Publications:

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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: R215H

PubMed Link: 35162992

Variant Present in the following documents:

• Main text

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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: R215H

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: R215H

PubMed Link: 34606887

Variant Present in the following documents:

• Main text
• main.pdf

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Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology

Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K

Publication Date: 2021-10

Variant appearance in text: PCSK9: Arg215His

PubMed Link: 34407635

Variant Present in the following documents:

• atv-41-2616-s001.pdf
• atv-41-2616.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: R215H

PubMed Link: 34356856

Variant Present in the following documents:

• Main text
• biomedicines-09-00793.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 644G>A; Arg215His; rs794728683

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx

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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: Arg215His

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: R215H

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications

Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH

Publication Date: 2019-10-25

Variant appearance in text: PCSK9: Arg215His

PubMed Link: 31653860

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

Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM

Publication Date: 2018-02-09

Variant appearance in text: PCSK9: R215H

PubMed Link: 29259136

Variant Present in the following documents:

• Main text

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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

Wierød, Lene L; Cameron, Jamie J; Strøm, Thea Bismo TB; Leren, Trond P TP

Publication Date: 2016-12

Variant appearance in text: PCSK9: R215H

PubMed Link: 27896130

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: Arg215His

PubMed Link: 26374825

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: R215H

PubMed Link: 23135270

Variant Present in the following documents:

• Main text

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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

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: PCSK9: R215H

PubMed Link: 21862702

Variant Present in the following documents:

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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: R215H

PubMed Link: 21147780

Variant Present in the following documents:

• Main text

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