Variant ID: 1-55505647-G-T

NM_174936.3(PCSK9):c.137G>T;(p.R46L)

This variant was identified in 279 publications

View GRCh38 version.




Publications:


A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.

Children (Basel, Switzerland)
Thajer, Alexandra A; Baumgartner, Margot M; Jorda, Anselm A; Hallwirth, Ulrike U; Lischka, Julia J; Greber-Platzer, Susanne S
Publication Date: 2022-04-21

Variant appearance in text: PCSK9: 137G>T; Arg46Leu
PubMed Link: 35626767
Variant Present in the following documents:
  • children-09-00590.pdf
View BVdb publication page



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: Arg46Leu
PubMed Link: 35625781
Variant Present in the following documents:
  • Main text
  • biomedicines-10-01043.pdf
View BVdb publication page



New Treatment Targets and Innovative Lipid-Lowering Therapies in Very-High-Risk Patients with Cardiovascular Disease.

Biomedicines
Burger, Achim Leo AL; Pogran, Edita E; Muthspiel, Marie M; Kaufmann, Christoph Clemens CC; Jäger, Bernhard B; Huber, Kurt K
Publication Date: 2022-04-22

Variant appearance in text: PCSK9: R46L
PubMed Link: 35625707
Variant Present in the following documents:
  • biomedicines-10-00970.pdf
View BVdb publication page



Genome-wide and phenome-wide analysis of ideal cardiovascular health in the VA Million Veteran Program.

Plos One
Huang, Rose D L RDL; Nguyen, Xuan-Mai T XT; Peloso, Gina M GM; Trinder, Mark M; Posner, Daniel C DC; Aragam, Krishna G KG; Ho, Yuk-Lam YL; Lynch, Julie A JA; Damrauer, Scott M SM; Chang, Kyong-Mi KM; Tsao, Philip S PS; Natarajan, Pradeep P; Assimes, Themistocles T; Gaziano, J Michael JM; Djousse, Luc L; Cho, Kelly K; Wilson, Peter W F PWF; Huffman, Jennifer E JE; O'Donnell, Christopher J CJ; ,
Publication Date: 2022

Variant appearance in text: rs11591147
PubMed Link: 35613103
Variant Present in the following documents:
  • Main text
  • pone.0267900.pdf
View BVdb publication page



Innate immune cells in the pathophysiology of calcific aortic valve disease: lessons to be learned from atherosclerotic cardiovascular disease?

Basic Research In Cardiology
Broeders, Wieteke W; Bekkering, Siroon S; El Messaoudi, Saloua S; Joosten, Leo A B LAB; van Royen, Niels N; Riksen, Niels P NP
Publication Date: 2022-05-17

Variant appearance in text: PCSK9: R46L
PubMed Link: 35581364
Variant Present in the following documents:
  • 395_2022_Article_935.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: R46L; rs11591147
PubMed Link: 35323699
Variant Present in the following documents:
  • metabolites-12-00256.pdf
View BVdb publication page



The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



In silico identification of single nucleotide variations at CpG sites regulating CpG island existence and size.

Scientific Reports
Shyamala, Nivas N; Kongettira, Chaitra Lava CL; Puranam, Kaushik K; Kupsal, Keerthi K; Kummari, Ramanjaneyulu R; Padala, Chiranjeevi C; Hanumanth, Surekha Rani SR
Publication Date: 2022-03-04

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 35246549
Variant Present in the following documents:
  • 41598_2022_Article_5198.pdf
View BVdb publication page



Weighted Co-Expression Network Analysis Identifies RNF181 as a Causal Gene of Coronary Artery Disease.

Frontiers In Genetics
Dang, Ruoyu R; Qu, Bojian B; Guo, Kaimin K; Zhou, Shuiping S; Sun, He H; Wang, Wenjia W; Han, Jihong J; Feng, Ke K; Lin, Jianping J; Hu, Yunhui Y
Publication Date: 2021

Variant appearance in text: PCSK9: Arg46Leu; rs11591147
PubMed Link: 35222523
Variant Present in the following documents:
  • fgene-12-818813.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: R46L; rs11591147
PubMed Link: 35162992
Variant Present in the following documents:
  • Main text
  • ijms-23-01070.pdf
View BVdb publication page



Associations of genetically proxied inhibition of HMG-CoA reductase, NPC1L1, and PCSK9 with breast cancer and prostate cancer.

