Variant ID: 1-55057454-G-T

NM_174936.3(PCSK9):c.1120G>T;(p.D374Y)

This variant was identified in 185 publications

View hg19 version.




Publications:


Recent Advances on Familial Hypercholesterolemia in Children and Adolescents.

Biomedicines
Mainieri, Francesca F; Tagi, Veronica Maria VM; Chiarelli, Francesco F
Publication Date: 2022-04-30

Variant appearance in text: PCSK9: Asp374Tyr
PubMed Link: 35625781
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01043.pdf
View BVdb publication page



Focused Design of Novel Cyclic Peptides Endowed with GABARAP-Inhibiting Activity.

International Journal Of Molecular Sciences
Fassi, Enrico Mario Alessandro EMA; Garofalo, Mariangela M; Sgrignani, Jacopo J; Dei Cas, Michele M; Mori, Matteo M; Roda, Gabriella G; Cavalli, Andrea A; Grazioso, Giovanni G
Publication Date: 2022-05-03

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35563459
Variant Present in the following documents:
  • ijms-23-05070.pdf
View BVdb publication page



Diabetes and Familial Hypercholesterolemia: Interplay between Lipid and Glucose Metabolism.

Nutrients
González-Lleó, Ana M AM; Sánchez-Hernández, Rosa María RM; Boronat, Mauro M; Wägner, Ana M AM
Publication Date: 2022-04-03

Variant appearance in text: PCSK9: Asp374Tyr
PubMed Link: 35406116
Variant Present in the following documents:
  • nutrients-14-01503.pdf
View BVdb publication page



Circulating Proprotein Convertase Subtilisin/Kexin type 9 level independently predicts incident cardiovascular events and all-cause mortality in hemodialysis black Africans patients.

Bmc Nephrology
Kajingulu, François-Pantaléon Musungayi FM; Lepira, François Bompeka FB; Nkodila, Aliocha Natuhoyila AN; Makulo, Jean-Robert Rissassy JR; Mokoli, Vieux Momeme VM; Ekulu, Pepe Mfutu PM; Bukabau, Justine Busanga JB; Nlandu, Yannick Mayamba YM; Longo, Augustin Luzayadio AL; Nseka, Nazaire Mangani NM; Labriola, Laura L; Sumaili, Ernest Kiswaya EK
Publication Date: 2022-03-30

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35354429
Variant Present in the following documents:
  • 12882_2022_Article_2748.pdf
View BVdb publication page



Computational Design and Biological Evaluation of Analogs of Lupin Peptide P5 Endowed with Dual PCSK9/HMG-CoAR Inhibiting Activity.

Pharmaceutics
Lammi, Carmen C; Fassi, Enrico M A EMA; Li, Jianqiang J; Bartolomei, Martina M; Benigno, Giulia G; Roda, Gabriella G; Arnoldi, Anna A; Grazioso, Giovanni G
Publication Date: 2022-03-18

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35336039
Variant Present in the following documents:
  • pharmaceutics-14-00665.pdf
View BVdb publication page



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: D374Y
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open
Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV
Publication Date: 2022-03-01

Variant appearance in text: PCSK9: Asp374Tyr
PubMed Link: 35294538
Variant Present in the following documents:
  • jamanetwopen-e222687-s001.pdf
View BVdb publication page



Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International Journal Of Molecular Sciences
Grewal, Thomas T; Buechler, Christa C
Publication Date: 2022-01-19

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
  • ijms-23-01070.pdf
View BVdb publication page



Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoproteinemia Associated With Genetically Elevated Cardiovascular Risk.

