Publications:

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Genetics, Safety, Cost-Effectiveness, and Accessibility of Injectable Lipid-Lowering Agents: A Narrative Review.

Journal Of Lipids

Sindi, Abdulmajeed Abdulghani A AAA

Publication Date: 2023

Variant appearance in text: PCSK9: S127R

PubMed Link: 36935878

Variant Present in the following documents:

• JL2023-2025490.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PCSK9: 381T>A; Ser127Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Cells

Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ

Publication Date: 2022-12-19

Variant appearance in text: PCSK9: S127R

PubMed Link: 36552895

Variant Present in the following documents:

• Main text
• cells-11-04132.pdf

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Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine

Abifadel, Marianne M; Boileau, Catherine C

Publication Date: 2022-10-04

Variant appearance in text: PCSK9: Ser127Arg

PubMed Link: 36196022

Variant Present in the following documents:

• Main text
• JOIM-293-144.pdf

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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

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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:

• Main text
• ijms-22-13602.pdf

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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:

• Main text
• ijms-22-13602.pdf

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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: S127R

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: N/A

PubMed Link: 34606887

Variant Present in the following documents:

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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

Variant appearance in text: N/A

PubMed Link: 34606887

Variant Present in the following documents:

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: PCSK9: S127R; rs28942111

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.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: S127R; rs28942111

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: 381T>A; Ser127Arg; rs28942111

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

View BVdb publication page

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Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Levels and Cardiometabolic Risk Factors: A Population-Based Cohort Study.

Frontiers In Cardiovascular Medicine

Shi, Jie J; Li, Xiaoyong X; Zhang, Weiwei W; Niu, Yixin Y; Lin, Ning N; Zhang, Hongmei H; Ning, Guang G; Fan, Jiangao J; Qin, Li L; Su, Qing Q; Yang, Zhen Z

Publication Date: 2021

Variant appearance in text: PCSK9: S127R

PubMed Link: 34041285

Variant Present in the following documents:

• Main text
• fcvm-08-664583.pdf

View BVdb publication page

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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: N/A

PubMed Link: 33985584

Variant Present in the following documents:

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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

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Comprehensive characterization of protein-protein interactions perturbed by disease mutations.

Nature Genetics

Cheng, Feixiong F; Zhao, Junfei J; Wang, Yang Y; Lu, Weiqiang W; Liu, Zehui Z; Zhou, Yadi Y; Martin, William R WR; Wang, Ruisheng R; Huang, Jin J; Hao, Tong T; Yue, Hong H; Ma, Jing J; Hou, Yuan Y; Castrillon, Jessica A JA; Fang, Jiansong J; Lathia, Justin D JD; Keri, Ruth A RA; Lightstone, Felice C FC; Antman, Elliott Marshall EM; Rabadan, Raul R; Hill, David E DE; Eng, Charis C; Vidal, Marc M; Loscalzo, Joseph J

Publication Date: 2021-03

Variant appearance in text: N/A

PubMed Link: 33558758

Variant Present in the following documents:

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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

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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: S127R

PubMed Link: 33244470

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: S127R

PubMed Link: 33173529

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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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
• ijms-21-01550.pdf

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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

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PCSK9: 381T>A; Ser127Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: PCSK9: S127R; rs28942111

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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

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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

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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

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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

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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research

Shapiro, Michael D MD; Tavori, Hagai H; Fazio, Sergio S

Publication Date: 2018-05-11

Variant appearance in text: N/A

PubMed Link: 29748367

Variant Present in the following documents:

View BVdb publication page

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Case-control study on PCSK9 R496W (rs374603772) and D374Y (rs137852912) mutations in Turkish patients with primary dyslipidemia.

Anatolian Journal Of Cardiology

Eroğlu, Zuhal Z; Tetik Vardarlı, Aslı A; Düzgün, Zekeriya Z; Gündüz, Cumhur C; Bozok Çetintaş, Vildan V; Kayıkçıoğlu, Meral M

Publication Date: 2018-05

Variant appearance in text: PCSK9: S127R; rs28942111

PubMed Link: 29724976

Variant Present in the following documents:

• Main text
• AJC-19-334.pdf

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Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.

The Journal Of Biological Chemistry

Lebeau, Paul P; Platko, Khrystyna K; Al-Hashimi, Ali A AA; Byun, Jae Hyun JH; Lhoták, Šárka Š; Holzapfel, Nicholas N; Gyulay, Gabriel G; Igdoura, Suleiman A SA; Cool, David R DR; Trigatti, Bernardo B; Seidah, Nabil G NG; Austin, Richard C RC

Publication Date: 2018-05-11

Variant appearance in text: N/A

PubMed Link: 29593095

Variant Present in the following documents:

View BVdb publication page

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New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.