Breast Cancer Research : Bcr
Sun, Lulu L; Ding, Huan H; Jia, Yiming Y; Shi, Mengyao M; Guo, Daoxia D; Yang, Pinni P; Wang, Yu Y; Liu, Fanghua F; Zhang, Yonghong Y; Zhu, Zhengbao Z
Publication Date: 2022-02-12

Variant appearance in text: rs11591147
PubMed Link: 35151363
Variant Present in the following documents:
  • Main text
  • 13058_2022_Article_1508.pdf
View BVdb publication page



Machine Learning Revealed Ferroptosis Features and a Novel Ferroptosis-Based Classification for Diagnosis in Acute Myocardial Infarction.

Frontiers In Genetics
Huang, Dan D; Zheng, Shiya S; Liu, Zhuyuan Z; Zhu, Kongbo K; Zhi, Hong H; Ma, Genshan G
Publication Date: 2022

Variant appearance in text: rs11591147
PubMed Link: 35145551
Variant Present in the following documents:
  • Main text
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: R46L
PubMed Link: 35133173
Variant Present in the following documents:
  • hcg-15-e003489.pdf
View BVdb publication page



Genetic Predisposition to Low-Density Lipoprotein Cholesterol May Increase Risks of Both Individual and Familial Alzheimer's Disease.

Frontiers In Medicine
Tan, Jiang-Shan JS; Hu, Meng-Jin MJ; Yang, Yan-Min YM; Yang, Yue-Jin YJ
Publication Date: 2021

Variant appearance in text: rs11591147
PubMed Link: 35087849
Variant Present in the following documents:
  • Main text
View BVdb publication page



NAFLD fibrosis score is correlated with PCSK9 and improves outcome prediction of PCSK9 in patients with chest pain: a cohort study.

Lipids In Health And Disease
Peng, Jia J; Liu, Ming-Ming MM; Jin, Jing-Lu JL; Cao, Ye-Xuan YX; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; Zhu, Cheng-Gang CG; Dong, Qian Q; Sun, Jing J; Xu, Rui-Xia RX; Li, Jian-Jun JJ
Publication Date: 2022-01-07

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 34996457
Variant Present in the following documents:
  • 12944_2021_Article_1610.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: R46L
PubMed Link: 34948399
Variant Present in the following documents:
  • Main text
  • ijms-22-13602.pdf
View BVdb publication page



Towards Personalized Therapy of Aortic Stenosis.

Journal Of Personalized Medicine
Mazur, Piotr P; Kopytek, Magdalena M; Ząbczyk, Michał M; Undas, Anetta A; Natorska, Joanna J
Publication Date: 2021-12-03

Variant appearance in text: PCSK9: R46L
PubMed Link: 34945764
Variant Present in the following documents:
  • jpm-11-01292.pdf
View BVdb publication page



Additive Effects of Genetic Interleukin-6 Signaling Downregulation and Low-Density Lipoprotein Cholesterol Lowering on Cardiovascular Disease: A 2×2 Factorial Mendelian Randomization Analysis.

Journal Of The American Heart Association
Georgakis, Marios K MK; Malik, Rainer R; Burgess, Stephen S; Dichgans, Martin M
Publication Date: 2021-12-20

Variant appearance in text: rs11591147
PubMed Link: 34927447
Variant Present in the following documents:
  • JAH3-11-e023277.pdf
  • JAH3-11-e023277-s001.pdf
View BVdb publication page



Association Between Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Concentrations and Cardiovascular Events in Cardiovascular Disease: A Systemic Review and Meta-Analysis.

Frontiers In Cardiovascular Medicine
Liu, Jiahui J; Fan, Fangfang F; Luo, Xingyu X; Ji, Wenjun W; Liu, Yaokun Y; Zhang, Yan Y; Zheng, Bo B
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34888364
Variant Present in the following documents:
  • Main text
  • fcvm-08-758956.pdf
View BVdb publication page



Variations in TM6SF2, PCSK9 and PCSK7 genes and risk of hepatic steatosis after liver transplantation: a cross-sectional study.

