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

---