Variant ID: 1-55525313-A-G

NM_174936.3(PCSK9):c.1658A>G;(p.H553R)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Development of a novel, fully human, anti-PCSK9 antibody with potent hypolipidemic activity by utilizing phage display-based strategy.

Ebiomedicine
Xu, Menglong M; Lei, Gaoxin G; Chen, Manman M; Wang, Ke K; Lv, Wenxiu W; Zhang, Panpan P; Hu, Tuo T; Gao, Jie J; Lu, Chenchen C; Mei, Ying Y; Xu, Zhipan Z; Bai, Zhengli Z; Hu, Huajing H; Jiang, Yiwei Y; Tan, Shuhua S
Publication Date: 2021-03

Variant appearance in text: PCSK9: H553R
PubMed Link: 33647772
Variant Present in the following documents:
  • Main text
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Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Publication Date: 2019-02

Variant appearance in text: PCSK9: H553R; rs28362270
PubMed Link: 30779729
Variant Present in the following documents:
  • Main text
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Development of vaccine for dyslipidemia targeted to a proprotein convertase subtilisin/kexin type 9 (PCSK9) epitope in mice.

Plos One
Kawakami, Ryo R; Nozato, Yoichi Y; Nakagami, Hironori H; Ikeda, Yuka Y; Shimamura, Munehisa M; Yoshida, Shota S; Sun, Jiao J; Kawano, Tomohiro T; Takami, Yoichi Y; Noma, Takahisa T; Rakugi, Hiromi H; Minamino, Tetsuo T; Morishita, Ryuichi R
Publication Date: 2018

Variant appearance in text: PCSK9: H553R
PubMed Link: 29438441
Variant Present in the following documents:
  • Main text
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Screening for familial hypercholesterolaemia in childhood: Avon Longitudinal Study of Parents and Children (ALSPAC).

Atherosclerosis
Futema, Marta M; Cooper, Jackie A JA; Charakida, Marietta M; Boustred, Christopher C; Sattar, Naveed N; Deanfield, John J; Lawlor, Debbie A DA; Timpson, Nicholas J NJ; , ; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2017-05

Variant appearance in text: PCSK9: His553Arg
PubMed Link: 28349888
Variant Present in the following documents:
  • Main text
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Comparing expression and activity of PCSK9 in SPRET/EiJ and C57BL/6J mouse strains shows lack of correlation with plasma cholesterol.

Molecular Genetics And Metabolism Reports
Sirois, Francine F; Chrétien, Michel M; Mbikay, Majambu M
Publication Date: 2017-03

Variant appearance in text: PCSK9: H553R
PubMed Link: 27995077
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
Poirier, Steve S; Hamouda, Hocine Ait HA; Villeneuve, Louis L; Demers, Annie A; Mayer, Gaétan G
Publication Date: 2016

Variant appearance in text: PCSK9: H553R
PubMed Link: 27280970
Variant Present in the following documents:
  • Main text
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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: H553R
PubMed Link: 26195630
Variant Present in the following documents:
  • Main text
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR
Publication Date: 2015

Variant appearance in text: PCSK9: 1658A>G; H553R; rs28362270
PubMed Link: 25904937
Variant Present in the following documents:
  • Main text
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: PCSK9: H553R; rs28362270
PubMed Link: 25412415
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: H553R
PubMed Link: 24808179
Variant Present in the following documents:
  • Main text
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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
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: H553R
PubMed Link: 23663650
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: H553R
PubMed Link: 23105118
Variant Present in the following documents:
  • Main text
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Testing for an unusual distribution of rare variants.

Plos Genetics
Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ
Publication Date: 2011-03

Variant appearance in text: PCSK9: H553R
PubMed Link: 21408211
Variant Present in the following documents:
  • Main text
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A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.

The Journal Of Biological Chemistry
Ni, Yan G YG; Condra, Jon H JH; Orsatti, Laura L; Shen, Xun X; Di Marco, Stefania S; Pandit, Shilpa S; Bottomley, Matthew J MJ; Ruggeri, Lionello L; Cummings, Richard T RT; Cubbon, Rose M RM; Santoro, Joseph C JC; Ehrhardt, Anka A; Lewis, Dale D; Fisher, Timothy S TS; Ha, Sookhee S; Njimoluh, Leila L; Wood, Dana D DD; Hammond, Holly A HA; Wisniewski, Douglas D; Volpari, Cinzia C; Noto, Alessia A; Lo Surdo, Paola P; Hubbard, Brian B; Carfí, Andrea A; Sitlani, Ayesha A
Publication Date: 2010-04-23

Variant appearance in text: PCSK9: H553R
PubMed Link: 20172854
Variant Present in the following documents:
  • Main text
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH
Publication Date: 2006-03

Variant appearance in text:
PubMed Link: 16465619
Variant Present in the following documents:
  • Main text
View BVdb publication page