Bmc Gastroenterology
Eshraghian, Ahad A; Moasser, Elham E; Azarpira, Negar N; Fattahi, Mohammad Reza MR; Nikeghbalian, Saman S; Malek-Hosseini, Seyed Ali SA; Geramizadeh, Bita B
Publication Date: 2021-12-07

Variant appearance in text: rs11591147
PubMed Link: 34876018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel therapeutic targets and agents for pediatric dyslipidemia.

Therapeutic Advances In Endocrinology And Metabolism
Sunil, Bhuvana B; Foster, Christy C; Wilson, Don P DP; Ashraf, Ambika P AP
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34868544
Variant Present in the following documents:
  • 10.1177_20420188211058323.pdf
View BVdb publication page



Pcsk9 Deletion Promotes Murine Nonalcoholic Steatohepatitis and Hepatic Carcinogenesis: Role of Cholesterol.

Hepatology Communications
Ioannou, George N GN; Lee, Sum P SP; Linsley, Peter S PS; Gersuk, Vivian V; Yeh, Matthew M MM; Chen, Yen-Ying YY; Peng, Yi-Jen YJ; Dutta, Moumita M; Mascarinas, Gabby G; Molla, Bruk B; Cui, Julia Yue JY; Savard, Christopher C
Publication Date: 2021-11-24

Variant appearance in text: PCSK9: R46L
PubMed Link: 34816633
Variant Present in the following documents:
  • HEP4-6-780.pdf
View BVdb publication page



Gene Therapy for Cardiovascular Disease: Basic Research and Clinical Prospects.

Frontiers In Cardiovascular Medicine
Cao, Genmao G; Xuan, Xuezhen X; Zhang, Ruijing R; Hu, Jie J; Dong, Honglin H
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 34805315
Variant Present in the following documents:
  • fcvm-08-760140.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: R46L
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition
Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K
Publication Date: 2021

Variant appearance in text: rs11591147
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
View BVdb publication page



Genetics Is of the Essence to Face NAFLD.

Biomedicines
Meroni, Marica M; Longo, Miriam M; Tria, Giada G; Dongiovanni, Paola P
Publication Date: 2021-09-30

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 34680476
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01359.pdf
View BVdb publication page



Serum calcium and 25-hydroxyvitamin D in relation to longevity, cardiovascular disease and cancer: a Mendelian randomization study.

Npj Genomic Medicine
Yuan, Shuai S; Baron, John A JA; Michaëlsson, Karl K; Larsson, Susanna C SC
Publication Date: 2021-10-14

Variant appearance in text: rs11591147
PubMed Link: 34650087
Variant Present in the following documents:
  • 41525_2021_250_MOESM1_ESM.pdf
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: 137G>T; Arg46Leu
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: R46L
PubMed Link: 34573395
Variant Present in the following documents:
  • genes-12-01413.pdf
View BVdb publication page



Modern Approaches to Lower Lipoprotein(a) Concentrations and Consequences for Cardiovascular Diseases.

Biomedicines
Korneva, Victoria A VA; Kuznetsova, Tatjana Yurjevna TY; Julius, Ulrich U
Publication Date: 2021-09-20

Variant appearance in text: PCSK9: R46L
PubMed Link: 34572458
Variant Present in the following documents:
  • biomedicines-09-01271.pdf
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs11591147
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
View BVdb publication page



Asialoglycoprotein receptor 1 is a novel PCSK9-independent ligand of liver LDLR cleaved by furin.

The Journal Of Biological Chemistry
Susan-Resiga, Delia D; Girard, Emmanuelle E; Essalmani, Rachid R; Roubtsova, Anna A; Marcinkiewicz, Jadwiga J; Derbali, Rabeb M RM; Evagelidis, Alexandra A; Byun, Jae H JH; Lebeau, Paul F PF; Austin, Richard C RC; Seidah, Nabil G NG
Publication Date: 2021-10

Variant appearance in text: PCSK9: R46L
PubMed Link: 34508778
Variant Present in the following documents:
  • Main text
  • main.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: R46L
PubMed Link: 34504788
Variant Present in the following documents:
  • fonc-11-708039.pdf
View BVdb publication page



Can Clinicians Start Prescribing Inclisiran for Hypercholesterolemia Today? A Review of Clinical Studies for Internal Medicine Physicians and Endocrinologists.

