Variant ID: 1-55523127-G-T

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

This variant was identified in 171 publications



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • fcvm-07-00109.pdf
  • Main text
View BVdb publication page


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:
  • Main text
  • Supplemental file
  • genes-11-00670.pdf
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • molecules-25-01756.pdf
  • Main text
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
  • Supplemental file
  • ijms-21-01550.pdf
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
View BVdb publication page


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
View BVdb publication page


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.pdf
  • ml8b00464_si_001.pdf
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
  • nihms-1022298.pdf
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
  • jlrM087189.pdf
View BVdb publication page


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:
  • Main text
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
  • pnas.1615475114.sapp.pdf
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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
View BVdb publication page


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:
  • Main text
  • hcg-8-823-s003.pdf
View BVdb publication page


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
View BVdb publication page


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 -