Variant ID: 1-55529215-C-A

NM_174936.3(PCSK9):c.2037C>A;(p.C679*)

This variant was identified in 101 publications

View GRCh38 version.




Publications:


Meta-analysis of sub-Saharan African studies provides insights into genetic architecture of lipid traits.

Nature Communications
Choudhury, Ananyo A; Brandenburg, Jean-Tristan JT; Chikowore, Tinashe T; Sengupta, Dhriti D; Boua, Palwende Romuald PR; Crowther, Nigel J NJ; Agongo, Godfred G; Asiki, Gershim G; Gómez-Olivé, F Xavier FX; Kisiangani, Isaac I; Maimela, Eric E; Masemola-Maphutha, Matshane M; Micklesfield, Lisa K LK; Nonterah, Engelbert A EA; Norris, Shane A SA; Sorgho, Hermann H; Tinto, Halidou H; Tollman, Stephen S; Graham, Sarah E SE; Willer, Cristen J CJ; , ; , ; Hazelhurst, Scott S; Ramsay, Michèle M
Publication Date: 2022-05-11

Variant appearance in text: PCSK9: Cys679Ter; rs28362286
PubMed Link: 35546142
Variant Present in the following documents:
  • 41467_2022_Article_30098.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: C679X
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: C679X
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.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: Cys679X
PubMed Link: 35056760
Variant Present in the following documents:
  • Main text
  • molecules-27-00434.pdf
View BVdb publication page



Gene Therapy Targeting PCSK9.

Metabolites
Katzmann, Julius L JL; Cupido, Arjen J AJ; Laufs, Ulrich U
Publication Date: 2022-01-12

Variant appearance in text: PCSK9: C679X
PubMed Link: 35050192
Variant Present in the following documents:
  • metabolites-12-00070.pdf
View BVdb publication page



Engineered virus-like particles for efficient in vivo delivery of therapeutic proteins.

Cell
Banskota, Samagya S; Raguram, Aditya A; Suh, Susie S; Du, Samuel W SW; Davis, Jessie R JR; Choi, Elliot H EH; Wang, Xiao X; Nielsen, Sarah C SC; Newby, Gregory A GA; Randolph, Peyton B PB; Osborn, Mark J MJ; Musunuru, Kiran K; Palczewski, Krzysztof K; Liu, David R DR
Publication Date: 2022-01-07

Variant appearance in text: PCSK9: C679X
PubMed Link: 35021064
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Moving toward genome-editing therapies for cardiovascular diseases.

The Journal Of Clinical Investigation
Musunuru, Kiran K
Publication Date: 2022-01-04

Variant appearance in text: PCSK9: C679X
PubMed Link: 34981785
Variant Present in the following documents:
  • jci-132-148555.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: C679X
PubMed Link: 34782856
Variant Present in the following documents:
  • Main text
  • fcvm-08-764038.pdf
View BVdb publication page



Engineered pegRNAs improve prime editing efficiency.

Nature Biotechnology
Nelson, James W JW; Randolph, Peyton B PB; Shen, Simon P SP; Everette, Kelcee A KA; Chen, Peter J PJ; Anzalone, Andrew V AV; An, Meirui M; Newby, Gregory A GA; Chen, Jonathan C JC; Hsu, Alvin A; Liu, David R DR
Publication Date: 2021-10-04

Variant appearance in text: PCSK9: Cys679X; rs28362286
PubMed Link: 34608327
Variant Present in the following documents:
  • NIHMS1729173-supplement-Sup_tab.xlsx
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: C679X
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.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: C679X
PubMed Link: 34462692
Variant Present in the following documents:
  • cureus-0013-00000016664.pdf
View BVdb publication page



Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the Netherlands.

Genes
Zuurbier, Linda C LC; Defesche, Joep C JC; Wiegman, Albert A
Publication Date: 2021-07-29

Variant appearance in text: PCSK9: C679X
PubMed Link: 34440342
Variant Present in the following documents:
  • genes-12-01168.pdf
View BVdb publication page



Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.

