Publications:

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The Multifaceted Biology of PCSK9.

Endocrine Reviews

Seidah, Nabil G NG; Prat, Annik A

Publication Date: 2022-05-12

Variant appearance in text: PCSK9: S668R

PubMed Link: 35552680

Variant Present in the following documents:

• Main text

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Acute Coronary Syndrome Developed in a 17-year-old Boy with Sitosterolemia Comorbid with Takayasu Arteritis: A Rare Case Report and Review of the Literature.

Internal Medicine (Tokyo, Japan)

Iyama, Keita K; Ikeda, Satoshi S; Koga, Seiji S; Yoshimuta, Tsuyoshi T; Kawano, Hiroaki H; Tsuji, Sosuke S; Ando, Koji K; Matsushima, Kayoko K; Tada, Hayato H; Kawashiri, Masa-Aki MA; Kawakami, Atsushi A; Maemura, Koji K

Publication Date: 2022-04-15

Variant appearance in text: PCSK9: 2004C>A; S668R

PubMed Link: 34615826

Variant Present in the following documents:

• 1349-7235-61-1169.pdf

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PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences

Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I

Publication Date: 2021-05-30

Variant appearance in text: PCSK9: S668R

PubMed Link: 34070931

Variant Present in the following documents:

• Main text
• ijms-22-05880.pdf

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The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Genes

Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Zotova, Evgenia E; Sotnikova, Evgeniia E; Petukhova, Anna A; Zharikova, Anastasia A; Malyshev, Pavel P; Rozhkova, Tatyana T; Blokhina, Anastasia A; Limonova, Alena A; Ramensky, Vasily V; Divashuk, Mikhail M; Khasanova, Zukhra Z; Bukaeva, Anna A; Kurilova, Olga O; Skirko, Olga O; Pokrovskaya, Maria M; Mikova, Valeriya V; Snigir, Ekaterina E; Akinshina, Alexsandra A; Mitrofanov, Sergey S; Kashtanova, Daria D; Makarov, Valentin V; Kukharchuk, Valeriy V; Boytsov, Sergey S; Yudin, Sergey S; Drapkina, Oxana O

Publication Date: 2021-01-06

Variant appearance in text: PCSK9: 2004C>A; Ser668Arg; rs762298323

PubMed Link: 33418990

Variant Present in the following documents:

• Main text
• genes-12-00066.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PCSK9: 2004C>A; Ser668Arg; rs762298323

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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

Arteriosclerosis, Thrombosis, And Vascular Biology

Ben Djoudi Ouadda, Ali A; Gauthier, Marie-Soleil MS; Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Black, Miles M; Marcinkiewicz, Jadwiga J; Forget, Diane D; Hamelin, Josée J; Evagelidis, Alexandra A; Ly, Kevin K; Day, Robert R; Galarneau, Luc L; Corbin, Francois F; Coulombe, Benoit B; Çaku, Artuela A; Tagliabracci, Vincent S VS; Seidah, Nabil G NG

Publication Date: 2019-10

Variant appearance in text: PCSK9: S668R

PubMed Link: 31553664

Variant Present in the following documents:

• Main text

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Cyclase-associated protein 1 is a binding partner of proprotein convertase subtilisin/kexin type-9 and is required for the degradation of low-density lipoprotein receptors by proprotein convertase subtilisin/kexin type-9.

European Heart Journal

Jang, Hyun-Duk HD; Lee, Sang Eun SE; Yang, Jimin J; Lee, Hyun-Chae HC; Shin, Dasom D; Lee, Hwan H; Lee, Jaewon J; Jin, Sooryeonhwa S; Kim, Soungchan S; Lee, Seung Ji SJ; You, Jihye J; Park, Hyun-Woo HW; Nam, Ky-Youb KY; Lee, Sang-Hak SH; Park, Sahng Wook SW; Kim, Jin-Soo JS; Kim, Sang-Yeob SY; Kwon, Yoo-Wook YW; Kwak, Soo Heon SH; Yang, Han-Mo HM; Kim, Hyo-Soo HS

Publication Date: 2020-01-07

Variant appearance in text: PCSK9: S668R

PubMed Link: 31419281

Variant Present in the following documents:

• Main text
• ehz566.pdf

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: PCSK9: S668R; rs762298323

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x5.xls, sheet 1
• emm2017142x4.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HCHOLA3: S668R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: S668R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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

Le, Quoc-Tuan QT; Blanchet, Matthieu M; Seidah, Nabil G NG; Labonté, Patrick P

Publication Date: 2015-09-18

Variant appearance in text: PCSK9: S668R

PubMed Link: 26195630

Variant Present in the following documents:

• Main text

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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

Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG

Publication Date: 2012-12-21

Variant appearance in text: PCSK9: S668R

PubMed Link: 23105118

Variant Present in the following documents:

• Main text

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