Circulation. Genomic And Precision Medicine
Coassin, Stefan S; Chemello, Kevin K; Khantalin, Ilya I; Forer, Lukas L; Döttelmayer, Patricia P; Schönherr, Sebastian S; Grüneis, Rebecca R; Chong-Hong-Fong, Clément C; Nativel, Brice B; Ramin-Mangata, Stéphane S; Gallo, Antonio A; Roche, Mathias M; Mühlegger, Beatrix B; Gieger, Christian C; Peters, Annette A; Zschocke, Johannes J; Marimoutou, Catherine C; Meilhac, Olivier O; Lamina, Claudia C; Kronenberg, Florian F; Blanchard, Valentin V; Lambert, Gilles G
Publication Date: 2022-02-08

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489-s001.pdf
View BVdb publication page



PCSK9 as a Target for Development of a New Generation of Hypolipidemic Drugs.

Molecules (Basel, Switzerland)
Kuzmich, Nikolay N; Andresyuk, Elena E; Porozov, Yuri Y; Tarasov, Vadim V; Samsonov, Mikhail M; Preferanskaya, Nina N; Veselov, Valery V; Alyautdin, Renad R
Publication Date: 2022-01-10

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35056760
Variant Present in the following documents:
  • Main text
  • molecules-27-00434.pdf
View BVdb publication page



Impact of Soy β-Conglycinin Peptides on PCSK9 Protein Expression in HepG2 Cells.

Nutrients
Macchi, Chiara C; Greco, Maria Francesca MF; Ferri, Nicola N; Magni, Paolo P; Arnoldi, Anna A; Corsini, Alberto A; Sirtori, Cesare R CR; Ruscica, Massimiliano M; Lammi, Carmen C
Publication Date: 2021-12-31

Variant appearance in text: PCSK9: D374Y
PubMed Link: 35011066
Variant Present in the following documents:
  • nutrients-14-00193.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: D374Y
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
View BVdb publication page



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: D374Y
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



PCSK9 regulates the NODAL signaling pathway and cellular proliferation in hiPSCs.

Stem Cell Reports
Roudaut, Meryl M; Idriss, Salam S; Caillaud, Amandine A; Girardeau, Aurore A; Rimbert, Antoine A; Champon, Benoite B; David, Amandine A; Lévêque, Antoine A; Arnaud, Lucie L; Pichelin, Matthieu M; Prieur, Xavier X; Prat, Annik A; Seidah, Nabil G NG; Zibara, Kazem K; Le May, Cedric C; Cariou, Bertrand B; Si-Tayeb, Karim K
Publication Date: 2021-10-26

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34739847
Variant Present in the following documents:
  • Main text
  • mmc3.pdf
  • mmc1.pdf
  • main.pdf
View BVdb publication page



Research methods for animal models of atherosclerosis (Review).

Molecular Medicine Reports
Zhang, Yali Y; Fatima, Mahreen M; Hou, Siyuan S; Bai, Liang L; Zhao, Sihai S; Liu, Enqi E
Publication Date: 2021-12

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34713295
Variant Present in the following documents:
  • Main text
  • mmr-24-06-12511.pdf
View BVdb publication page



Genetic testing for Familial Hypercholesterolaemia - Past, Present and Future.

Journal Of Lipid Research
Futema, Marta M; Taylor-Beadling, Alison A; Williams, Maggie M; Humphries, Steve E SE
Publication Date: 2021-10-16

Variant appearance in text: PCSK9: 1120G>T; Asp374Tyr
PubMed Link: 34666015
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



LDL-cholesterol and PCSK9 in patients with familial hypercholesterolemia: influence of PCSK9 variants under lipid-lowering therapy.

Journal Of Clinical Laboratory Analysis
Hamasaki, Masato M; Sakane, Naoki N; Hara, Kazuo K; Kotani, Kazuhiko K
Publication Date: 2021-11

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34652028
Variant Present in the following documents:
  • JCLA-35-e24056.pdf
View BVdb publication page



Adeno-Associated Virus-Mediated Gain-of-Function mPCSK9 Expression in the Mouse Induces Hypercholesterolemia, Monocytosis, Neutrophilia, and a Hypercoagulative State.