Journal Of Human Genetics
Sun, Quan Q; Graff, Misa M; Rowland, Bryce B; Wen, Jia J; Huang, Le L; Miller-Fleming, Tyne W TW; Haessler, Jeffrey J; Preuss, Michael H MH; Chai, Jin-Fang JF; Lee, Moa P MP; Avery, Christy L CL; Cheng, Ching-Yu CY; Franceschini, Nora N; Sim, Xueling X; Cox, Nancy J NJ; Kooperberg, Charles C; North, Kari E KE; Li, Yun Y; Raffield, Laura M LM
Publication Date: 2021-08-11

Variant appearance in text: PCSK9: Cys679Ter; rs28362286
PubMed Link: 34376796
Variant Present in the following documents:
  • Main text
  • nihms-1728207.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: C679X; rs28362286
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



Proprotein Convertase Subtilisin Kexin Type 9 Inhibitors Reduce Platelet Activation Modulating ox-LDL Pathways.

International Journal Of Molecular Sciences
Cammisotto, Vittoria V; Baratta, Francesco F; Castellani, Valentina V; Bartimoccia, Simona S; Nocella, Cristina C; D'Erasmo, Laura L; Cocomello, Nicholas N; Barale, Cristina C; Scicali, Roberto R; Di Pino, Antonino A; Piro, Salvatore S; Del Ben, Maria M; Arca, Marcello M; Russo, Isabella I; Purrello, Francesco F; Carnevale, Roberto R; Violi, Francesco F; Pastori, Daniele D; Pignatelli, Pasquale P
Publication Date: 2021-07-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 34281247
Variant Present in the following documents:
  • ijms-22-07193.pdf
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: C679X
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 2037C>A; rs28362286
PubMed Link: 33866776
Variant Present in the following documents:
  • Main text
  • enm-2021-964.pdf
View BVdb publication page



Development of a novel, fully human, anti-PCSK9 antibody with potent hypolipidemic activity by utilizing phage display-based strategy.

Ebiomedicine
Xu, Menglong M; Lei, Gaoxin G; Chen, Manman M; Wang, Ke K; Lv, Wenxiu W; Zhang, Panpan P; Hu, Tuo T; Gao, Jie J; Lu, Chenchen C; Mei, Ying Y; Xu, Zhipan Z; Bai, Zhengli Z; Hu, Huajing H; Jiang, Yiwei Y; Tan, Shuhua S
Publication Date: 2021-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 33647772
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Non-communicable diseases pandemic and precision medicine: Is Africa ready?

Ebiomedicine
Chikowore, Tinashe T; Kamiza, Abram Bunya AB; Oduaran, Ovokeraye H OH; Machipisa, Tafadzwa T; Fatumo, Segun S
Publication Date: 2021-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 33639396
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Patterns and tempo of PCSK9 pseudogenizations suggest an ancient divergence in mammalian cholesterol homeostasis mechanisms.

Genetica
van Asch, Barbara B; Teixeira da Costa, Luís Filipe LF
Publication Date: 2021-02

Variant appearance in text: PCSK9: C679X
PubMed Link: 33515402
Variant Present in the following documents:
  • Main text
  • 10709_2021_Article_113.pdf
View BVdb publication page



Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Martin, George M GM; Hisama, Fuki M FM; Oshima, Junko J
Publication Date: 2021-01-18

Variant appearance in text: PCSK9: Cys679*
PubMed Link: 33295962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Low Levels of Low-Density Lipoprotein Cholesterol and Endothelial Function in Subjects without Lipid-Lowering Therapy.

Journal Of Clinical Medicine
Takaeko, Yuji Y; Kajikawa, Masato M; Kishimoto, Shinji S; Yamaji, Takayuki T; Harada, Takahiro T; Han, Yiming Y; Kihara, Yasuki Y; Hida, Eisuke E; Chayama, Kazuaki K; Goto, Chikara C; Aibara, Yoshiki Y; Yusoff, Farina Mohamad FM; Maruhashi, Tatsuya T; Nakashima, Ayumu A; Higashi, Yukihito Y
Publication Date: 2020-11-24

Variant appearance in text: PCSK9: C679X
PubMed Link: 33255270
Variant Present in the following documents:
  • jcm-09-03796.pdf
View BVdb publication page



Lipoprotein(a) and PCSK9 inhibition: clinical evidence.

European Heart Journal Supplements : Journal Of The European Society Of Cardiology
Ruscica, Massimiliano M; Greco, Maria Francesca MF; Ferri, Nicola N; Corsini, Alberto A
Publication Date: 2020-11

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 33239979
Variant Present in the following documents:
  • Main text
  • suaa135.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: C679X
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
  • fgene-11-01020.pdf
View BVdb publication page



microRNA-483 ameliorates hypercholesterolemia by inhibiting PCSK9 production.

