Variant appearance in text: PCSK9: D374Y
PMID: 24115837
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Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Journal Of Lipid Research
HM Gu, A Adijiang, M Mah, DW Zhang
Publication Date: 2013-12

Variant appearance in text: PCSK9: D374Y
PMID: 24103783
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Atherosclerosis: cell biology and lipoproteins.

Current Opinion In Lipidology
H Lu, A Daugherty
Publication Date: 2013-10

Variant appearance in text: PCSK9: D374Y
PMID: 24005221
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Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.

Current Genomics
A Jelassi, M Najah, A Slimani, I Jguirim, MN Slimane, M Varret
Publication Date: 2013-03

Variant appearance in text: PCSK9: D374Y
PMID: 23997648
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PCSK9 prosegment chimera as novel inhibitors of LDLR degradation.

Plos One
YG Saavedra, J Zhang, NG Seidah
Publication Date: 2013

Variant appearance in text: PCSK9: D374Y
PMID: 23951290
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Porcine models of accelerated coronary atherosclerosis: role of diabetes mellitus and hypercholesterolemia.

Journal Of Diabetes Research
D Hamamdzic, RL Wilensky
Publication Date: 2013

Variant appearance in text: PCSK9: D374Y
PMID: 23844374
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Genetic screening for homozygous and heterozygous familial hypercholesterolemia.

The Application Of Clinical Genetics
MC Izar, VA Machado, FA Fonseca
Publication Date: 2010

Variant appearance in text: PCSK9: D374Y
PMID: 23776359
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The Application Of Clinical Genetics
I De Castro-Orós, M Pocoví, F Civeira
Publication Date: 2010

Variant appearance in text: PCSK9: D374Y
PMID: 23776352
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Serum proprotein convertase subtilisin/kexin type 9 and cell surface low-density lipoprotein receptor: evidence for a reciprocal regulation.

Circulation
H Tavori, D Fan, JL Blakemore, PG Yancey, L Ding, MF Linton, S Fazio
Publication Date: 2013-06-18

Variant appearance in text: PCSK9: D374Y
PMID: 23690465
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Proprotein convertase subtilisin/kexin type 9 (PCSK9) can mediate degradation of the low density lipoprotein receptor-related protein 1 (LRP-1).

Plos One
M Canuel, X Sun, MC Asselin, E Paramithiotis, A Prat, NG Seidah
Publication Date: 2013

Variant appearance in text: PCSK9: D374Y
PMID: 23675525
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Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.

Atherosclerosis
M Futema, RA Whittall, A Kiley, LK Steel, JA Cooper, E Badmus, SE Leigh, F Karpe, HA Neil, , SE Humphries
Publication Date: 2013-07

Variant appearance in text: PCSK9: Asp374Tyr
PMID: 23669246
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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: D374Y
PMID: 23663650
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PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.

Journal Of Lipid Research
K Tveten, TB Strøm, KE Berge, TP Leren
Publication Date: 2013-06

Variant appearance in text: PCSK9: D374Y
PMID: 23509406
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Low density lipoprotein binds to proprotein convertase subtilisin/kexin type-9 (PCSK9) in human plasma and inhibits PCSK9-mediated low density lipoprotein receptor degradation.

The Journal Of Biological Chemistry
T Kosenko, M Golder, G Leblond, W Weng, TA Lagace
Publication Date: 2013-03-22

Variant appearance in text: PCSK9: D374Y
PMID: 23400816
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Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.

Oman Medical Journal
K Al-Waili, WA Al-Zidi, AR Al-Abri, K Al-Rasadi, HA Al-Sabti, K Shah, A Al-Futaisi, I Al-Zakwani, Y Banerjee
Publication Date: 2013-01

Variant appearance in text: PCSK9: D374Y
PMID: 23386946
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Proprotein convertase subtilisin/kexin type 9 deficiency reduces melanoma metastasis in liver.

Neoplasia (New York, N.Y.)
X Sun, R Essalmani, R Day, AM Khatib, NG Seidah, A Prat
Publication Date: 2012-12

Variant appearance in text: PCSK9: D374Y
PMID: 23308045
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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.

The Journal Of Biological Chemistry
YG Saavedra, R Day, NG Seidah
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: D374Y
PMID: 23105118
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c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.

Molecules (Basel, Switzerland)
W Xu, L Liu, D Hornby
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: D374Y
PMID: 23085658
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Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Z Ahmad, B Adams-Huet, C Chen, A Garg
Publication Date: 2012-12

Variant appearance in text: PCSK9: D374Y
PMID: 23064986
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Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

Journal Of Medical Genetics
M Futema, V Plagnol, RA Whittall, HA Neil, , SE Humphries,
Publication Date: 2012-10

Variant appearance in text: PCSK9: 1120G>T; D374Y
PMID: 23054246
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The PCSK9 decade.

Journal Of Lipid Research
G Lambert, B Sjouke, B Choque, JJ Kastelein, GK Hovingh
Publication Date: 2012-12

Variant appearance in text: PCSK9: D374Y
PMID: 22811413
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Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

Journal Of Lipid Research
Y Wang, Y Huang, HH Hobbs, JC Cohen
Publication Date: 2012-09

Variant appearance in text: PCSK9: D374Y
PMID: 22764087
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: D374Y
PMID: 21862702
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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

Journal Of Lipid Research
ØL Holla, J Cameron, K Tveten, TB Strøm, KE Berge, JK Laerdahl, TP Leren
Publication Date: 2011-10

Variant appearance in text: PCSK9: D374Y
PMID: 21771976
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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 -