Frontiers In Cardiovascular Medicine
Louloudis, Georgios G; Ambrosini, Samuele S; Paneni, Francesco F; Camici, Giovanni G GG; Benke, Dietmar D; Klohs, Jan J
Publication Date: 2021

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34631822
Variant Present in the following documents:
  • Main text
  • fcvm-08-718741.pdf
View BVdb publication page



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: PCSK9: D374Y
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Lupin-Derived Bioactive Peptides: Intestinal Transport, Bioavailability and Health Benefits.

Nutrients
Okagu, Innocent U IU; Ndefo, Joseph C JC; Aham, Emmanuel C EC; Obeme-Nmom, Joy I JI; Agboinghale, Precious E PE; Aguchem, Rita N RN; Nechi, Regina N RN; Lammi, Carmen C
Publication Date: 2021-09-18

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34579144
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D374Y
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Genes
Lee, Wen-Jane WJ; Chuang, Han-Ni HN; Chen, Yi-Ming YM; Liang, Kae-Woei KW; Tung, Hsin H; Chen, Jun-Peng JP; Lee, I-Te IT; Wang, Jun-Sing JS; Lin, Ching-Heng CH; Lin, Hsueh-Ju HJ; Sheu, Wayne Huey-Herng WH; Lee, Wen-Lieng WL; Hsiao, Tzu-Hung TH
Publication Date: 2021-09-14

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34573395
Variant Present in the following documents:
  • genes-12-01413.pdf
View BVdb publication page



Association of Serum Anti-PCSK9 Antibody Levels with Favorable Postoperative Prognosis in Esophageal Cancer.

Frontiers In Oncology
Ito, Masaaki M; Hiwasa, Takaki T; Oshima, Yoko Y; Yajima, Satoshi S; Suzuki, Takashi T; Nanami, Tatsuki T; Sumazaki, Makoto M; Shiratori, Fumiaki F; Funahashi, Kimihiko K; Li, Shu-Yang SY; Iwadate, Yasuo Y; Yamagata, Hiroki H; Jambaljav, Byambasteren B; Takemoto, Minoru M; Yokote, Koutaro K; Takizawa, Hirotaka H; Shimada, Hideaki H
Publication Date: 2021

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34504788
Variant Present in the following documents:
  • fonc-11-708039.pdf
View BVdb publication page



PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
Matías-Pérez, D D; Pérez-Santiago, A D AD; Sánchez Medina, M A MA; Alpuche Osorno, J J JJ; García-Montalvo, I A IA
Publication Date: 2021-06

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34447653
Variant Present in the following documents:
  • Main text
  • bjmg-24-005.pdf
View BVdb publication page



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: N/A
PubMed Link: 34356856
Variant Present in the following documents:
View BVdb publication page



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: 1120G>T; Asp374Tyr; rs137852912
PubMed Link: 34341098
Variant Present in the following documents:
  • openhrt-2021-001710supp001.xlsx
View BVdb publication page



Inclisiran-Silencing the Cholesterol, Speaking up the Prognosis.

Journal Of Clinical Medicine
Rogula, Sylwester S; Błażejowska, Ewelina E; Gąsecka, Aleksandra A; Szarpak, Łukasz Ł; Jaguszewski, Milosz J MJ; Mazurek, Tomasz T; Filipiak, Krzysztof J KJ
Publication Date: 2021-06-02

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34199468
Variant Present in the following documents:
  • jcm-10-02467.pdf
View BVdb publication page



Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors.

Scientific Reports
Gai, Min-Tao MT; Adi, Dilare D; Chen, Xiao-Cui XC; Liu, Fen F; Xie, Xiang X; Yang, Yi-Ning YN; Gao, Xiao-Ming XM; Ma, Xiang X; Fu, Zhen-Yan ZY; Ma, Yi-Tong YT; Chen, Bang-Dang BD
Publication Date: 2021-06-01

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34075144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Antibody-Based Therapeutics for Atherosclerosis and Cardiovascular Diseases.

