Variant ID: 1-55509687-A-C

NM_174936.3(PCSK9):c.379A>C;(p.S127R)

This variant was identified in 21 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: S127R
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



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: S127R
PubMed Link: 34948399
Variant Present in the following documents:
  • ijms-22-13602.pdf
View BVdb publication page



Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: PCSK9: S127R
PubMed Link: 33985584
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
Ying, Qidi Q; Chan, Dick C DC; Watts, Gerald F GF
Publication Date: 2021

Variant appearance in text: PCSK9: S127R
PubMed Link: 33643062
Variant Present in the following documents:
  • Main text
  • fphys-12-603910.pdf
View BVdb publication page



The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
  • fgene-11-572045.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: S127R
PubMed Link: 33244470
Variant Present in the following documents:
  • Main text
  • fcvm-07-582865.pdf
View BVdb publication page



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: S127R
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Genetics of Familial Hypercholesterolemia: New Insights.

Frontiers In Genetics
Vrablik, Michal M; Tichý, Lukas L; Freiberger, Tomas T; Blaha, Vladimir V; Satny, Martin M; Hubacek, Jaroslav A JA
Publication Date: 2020

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
  • fgene-11-574474.pdf
View BVdb publication page



In Silico Insights into Protein-protein Interaction Disruptive Mutations in the PCSK9-LDLR complex.

International Journal Of Molecular Sciences
Martin, William R WR; Lightstone, Felice C FC; Cheng, Feixiong F
Publication Date: 2020-02-25

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian Journal Of Clinical Biochemistry : Ijcb
Nuglozeh, Edem E; Fazaludeen, Mohammad Feroze MF; Hasona, Nabil N; Malm, Tarja T; Mayor, Luisito B LB; Al-Hazmi, Awdah A; Ashankyty, Ibraheem I
Publication Date: 2019-10

Variant appearance in text: PCSK9: S127R
PubMed Link: 31686731
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel strategies to target proprotein convertase subtilisin kexin 9: beyond monoclonal antibodies.

Cardiovascular Research
Seidah, Nabil G NG; Prat, Annik A; Pirillo, Angela A; Catapano, Alberico Luigi AL; Norata, Giuseppe Danilo GD
Publication Date: 2019-03-01

Variant appearance in text: PCSK9: S127R
PubMed Link: 30629143
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identifying the anti-inflammatory response to lipid lowering therapy: a position paper from the working group on atherosclerosis and vascular biology of the European Society of Cardiology.

Cardiovascular Research
Tuñón, José J; Badimón, Lina L; Bochaton-Piallat, Marie-Luce ML; Cariou, Bertrand B; Daemen, Mat J MJ; Egido, Jesus J; Evans, Paul C PC; Hoefer, Imo E IE; Ketelhuth, Daniel F J DFJ; Lutgens, Esther E; Matter, Christian M CM; Monaco, Claudia C; Steffens, Sabine S; Stroes, Erik E; Vindis, Cécile C; Weber, Christian C; Bäck, Magnus M
Publication Date: 2019-01-01

Variant appearance in text: PCSK9: S127R
PubMed Link: 30534957
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
Galvan, Adri M AM; Chorba, John S JS
Publication Date: 2019-01

Variant appearance in text: PCSK9: S127R
PubMed Link: 30463987
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
Pitts, Reynaria N RN; Eckel, Robert H RH
Publication Date: 2014-12

Variant appearance in text: PCSK9: S127R
PubMed Link: 30310488
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Relationship Between Coronary Artery Disease and Genetic Polymorphisms of Melanoma Inhibitory Activity 3.

Iranian Red Crescent Medical Journal
Zaimkohan, Hooshang H; Keramatipour, Mohammad M; Mirhafez, Seyed Reza SR; Tavakkoly-Bazzaz, Javad J; Tahooni, Azadeh A; Piryaei, Mohammad M; Ghayour-Mobarhan, Majid M; Ghaderian, Seyed Mohammad Hossein SM
Publication Date: 2016-09

Variant appearance in text: PCSK9: S127R
PubMed Link: 28180021
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
Kessler, Thorsten T; Vilne, Baiba B; Schunkert, Heribert H
Publication Date: 2016-07

Variant appearance in text: PCSK9: S127R
PubMed Link: 27189168
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
Wintjens, René R; Bozon, Dominique D; Belabbas, Khaldia K; MBou, Félicien F; Girardet, Jean-Philippe JP; Tounian, Patrick P; Jolly, Mathilde M; Boccara, Franck F; Cohen, Ariel A; Karsenty, Alexandra A; Dubern, Béatrice B; Carel, Jean-Claude JC; Azar-Kolakez, Ahlam A; Feillet, François F; Labarthe, François F; Gorsky, Anne-Marie Colin AM; Horovitz, Alice A; Tamarindi, Catherine C; Kieffer, Pierre P; Lienhardt, Anne A; Lascols, Olivier O; Di Filippo, Mathilde M; Dufernez, Fabienne F
Publication Date: 2016-03

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 26802169
Variant Present in the following documents:
  • Main text
View BVdb publication page



The roles of genetic polymorphisms and human immunodeficiency virus infection in lipid metabolism.

Biomed Research International
de Almeida, Elaine Regina Delicato ER; Reiche, Edna Maria Vissoci EM; Kallaur, Ana Paula AP; Flauzino, Tamires T; Watanabe, Maria Angelica Ehara MA
Publication Date: 2013

Variant appearance in text: PCSK9: Ser127Arg
PubMed Link: 24319689
Variant Present in the following documents:
  • Main text
View BVdb publication page



More on cholesterol trafficking in the body!

Oman Medical Journal
Al-Musalhi, Khawla K; Nair, Devaki R DR
Publication Date: 2013-03

Variant appearance in text: PCSK9: S127R
PubMed Link: 23599873
Variant Present in the following documents:
  • Main text
View BVdb publication page



c-IAP1 binds and processes PCSK9 protein: linking the c-IAP1 in a TNF-α pathway to PCSK9-mediated LDLR degradation pathway.

Molecules (Basel, Switzerland)
Xu, Weiming W; Liu, Lizhi L; Hornby, David D
Publication Date: 2012-10-15

Variant appearance in text: PCSK9: S127R
PubMed Link: 23085658
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A
Publication Date: 2012-12

Variant appearance in text: FH3: S127R
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
View BVdb publication page