Cureus
Jahangir, Abdullah A; Sahra, Syeda S; Krzyzak, Michael M
Publication Date: 2021-07

Variant appearance in text: PCSK9: R46L
PubMed Link: 34462692
Variant Present in the following documents:
  • cureus-0013-00000016664.pdf
View BVdb publication page



Mapping gene and gene pathways associated with coronary artery disease: a CARDIoGRAM exome and multi-ancestry UK biobank analysis.

Scientific Reports
Hariharan, Praveen P; Dupuis, Josée J
Publication Date: 2021-08-12

Variant appearance in text: rs11591147
PubMed Link: 34385509
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_95637.pdf
View BVdb publication page



Association between the rs615563 variant of PCSK9 gene and circulating lipids and Type 2 diabetes.

Bmc Research Notes
Taghizadeh Jazdani, Samira S; Shahbazian, Hajieh Bibi HB; Cheraghian, Bahman B; Jalali, Mohammad Taha MT; Mohammadtaghvaei, Narges N
Publication Date: 2021-08-11

Variant appearance in text: PCSK9: R46L
PubMed Link: 34380558
Variant Present in the following documents:
  • Main text
  • 13104_2021_Article_5723.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: PCSK9: R46L; rs11591147
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
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: 137G>T; Arg46Leu; rs11591147
PubMed Link: 34341098
Variant Present in the following documents:
  • Main text
  • openhrt-2021-001710supp001.xlsx
  • openhrt-2021-001710.pdf
View BVdb publication page



PCSK9 deficiency rewires heart metabolism and drives heart failure with preserved ejection fraction.

European Heart Journal
Da Dalt, Lorenzo L; Castiglioni, Laura L; Baragetti, Andrea A; Audano, Matteo M; Svecla, Monika M; Bonacina, Fabrizia F; Pedretti, Silvia S; Uboldi, Patrizia P; Benzoni, Patrizia P; Giannetti, Federica F; Barbuti, Andrea A; Pellegatta, Fabio F; Indino, Serena S; Donetti, Elena E; Sironi, Luigi L; Mitro, Nico N; Catapano, Alberico Luigi AL; Norata, Giuseppe Danilo GD
Publication Date: 2021-08-21

Variant appearance in text: PCSK9: R46L
PubMed Link: 34252181
Variant Present in the following documents:
  • Main text
  • ehab431.pdf
View BVdb publication page



A phenome-wide association study of genetically mimicked statins.

Bmc Medicine
Li, Shun S; Schooling, C M CM
Publication Date: 2021-06-30

Variant appearance in text: rs11591147
PubMed Link: 34187478
Variant Present in the following documents:
  • Main text
  • 12916_2021_Article_2013.pdf
View BVdb publication page



Construction of point mutation rabbits using CRISPR/Cas9.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences
Yan, Kunning K; Zhang, Ting T; Zha, Yiwen Y; Liang, Jingyan J; Cheng, Yong Y
Publication Date: 2021-04-25

Variant appearance in text: PCSK9: R46L
PubMed Link: 34137224
Variant Present in the following documents:
  • Main text
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: R46L
PubMed Link: 34075144
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: R46L
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R46L; rs11591147
PubMed Link: 34041285
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations for two biological age measures point to distinct aging phenotypes.

Aging Cell
Kuo, Chia-Ling CL; Pilling, Luke C LC; Liu, Zuyun Z; Atkins, Janice L JL; Levine, Morgan E ME
Publication Date: 2021-06

Variant appearance in text: rs11591147
PubMed Link: 34038024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing analysis of semi-supercentenarians.