International Journal Of Molecular Sciences
Ji, Eunhye E; Lee, Sahmin S
Publication Date: 2021-05-28

Variant appearance in text: PCSK9: D374Y
PubMed Link: 34071276
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D374Y
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted Therapy in Cardiovascular Disease: A Precision Therapy Era.

Frontiers In Pharmacology
Xu, Mengda M; Song, Jiangping J
Publication Date: 2021

Variant appearance in text: PCSK9: D374Y
PubMed Link: 33935716
Variant Present in the following documents:
  • Main text
  • fphar-12-623674.pdf
View BVdb publication page



Toward the Effective Bioengineering of a Pathological Tissue for Cardiovascular Disease Modeling: Old Strategies and New Frontiers for Prevention, Diagnosis, and Therapy.

Frontiers In Cardiovascular Medicine
Iop, Laura L
Publication Date: 2020

Variant appearance in text: PCSK9: D374Y
PubMed Link: 33748193
Variant Present in the following documents:
  • fcvm-07-591583.pdf
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: D374Y
PubMed Link: 33643062
Variant Present in the following documents:
  • Main text
  • fphys-12-603910.pdf
View BVdb publication page



Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Biomedical Reports
Miroshnikova, Valentina V VV; Romanova, Olga V OV; Ivanova, Olga N ON; Fedyakov, Mikhail A MA; Panteleeva, Alexandra A AA; Barbitoff, Yury A YA; Muzalevskaya, Maria V MV; Urazgildeeva, Sorejya A SA; Gurevich, Victor S VS; Urazov, Stanislav P SP; Scherbak, Sergey G SG; Sarana, Andrey M AM; Semenova, Natalia A NA; Anisimova, Inga V IV; Guseva, Darya M DM; Pchelina, Sofya N SN; Glotov, Andrey S AS; Zakharova, Ekaterina Y EY; Glotov, Oleg S OS
Publication Date: 2021-01

Variant appearance in text: PCSK9: D374Y
PubMed Link: 33269076
Variant Present in the following documents:
  • br-14-01-01391.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: D374Y
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



Autocrine effects of PCSK9 on cardiomyocytes.

Basic Research In Cardiology
Wolf, Annemarie A; Kutsche, Hanna Sarah HS; Schreckenberg, Rolf R; Weber, Martin M; Li, Ling L; Rohrbach, Susanne S; Schulz, Rainer R; Schlüter, Klaus-Dieter KD
Publication Date: 2020-11-10

Variant appearance in text: PCSK9: D374Y
PubMed Link: 33169229
Variant Present in the following documents:
  • Main text
  • 395_2020_Article_824.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: Asp374Tyr
PubMed Link: 33133164
Variant Present in the following documents:
  • Main text
  • fgene-11-574474.pdf
View BVdb publication page



Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine
Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR
Publication Date: 2020-10

Variant appearance in text: rs137852912
PubMed Link: 33079599
Variant Present in the following documents:
  • hcg-13-515-s001.pdf
View BVdb publication page



PCSK9: A Key Target for the Treatment of Cardiovascular Disease (CVD).

Advanced Pharmaceutical Bulletin
Sobati, Saeideh S; Shakouri, Amir A; Edalati, Mahdi M; Mohammadnejad, Daryoush D; Parvan, Reza R; Masoumi, Javad J; Abdolalizadeh, Jalal J
Publication Date: 2020-09

Variant appearance in text: PCSK9: D374Y
PubMed Link: 33062601
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dare to Compare. Development of Atherosclerotic Lesions in Human, Mouse, and Zebrafish.

Frontiers In Cardiovascular Medicine
Vedder, Viviana L VL; Aherrahrou, Zouhair Z; Erdmann, Jeanette J
Publication Date: 2020

Variant appearance in text: PCSK9: Asp374Tyr
PubMed Link: 32714944
Variant Present in the following documents:
  • Main text
View BVdb publication page



Application of Genetically Engineered Pigs in Biomedical Research.

