Variant ID: 1-55518081-A-C

NM_174936.3(PCSK9):c.654A>C;(p.R218S)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Insight into the Evolving Role of PCSK9.

Metabolites
Maligłówka, Mateusz M; Kosowski, Michał M; Hachuła, Marcin M; Cyrnek, Marcin M; Bułdak, Łukasz Ł; Basiak, Marcin M; Bołdys, Aleksandra A; Machnik, Grzegorz G; Bułdak, Rafał Jakub RJ; Okopień, Bogusław B
Publication Date: 2022-03-17

Variant appearance in text: PCSK9: R218S
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
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Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: PCSK9: R218S
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
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A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.

International Journal Of Molecular Sciences
Uribe, Kepa B KB; Chemello, Kevin K; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Galicia-Garcia, Unai U; Bourane, Steeve S; Jaafar, Ali K AK; Lambert, Gilles G; Martín, César C
Publication Date: 2021-12-18

Variant appearance in text: PCSK9: R218S
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
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Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine
Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW
Publication Date: 2021

Variant appearance in text: PCSK9: R218S
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
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The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal Of Lipid Research
Seidah, Nabil G NG
Publication Date: 2021-10-01

Variant appearance in text: PCSK9: R218S
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
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PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: PCSK9: R218S
PubMed Link: 34447653
Variant Present in the following documents:
  • Main text
  • bjmg-24-005.pdf
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PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: R218S
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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Insights into the kinetics and dynamics of the furin-cleaved form of PCSK9.

Journal Of Lipid Research
Oleaga, Carlota C; Hay, Joshua J; Gurcan, Emma E; David, Larry L LL; Mueller, Paul A PA; Tavori, Hagai H; Shapiro, Michael D MD; Pamir, Nathalie N; Fazio, Sergio S
Publication Date: 2020-11-23

Variant appearance in text: PCSK9: R218S
PubMed Link: 33429337
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
View BVdb publication page



PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers In Cardiovascular Medicine
Li, Yan-Yan YY; Wang, Hui H; Yang, Xin-Xing XX; Geng, Hong-Yu HY; Gong, Ge G; Lu, Xin-Zheng XZ
Publication Date: 2020

Variant appearance in text: PCSK9: R218S
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
  • fcvm-07-582865.pdf
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PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: R218S
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
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Fragment-based design of small molecule PCSK9 inhibitors using simulated annealing of chemical potential simulations.

Plos One
Guarnieri, Frank F; Kulp, John L JL; Kulp, John L JL; Cloudsdale, Ian S IS
Publication Date: 2019

Variant appearance in text: PCSK9: R218S
PubMed Link: 31805108
Variant Present in the following documents:
  • Main text
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
Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M
Publication Date: 2018-05

Variant appearance in text: PCSK9: R218S
PubMed Link: 29724976
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
Seidah, Nabil G NG
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: R218S
PubMed Link: 28971102
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
Zhang, Pei-Ying PY
Publication Date: 2017-03

Variant appearance in text: PCSK9: R218S
PubMed Link: 28450903
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
Glerup, Simon S; Schulz, Rainer R; Laufs, Ulrich U; Schlüter, Klaus-Dieter KD
Publication Date: 2017-05

Variant appearance in text: PCSK9: R218S
PubMed Link: 28439730
Variant Present in the following documents:
  • Main text
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
Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP
Publication Date: 2016-12

Variant appearance in text: PCSK9: R218S
PubMed Link: 27896130
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Unbiased Mass Spectrometry Approach Identifies Glypican-3 as an Interactor of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR) in Hepatocellular Carcinoma Cells.

The Journal Of Biological Chemistry
Ly, Kévin K; Essalmani, Rachid R; Desjardins, Roxane R; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2016-11-18

Variant appearance in text: PCSK9: R218S
PubMed Link: 27758865
Variant Present in the following documents:
  • Main text
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Proteolytic cleavage of antigen extends the durability of an anti-PCSK9 monoclonal antibody.