Scientific Reports

Elbitar, Sandy S; Susan-Resiga, Delia D; Ghaleb, Youmna Y; El Khoury, Petra P; Peloso, Gina G; Stitziel, Nathan N; Rabès, Jean-Pierre JP; Carreau, Valérie V; Hamelin, Josée J; Ben-Djoudi-Ouadda, Ali A; Bruckert, Eric E; Boileau, Catherine C; Seidah, Nabil G NG; Varret, Mathilde M; Abifadel, Marianne M

Publication Date: 2018-01-31

Variant appearance in text: PCSK9: S127R

PubMed Link: 29386597

Variant Present in the following documents:

• Main text
• 41598_2018_Article_20281.pdf
• 41598_2018_20281_MOESM1_ESM.pdf

View BVdb publication page

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Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg

Ghaleb, Youmna Y; Elbitar, Sandy S; El Khoury, Petra P; Bruckert, Eric E; Carreau, Valérie V; Carrié, Alain A; Moulin, Philippe P; Di-Filippo, Mathilde M; Charriere, Sybil S; Iliozer, Harout H; Farnier, Michel M; Luc, Gérald G; Rabès, Jean-Pierre JP; Boileau, Catherine C; Abifadel, Marianne M; Varret, Mathilde M

Publication Date: 2018-04

Variant appearance in text: PCSK9: 381T>A; Ser127Arg; rs28942111

PubMed Link: 29374275

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: N/A

PubMed Link: 29259136

Variant Present in the following documents:

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Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International

Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J

Publication Date: 2017

Variant appearance in text: PCSK9: S127R

PubMed Link: 29250119

Variant Present in the following documents:

• Main text
• SCI2017-4378947.pdf

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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice

Seidah, Nabil G NG

Publication Date: 2017-03-31

Variant appearance in text: PCSK9: S127R

PubMed Link: 28971102

Variant Present in the following documents:

• Main text
• gcsp-2017-1-e201702.pdf

View BVdb publication page

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PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia.

Anatolian Journal Of Cardiology

Kaya, Esra E; Kayıkçıoğlu, Meral M; Tetik Vardarlı, Aslı A; Eroğlu, Zuhal Z; Payzın, Serdar S; Can, Levent L

Publication Date: 2017-10

Variant appearance in text: PCSK9: S127R; rs28942111

PubMed Link: 28777095

Variant Present in the following documents:

• Main text

View BVdb publication page

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APP, APLP2 and LRP1 interact with PCSK9 but are not required for PCSK9-mediated degradation of the LDLR in vivo.

Biochimica Et Biophysica Acta. Molecular And Cell Biology Of Lipids

Fu, Ting T; Guan, YangYang Y; Xu, Junjie J; Wang, Yan Y

Publication Date: 2017-09

Variant appearance in text: N/A

PubMed Link: 28495363

Variant Present in the following documents:

View BVdb publication page

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Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology

Glerup, Simon S; Schulz, Rainer R; Laufs, Ulrich U; Schlüter, Klaus-Dieter KD

Publication Date: 2017-05

Variant appearance in text: N/A

PubMed Link: 28439730

Variant Present in the following documents:

View BVdb publication page

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PCSK9 and Atherosclerosis - Lipids and Beyond.

Journal Of Atherosclerosis And Thrombosis

Shapiro, Michael D MD; Fazio, Sergio S

Publication Date: 2017-05-01

Variant appearance in text: PCSK9: S127R

PubMed Link: 28302950

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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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: S127R

PubMed Link: 27896130

Variant Present in the following documents:

• Main text
• main.pdf

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Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research

Norata, Giuseppe Danilo GD; Tavori, Hagai H; Pirillo, Angela A; Fazio, Sergio S; Catapano, Alberico L AL

Publication Date: 2016-10

Variant appearance in text: N/A

PubMed Link: 27496869

Variant Present in the following documents:

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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: S127R

PubMed Link: 27280970

Variant Present in the following documents:

• Main text
• pone.0157230.pdf

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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

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Human PCSK9 promotes hepatic lipogenesis and atherosclerosis development via apoE- and LDLR-mediated mechanisms.

Cardiovascular Research

Tavori, Hagai H; Giunzioni, Ilaria I; Predazzi, Irene M IM; Plubell, Deanna D; Shivinsky, Anna A; Miles, Joshua J; Devay, Rachel M RM; Liang, Hong H; Rashid, Shirya S; Linton, MacRae F MF; Fazio, Sergio S

Publication Date: 2016-05-15

Variant appearance in text: N/A

PubMed Link: 26980204

Variant Present in the following documents:

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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

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