Genes
Hryhorowicz, Magdalena M; Lipiński, Daniel D; Hryhorowicz, Szymon S; Nowak-Terpiłowska, Agnieszka A; Ryczek, Natalia N; Zeyland, Joanna J
Publication Date: 2020-06-19

Variant appearance in text: PCSK9: D374Y
PubMed Link: 32575461
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of castration on atherosclerosis in Yucatan minipigs with genetic hypercholesterolemia.

Plos One
Shim, Jeong T JT; Schmidt, Nikolaj N; Nogales, Paula P; Larsen, Torben T; Sørensen, Charlotte B CB; Bentzon, Jacob F JF
Publication Date: 2020

Variant appearance in text: PCSK9: D374Y
PubMed Link: 32502216
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex as a Biological Variable in Atherosclerosis.

Circulation Research
Man, Joshua J JJ; Beckman, Joshua A JA; Jaffe, Iris Z IZ
Publication Date: 2020-04-24

Variant appearance in text: PCSK9: D374Y
PubMed Link: 32324497
Variant Present in the following documents:
  • Main text
View BVdb publication page



How Computational Chemistry and Drug Delivery Techniques Can Support the Development of New Anticancer Drugs.

Molecules (Basel, Switzerland)
Garofalo, Mariangela M; Grazioso, Giovanni G; Cavalli, Andrea A; Sgrignani, Jacopo J
Publication Date: 2020-04-10

Variant appearance in text: PCSK9: D374Y
PubMed Link: 32290224
Variant Present in the following documents:
  • Main text
View BVdb publication page



Accumulation of Pericardial Fat Is Associated With Alterations in Heart Rate Variability Patterns in Hypercholesterolemic Pigs.

Circulation. Arrhythmia And Electrophysiology
Uceda, Domingo E DE; Zhu, Xiang-Yang XY; Woollard, John R JR; Ferguson, Christopher M CM; Patras, Ioannis I; Carlson, Daniel F DF; Asirvatham, Samuel J SJ; Lerman, Amir A; Lerman, Lilach O LO
Publication Date: 2020-04

Variant appearance in text: PCSK9: D374Y
PubMed Link: 32189516
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis methods in familial hypercholesterolemia.

Anatolian Journal Of Cardiology
Moldovan, Valeriu V; Banescu, Claudia C; Dobreanu, Minodora M
Publication Date: 2020-02

Variant appearance in text: PCSK9: D374Y; rs137852912
PubMed Link: 32120369
Variant Present in the following documents:
  • Main text
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: Asp374Tyr
PubMed Link: 32106405
Variant Present in the following documents:
  • Main text
View BVdb publication page



A transient amphipathic helix in the prodomain of PCSK9 facilitates binding to low-density lipoprotein particles.

The Journal Of Biological Chemistry
Sarkar, Samantha K SK; Foo, Alexander C Y ACY; Matyas, Angela A; Asikhia, Ikhuosho I; Kosenko, Tanja T; Goto, Natalie K NK; Vergara-Jaque, Ariela A; Lagace, Thomas A TA
Publication Date: 2020-02-21

Variant appearance in text: PCSK9: D374Y
PubMed Link: 31949048
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: D374Y
PubMed Link: 31686731
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: D374Y
PubMed Link: 31553664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modelling of atherosclerosis in genetically modified animals.

American Journal Of Translational Research
Mushenkova, Natalia V NV; Summerhill, Volha I VI; Silaeva, Yulia Yu YY; Deykin, Alexey V AV; Orekhov, Alexander N AN
Publication Date: 2019

Variant appearance in text: PCSK9: D374Y
PubMed Link: 31497187
Variant Present in the following documents:
  • Main text
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Lupin Peptide T9 (GQEQSHQDEGVIVR) Modulates the Mutant PCSK9D374Y Pathway: in vitro Characterization of its Dual Hypocholesterolemic Behavior.