Journal Of Lipid Research
Schroeder, Krista M KM; Beyer, Thomas P TP; Hansen, Ryan J RJ; Han, Bomie B; Pickard, Richard T RT; Wroblewski, Victor J VJ; Kowala, Mark C MC; Eacho, Patrick I PI
Publication Date: 2015-11

Variant appearance in text: PCSK9: R218S
PubMed Link: 26392590
Variant Present in the following documents:
  • Main text
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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
Hopkins, Paul N PN; Defesche, Joep J; Fouchier, Sigrid W SW; Bruckert, Eric E; Luc, Gérald G; Cariou, Bertrand B; Sjouke, Barbara B; Leren, Trond P TP; Harada-Shiba, Mariko M; Mabuchi, Hiroshi H; Rabès, Jean-Pierre JP; Carrié, Alain A; van Heyningen, Charles C; Carreau, Valérie V; Farnier, Michel M; Teoh, Yee P YP; Bourbon, Mafalda M; Kawashiri, Masa-Aki MA; Nohara, Atsushi A; Soran, Handrean H; Marais, A David AD; Tada, Hayato H; Abifadel, Marianne M; Boileau, Catherine C; Chanu, Bernard B; Katsuda, Shoji S; Kishimoto, Ichiro I; Lambert, Gilles G; Makino, Hisashi H; Miyamoto, Yoshihiro Y; Pichelin, Matthieu M; Yagi, Kunimasa K; Yamagishi, Masakazu M; Zair, Yassine Y; Mellis, Scott S; Yancopoulos, George D GD; Stahl, Neil N; Mendoza, Johanna J; Du, Yunling Y; Hamon, Sara S; Krempf, Michel M; Swergold, Gary D GD
Publication Date: 2015-12

Variant appearance in text: PCSK9: Arg218Ser
PubMed Link: 26374825
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P
Publication Date: 2015-09-18

Variant appearance in text: PCSK9: R218S
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
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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
Ly, Kévin K; Saavedra, Yascara Grisel Luna YG; Canuel, Maryssa M; Routhier, Sophie S; Desjardins, Roxane R; Hamelin, Josée J; Mayne, Janice J; Lazure, Claude C; Seidah, Nabil G NG; Day, Robert R
Publication Date: 2014-06-20

Variant appearance in text: PCSK9: R218S
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
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Isolation and characterization of the circulating truncated form of PCSK9.

Journal Of Lipid Research
Han, Bomie B; Eacho, Patrick I PI; Knierman, Michael D MD; Troutt, Jason S JS; Konrad, Robert J RJ; Yu, Xiaohong X; Schroeder, Krista M KM
Publication Date: 2014-07

Variant appearance in text: PCSK9: R218S
PubMed Link: 24776539
Variant Present in the following documents:
  • Main text
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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
Poirier, Steve S; Mayer, Gaétan G
Publication Date: 2013

Variant appearance in text: PCSK9: R218S
PubMed Link: 24115837
Variant Present in the following documents:
  • Main text
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Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal Of Biological Chemistry
Lipari, Michael T MT; Li, Wei W; Moran, Paul P; Kong-Beltran, Monica M; Sai, Tao T; Lai, Joyce J; Lin, S Jack SJ; Kolumam, Ganesh G; Zavala-Solorio, Jose J; Izrael-Tomasevic, Anita A; Arnott, David D; Wang, Jianyong J; Peterson, Andrew S AS; Kirchhofer, Daniel D
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: R218S
PubMed Link: 23135270
Variant Present in the following documents:
  • Main text
View BVdb publication page



The PCSK9 decade.

Journal Of Lipid Research
Lambert, Gilles G; Sjouke, Barbara B; Choque, Benjamin B; Kastelein, John J P JJ; Hovingh, G Kees GK
Publication Date: 2012-12

Variant appearance in text: PCSK9: R218S
PubMed Link: 22811413
Variant Present in the following documents:
  • Main text
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In vivo evidence that furin from hepatocytes inactivates PCSK9.

The Journal Of Biological Chemistry
Essalmani, Rachid R; Susan-Resiga, Delia D; Chamberland, Ann A; Abifadel, Marianne M; Creemers, John W JW; Boileau, Catherine C; Seidah, Nabil G NG; Prat, Annik A
Publication Date: 2011-02-11

Variant appearance in text: PCSK9: R218S
PubMed Link: 21147780
Variant Present in the following documents:
  • Main text
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Effects of the prosegment and pH on the activity of PCSK9: evidence for additional processing events.

The Journal Of Biological Chemistry
Benjannet, Suzanne S; Saavedra, Yascara Grisel Luna YG; Hamelin, Josée J; Asselin, Marie-Claude MC; Essalmani, Rachid R; Pasquato, Antonella A; Lemaire, Peter P; Duke, Gerald G; Miao, Bowman B; Duclos, Franck F; Parker, Rex R; Mayer, Gaétan G; Seidah, Nabil G NG
Publication Date: 2010-12-24

Variant appearance in text: PCSK9: R218S
PubMed Link: 20937814
Variant Present in the following documents:
  • Main text
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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: R218S
PubMed Link: 18197702
Variant Present in the following documents:
  • Main text
View BVdb publication page