Elife
Garagnani, Paolo P; Marquis, Julien J; Delledonne, Massimo M; Pirazzini, Chiara C; Marasco, Elena E; Kwiatkowska, Katarzyna Malgorzata KM; Iannuzzi, Vincenzo V; Bacalini, Maria Giulia MG; Valsesia, Armand A; Carayol, Jerome J; Raymond, Frederic F; Ferrarini, Alberto A; Xumerle, Luciano L; Collino, Sebastiano S; Mari, Daniela D; Arosio, Beatrice B; Casati, Martina M; Ferri, Evelyn E; Monti, Daniela D; Nacmias, Benedetta B; Sorbi, Sandro S; Luiselli, Donata D; Pettener, Davide D; Castellani, Gastone G; Sala, Claudia C; Passarino, Giuseppe G; De Rango, Francesco F; D'Aquila, Patrizia P; Bertamini, Luca L; Martinelli, Nicola N; Girelli, Domenico D; Olivieri, Oliviero O; Giuliani, Cristina C; Descombes, Patrick P; Franceschi, Claudio C
Publication Date: 2021-05-04

Variant appearance in text: rs11591147
PubMed Link: 33941312
Variant Present in the following documents:
  • elife-57849-supp16.pdf
  • elife-57849-supp19.pdf
View BVdb publication page



Statistical Impact of Sample Size and Imbalance on Multivariate Analysis in silico and A Case Study in the UK Biobank.

Amia ... Annual Symposium Proceedings. Amia Symposium
Zhang, Xinyuan X; Li, Ruowang R; Ritchie, Marylyn D MD
Publication Date: 2020

Variant appearance in text: rs11591147
PubMed Link: 33936514
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of PCSK9 Gene Are Associated with Subclinical Atherosclerosis and Cardiometabolic Parameters in Mexicans. The GEA Project.

Diagnostics (Basel, Switzerland)
Zamarrón-Licona, Erasmo E; Rodríguez-Pérez, José Manuel JM; Posadas-Sánchez, Rosalinda R; Vargas-Alarcón, Gilberto G; Baños-González, Manuel Alfonso MA; Borgonio-Cuadra, Verónica Marusa VM; Pérez-Hernández, Nonanzit N
Publication Date: 2021-04-26

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 33925815
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00774.pdf
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PCSK9 Induces Rat Smooth Muscle Cell Proliferation and Counteracts the Pleiotropic Effects of Simvastatin.

International Journal Of Molecular Sciences
Lupo, Maria Giovanna MG; Marchianò, Silvia S; Adorni, Maria Pia MP; Zimetti, Francesca F; Ruscica, Massimiliano M; Greco, Maria Francesca MF; Corsini, Alberto A; Ferri, Nicola N
Publication Date: 2021-04-16

Variant appearance in text: PCSK9: R46L
PubMed Link: 33923431
Variant Present in the following documents:
  • Main text
  • ijms-22-04114.pdf
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PCSK9 and the Gut-Liver-Brain Axis: A Novel Therapeutic Target for Immune Regulation in Alcohol Use Disorder.

Journal Of Clinical Medicine
Lee, Ji Soo JS; O'Connell, Emma M EM; Pacher, Pal P; Lohoff, Falk W FW
Publication Date: 2021-04-18

Variant appearance in text: PCSK9: R46L; rs11591147
PubMed Link: 33919550
Variant Present in the following documents:
  • Main text
  • jcm-10-01758.pdf
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Using genetic variants to evaluate the causal effect of cholesterol lowering on head and neck cancer risk: A Mendelian randomization study.

Plos Genetics
Gormley, Mark M; Yarmolinsky, James J; Dudding, Tom T; Burrows, Kimberley K; Martin, Richard M RM; Thomas, Steven S; Tyrrell, Jessica J; Brennan, Paul P; Pring, Miranda M; Boccia, Stefania S; Olshan, Andrew F AF; Diergaarde, Brenda B; Hung, Rayjean J RJ; Liu, Geoffrey G; Legge, Danny D; Tajara, Eloiza H EH; Severino, Patricia P; Lacko, Martin M; Ness, Andrew R AR; Davey Smith, George G; Vincent, Emma E EE; Richmond, Rebecca C RC
Publication Date: 2021-04

Variant appearance in text: rs11591147
PubMed Link: 33886544
Variant Present in the following documents:
  • pgen.1009525.s020.pdf
  • pgen.1009525.s016.pdf
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Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Endocrinology And Metabolism (Seoul, Korea)
Tomlinson, Brian B; Patil, Nivritti Gajanan NG; Fok, Manson M; Lam, Christopher Wai Kei CWK
Publication Date: 2021-04

Variant appearance in text: PCSK9: 137G>T; rs11591147
PubMed Link: 33866776
Variant Present in the following documents:
  • Main text
  • enm-2021-964.pdf
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Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors in aortic stenosis - Is this the light at the end of the tunnel for patients with aortic stenosis?