Nutrients
Lammi, Carmen C; Bollati, Carlotta C; Lecca, Davide D; Abbracchio, Maria Pia MP; Arnoldi, Anna A
Publication Date: 2019-07-20

Variant appearance in text: PCSK9: D374Y
PubMed Link: 31330826
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An update on the tools for creating transgenic animal models of human diseases - focus on atherosclerosis.

Brazilian Journal Of Medical And Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
Volobueva, A S AS; Orekhov, A N AN; Deykin, A V AV
Publication Date: 2019

Variant appearance in text: PCSK9: D374Y
PubMed Link: 31038578
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Inhibition of PCSK9D374Y/LDLR Protein-Protein Interaction by Computationally Designed T9 Lupin Peptide.

Acs Medicinal Chemistry Letters
Lammi, Carmen C; Sgrignani, Jacopo J; Roda, Gabriella G; Arnoldi, Anna A; Grazioso, Giovanni G
Publication Date: 2019-04-11

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30996774
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Updates on Approaches for Studying Atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
Wu, Congqing C; Daugherty, Alan A; Lu, Hong S HS
Publication Date: 2019-04

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30917052
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Targeting proprotein convertase subtilisin/kexin type 9 in mice and monkeys.

Current Opinion In Lipidology
Wang, Ya Y; Ma, Murong M; Wang, Jian-An JA; Daugherty, Alan A; Lu, Hong S HS
Publication Date: 2019-04

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30844857
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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: D374Y
PubMed Link: 30629143
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Macrophage-derived netrin-1 promotes abdominal aortic aneurysm formation by activating MMP3 in vascular smooth muscle cells.

Nature Communications
Hadi, Tarik T; Boytard, Ludovic L; Silvestro, Michele M; Alebrahim, Dornazsadat D; Jacob, Samson S; Feinstein, Jordyn J; Barone, Krista K; Spiro, Wes W; Hutchison, Susan S; Simon, Russell R; Rateri, Debra D; Pinet, Florence F; Fenyo, David D; Adelman, Mark M; Moore, Kathryn J KJ; Eltzschig, Holger K HK; Daugherty, Alan A; Ramkhelawon, Bhama B
Publication Date: 2018-11-27

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30479344
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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: D374Y
PubMed Link: 30463987
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Biodynamics: A novel quasi-first principles theory on the fundamental mechanisms of cellular function/dysfunction and the pharmacological modulation thereof.

Plos One
Selvaggio, Gianluca G; Pearlstein, Robert Alan RA
Publication Date: 2018

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30383749
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Blending Gagne's Instructional Model with Peyton's Approach to Design an Introductory Bioinformatics Lesson Plan for Medical Students: Proof-of-Concept Study.

Jmir Medical Education
Tambi, Richa R; Bayoumi, Riad R; Lansberg, Peter P; Banerjee, Yajnavalka Y
Publication Date: 2018-10-25

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30361192
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Neurovascular dysfunction in vascular dementia, Alzheimer's and atherosclerosis.

Bmc Neuroscience
Shabir, Osman O; Berwick, Jason J; Francis, Sheila E SE
Publication Date: 2018-10-17

Variant appearance in text: PCSK9: D374Y
PubMed Link: 30333009
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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: D374Y
PubMed Link: 30310488
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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: D374Y; rs137852912
PubMed Link: 29724976
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Ossabaw Pigs With a PCSK9 Gain-of-Function Mutation Develop Accelerated Coronary Atherosclerotic Lesions: A Novel Model for Preclinical Studies.

Journal Of The American Heart Association
Yuan, Fang F; Guo, Liang L; Park, Kyoung-Ha KH; Woollard, John R JR; Taek-Geun, Kwon K; Jiang, Kai K; Melkamu, Tamene T; Zang, Bin B; Smith, Samantha L SL; Fahrenkrug, Scott C SC; Kolodgie, Frank D FD; Lerman, Amir A; Virmani, Renu R; Lerman, Lilach O LO; Carlson, Daniel F DF
Publication Date: 2018-03-23

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29572319
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Non-Native Conformational Isomers of the Catalytic Domain of PCSK9 Induce an Immune Response, Reduce Lipids and Increase LDL Receptor Levels.

International Journal Of Molecular Sciences
Jiang, Chuantao C; Nischal, Hersharan H; Sun, Hua H; Li, Li L; Cao, Ying Y; Wei, Peng P; Chang, Jui-Yoa JY; Teng, Ba-Bie BB
Publication Date: 2018-02-24

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29495280
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RGC-32 (Response Gene to Complement 32) Deficiency Protects Endothelial Cells From Inflammation and Attenuates Atherosclerosis.

Arteriosclerosis, Thrombosis, And Vascular Biology
Cui, Xiao-Bing XB; Luan, Jun-Na JN; Dong, Kun K; Chen, Sisi S; Wang, Yongyi Y; Watford, Wendy T WT; Chen, Shi-You SY
Publication Date: 2018-04

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29449334
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Genetically engineered pigs as models for human disease.

Disease Models & Mechanisms
Perleberg, Carolin C; Kind, Alexander A; Schnieke, Angelika A
Publication Date: 2018-01-22

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29419487
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Computational Study of PCSK9-EGFA Complex with Effective Polarizable Bond Force Field.

Frontiers In Molecular Biosciences
Chen, Jian J; Duan, Lili L; Ji, Changge C; Zhang, John Z H JZH
Publication Date: 2017

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29379787
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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: PCSK9: D374Y
PubMed Link: 29259136
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The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports
Fairoozy, R H RH; Futema, M M; Vakili, R R; Abbaszadegan, M R MR; Hosseini, S S; Aminzadeh, M M; Zaeri, H H; Mobini, M M; Humphries, S E SE; Sahebkar, A A
Publication Date: 2017-12-06

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29213121
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Peripheral vascular atherosclerosis in a novel PCSK9 gain-of-function mutant Ossabaw miniature pig model.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Hedayat, Ahmad F AF; Park, Kyoung-Ha KH; Kwon, Taek-Geun TG; Woollard, John R JR; Jiang, Kai K; Carlson, Daniel F DF; Lerman, Amir A; Lerman, Lilach O LO
Publication Date: 2018-02

Variant appearance in text: PCSK9: D374Y
PubMed Link: 29175268
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Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Scientific Reports
Di Taranto, Maria Donata MD; Benito-Vicente, Asier A; Giacobbe, Carola C; Uribe, Kepa Belloso KB; Rubba, Paolo P; Etxebarria, Aitor A; Guardamagna, Ornella O; Gentile, Marco M; Martín, Cesar C; Fortunato, Giuliana G
Publication Date: 2017-11-10

Variant appearance in text: PCSK9: Asp374Tyr
PubMed Link: 29127338
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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: D374Y
PubMed Link: 28971102
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Treatment-Induced Viral Cure of Hepatitis C Virus-Infected Patients Involves a Dynamic Interplay among three Important Molecular Players in Lipid Homeostasis: Circulating microRNA (miR)-24, miR-223, and Proprotein Convertase Subtilisin/Kexin Type 9.

Ebiomedicine
Hyrina, Anastasia A; Olmstead, Andrea D AD; Steven, Paul P; Krajden, Mel M; Tam, Edward E; Jean, François F
Publication Date: 2017-09

Variant appearance in text: PCSK9: D374Y
PubMed Link: 28864162
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Increased half-life and enhanced potency of Fc-modified human PCSK9 monoclonal antibodies in primates.

Plos One
Shen, Yijun Y; Li, Hua H; Zhao, Li L; Li, Gang G; Chen, Ben B; Guo, Qingsong Q; Gao, Bei B; Wu, Jinsong J; Yang, Tong T; Jin, Li L; Su, Yong Y
Publication Date: 2017

Variant appearance in text: PCSK9: D374Y
PubMed Link: 28817679
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