Indian Heart Journal
Agstam, Sourabh S; Agarwal, Tushar T; Gupta, Anunay A; Bansal, Sandeep S
Publication Date: 2021

Variant appearance in text: PCSK9: R46L
PubMed Link: 33865531
Variant Present in the following documents:
  • main.pdf
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PCSK9 promotes tumor growth by inhibiting tumor cell apoptosis in hepatocellular carcinoma.

Experimental Hematology & Oncology
Zhang, Shi-Zhe SZ; Zhu, Xiao-Dong XD; Feng, Long-Hai LH; Li, Xiao-Long XL; Liu, Xue-Feng XF; Sun, Hui-Chuan HC; Tang, Zhao-You ZY
Publication Date: 2021-03-31

Variant appearance in text: PCSK9: R46L
PubMed Link: 33789749
Variant Present in the following documents:
  • 40164_2021_Article_218.pdf
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Acetaldehyde Dehydrogenase 2 regulates HMG-CoA reductase stability and cholesterol synthesis in the liver.

Redox Biology
Zhong, Shanshan S; Li, Luxiao L; Liang, Ningning N; Zhang, Lili L; Xu, Xiaodong X; Chen, Shiting S; Yin, Huiyong H
Publication Date: 2021-05

Variant appearance in text: rs11591147
PubMed Link: 33740503
Variant Present in the following documents:
  • Main text
  • main.pdf
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Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia.

Frontiers In Genetics
Moradi, Arman A; Maleki, Majid M; Ghaemmaghami, Zahra Z; Khajali, Zahra Z; Noohi, Feridoun F; Moghadam, Maryam Hosseini MH; Kalyinia, Samira S; Mowla, Seyed Javad SJ; Seidah, Nabil G NG; Malakootian, Mahshid M
Publication Date: 2021

Variant appearance in text: PCSK9: 137G>T; Arg46Leu
PubMed Link: 33732287
Variant Present in the following documents:
  • Main text
  • fgene-12-625959.pdf
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Lipoprotein metabolism in familial hypercholesterolemia.

Journal Of Lipid Research
Chemello, Kévin K; García-Nafría, Javier J; Gallo, Antonio A; Martín, Cesar C; Lambert, Gilles G; Blom, Dirk D
Publication Date: 2021-03-03

Variant appearance in text: PCSK9: R46L
PubMed Link: 33675717
Variant Present in the following documents:
  • main.pdf
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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: R46L
PubMed Link: 33643062
Variant Present in the following documents:
  • Main text
  • fphys-12-603910.pdf
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Integrative Analysis of Transcriptome-Wide Association Study and mRNA Expression Profiles Identified Candidate Genes and Pathways Associated With Acute Myocardial Infarction.

Frontiers In Genetics
Chen, Guanzhong G; Liu, Liwei L; Li, Huanqiang H; Lun, Zhubin Z; Mai, Ziling Z; Lai, Wenguang W; Chen, Enzhao E; Zhou, Chunyun C; Yu, Sijia S; Yang, Junqing J; Chen, Shiqun S; Chen, Jiyan J; Liu, Yong Y
Publication Date: 2021

Variant appearance in text: rs11591147
PubMed Link: 33603775
Variant Present in the following documents:
  • Main text
  • fgene-12-616492.pdf
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Regulatory genomic circuitry of human disease loci by integrative epigenomics.

Nature
Boix, Carles A CA; James, Benjamin T BT; Park, Yongjin P YP; Meuleman, Wouter W; Kellis, Manolis M
Publication Date: 2021-02

Variant appearance in text: rs11591147
PubMed Link: 33536621
Variant Present in the following documents:
  • Main text
  • 41586_2020_Article_3145.pdf
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