Jci Insight
Dong, Jianjie J; He, Ming M; Li, Jie J; Pessentheiner, Ariane A; Wang, Chen C; Zhang, Jin J; Sun, Yameng Y; Wang, Wei-Ting WT; Zhang, Yuqing Y; Liu, Junhui J; Wang, Shen-Chih SC; Huang, Po-Hsun PH; Gordts, Philip Lsm PL; Yuan, Zu-Yi ZY; Tsimikas, Sotirios S; Shyy, John Yj JY
Publication Date: 2020-12-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 33119548
Variant Present in the following documents:
  • Main text
  • jciinsight-5-143812.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: C679X
PubMed Link: 33062601
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique roles of rare variants in the genetics of complex diseases in humans.

Journal Of Human Genetics
Momozawa, Yukihide Y; Mizukami, Keijiro K
Publication Date: 2021-01

Variant appearance in text: PCSK9: Cys679Ter
PubMed Link: 32948841
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Nature Genetics
Li, Xihao X; Li, Zilin Z; Zhou, Hufeng H; Gaynor, Sheila M SM; Liu, Yaowu Y; Chen, Han H; Sun, Ryan R; Dey, Rounak R; Arnett, Donna K DK; Aslibekyan, Stella S; Ballantyne, Christie M CM; Bielak, Lawrence F LF; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Broome, Jai G JG; Conomos, Matthew P MP; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Freedman, Barry I BI; Guo, Xiuqing X; Hindy, George G; Irvin, Marguerite R MR; Kardia, Sharon L R SLR; Kathiresan, Sekar S; Khan, Alyna T AT; Kooperberg, Charles L CL; Laurie, Cathy C CC; Liu, X Shirley XS; Mahaney, Michael C MC; Manichaikul, Ani W AW; Martin, Lisa W LW; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Montasser, May E ME; Moore, Jill E JE; Morrison, Alanna C AC; O'Connell, Jeffrey R JR; Palmer, Nicholette D ND; Pampana, Akhil A; Peralta, Juan M JM; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Smith, Jennifer A JA; Tiwari, Hemant K HK; Tsai, Michael Y MY; Vasan, Ramachandran S RS; Wang, Fei Fei FF; Weeks, Daniel E DE; Weng, Zhiping Z; Wilson, James G JG; Yanek, Lisa R LR; , ; , ; Neale, Benjamin M BM; Sunyaev, Shamil R SR; Abecasis, Gonçalo R GR; Rotter, Jerome I JI; Willer, Cristen J CJ; Peloso, Gina M GM; Natarajan, Pradeep P; Lin, Xihong X
Publication Date: 2020-09

Variant appearance in text: rs28362286
PubMed Link: 32839606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein(a) Lowering-From Lipoprotein Apheresis to Antisense Oligonucleotide Approach.

Journal Of Clinical Medicine
Greco, Maria Francesca MF; Sirtori, Cesare R CR; Corsini, Alberto A; Ezhov, Marat M; Sampietro, Tiziana T; Ruscica, Massimiliano M
Publication Date: 2020-07-03

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 32635396
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
O'Connell, Emma M EM; Lohoff, Falk W FW
Publication Date: 2020

Variant appearance in text: PCSK9: C679X
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations.

Circulation Research
Fernández-Rhodes, Lindsay L; Young, Kristin L KL; Lilly, Adam G AG; Raffield, Laura M LM; Highland, Heather M HM; Wojcik, Genevieve L GL; Agler, Cary C; Love, Shelly-Ann M SM; Okello, Samson S; Petty, Lauren E LE; Graff, Mariaelisa M; Below, Jennifer E JE; Divaris, Kimon K; North, Kari E KE
Publication Date: 2020-06-05

Variant appearance in text: PCSK9: Cys679Ter; rs28362286
PubMed Link: 32496918
Variant Present in the following documents:
  • Main text
View BVdb publication page



Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Hu, Yao Y; Graff, Mariaelisa M; Haessler, Jeffrey J; Buyske, Steven S; Bien, Stephanie A SA; Tao, Ran R; Highland, Heather M HM; Nishimura, Katherine K KK; Zubair, Niha N; Lu, Yingchang Y; Verbanck, Marie M; Hilliard, Austin T AT; Klarin, Derek D; Damrauer, Scott M SM; Ho, Yuk-Lam YL; , ; Wilson, Peter W F PWF; Chang, Kyong-Mi KM; Tsao, Philip S PS; Cho, Kelly K; O'Donnell, Christopher J CJ; Assimes, Themistocles L TL; Petty, Lauren E LE; Below, Jennifer E JE; Dikilitas, Ozan O; Schaid, Daniel J DJ; Kosel, Matthew L ML; Kullo, Iftikhar J IJ; Rasmussen-Torvik, Laura J LJ; Jarvik, Gail P GP; Feng, Qiping Q; Wei, Wei-Qi WQ; Larson, Eric B EB; Mentch, Frank D FD; Almoguera, Berta B; Sleiman, Patrick M PM; Raffield, Laura M LM; Correa, Adolfo A; Martin, Lisa W LW; Daviglus, Martha M; Matise, Tara C TC; Ambite, Jose Luis JL; Carlson, Christopher S CS; Do, Ron R; Loos, Ruth J F RJF; Wilkens, Lynne R LR; Le Marchand, Loic L; Haiman, Chris C; Stram, Daniel O DO; Hindorff, Lucia A LA; North, Kari E KE; Kooperberg, Charles C; Cheng, Iona I; Peters, Ulrike U
Publication Date: 2020-03

Variant appearance in text: rs28362286
PubMed Link: 32226016
Variant Present in the following documents:
  • Main text
View BVdb publication page



EDEM3 Modulates Plasma Triglyceride Level through Its Regulation of LRP1 Expression.

Iscience
Xu, Yu-Xin YX; Peloso, Gina M GM; Nagai, Taylor H TH; Mizoguchi, Taiji T; Deik, Amy A; Bullock, Kevin K; Lin, Honghuang H; Musunuru, Kiran K; Yang, Qiong Q; Vasan, Ramachandran S RS; Gerszten, Robert E RE; Clish, Clary B CB; Rader, Daniel D; Kathiresan, Sekar S
Publication Date: 2020-04-24

Variant appearance in text: rs28362286
PubMed Link: 32213464
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Internal Medicine (Tokyo, Japan)
Tada, Hayato H; Okada, Hirofumi H; Nomura, Akihiro A; Nohara, Atsushi A; Takamura, Masayuki M; Kawashiri, Masa-Aki MA
Publication Date: 2020

Variant appearance in text: PCSK9: Cys679Ter
PubMed Link: 32173689
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 loss-of-function variants and Lp(a) phenotypes among black US adults.

Journal Of Lipid Research
Mefford, Matthew T MT; Marcovina, Santica M SM; Bittner, Vera V; Cushman, Mary M; Brown, Todd M TM; Farkouh, Michael E ME; Tsimikas, Sotirios S; Monda, Keri L KL; López, J Antonio G JAG; Muntner, Paul P; Rosenson, Robert S RS
Publication Date: 2019-11

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 31511398
Variant Present in the following documents:
  • Main text
View BVdb publication page



C679X loss-of-function PCSK9 variant is associated with lower fasting glucose in black South African adolescents: Birth to Twenty Plus Cohort.

Journal Of Clinical & Translational Endocrinology
Chikowore, Tinashe T; Sahibdeen, Venesa V; Hendry, Liesl M LM; Norris, Shane A SA; Goedecke, Julia H JH; Micklesfield, Lisa K LK; Lombard, Zané Z
Publication Date: 2019-06

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 30899674
Variant Present in the following documents:
  • Main text
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs28362286
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 loss-of-function variants and risk of infection and sepsis in the Reasons for Geographic and Racial Differences in Stroke (REGARDS) cohort.

Plos One
Mitchell, Kellie A KA; Moore, Justin Xavier JX; Rosenson, Robert S RS; Irvin, Ryan R; Guirgis, Faheem W FW; Shapiro, Nathan N; Safford, Monika M; Wang, Henry E HE
Publication Date: 2019

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 30726226
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Determinants of Dyslipidemia in African-Based Populations: A Systematic Review.

Omics : A Journal Of Integrative Biology
Noubiap, Jean Jacques JJ; Mato, Edith Pascale M EPM; Guewo-Fokeng, Magellan M; Kaze, Arnaud D AD; Boulenouar, Houssam H; Wonkam, Ambroise A
Publication Date: 2018-12

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 30571611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Bmc Medical Genetics
Modi, Bhavi P BP; Parikh, Hardik I HI; Teves, Maria E ME; Kulkarni, Rewa R; Liyu, Jiang J; Romero, Roberto R; York, Timothy P TP; Strauss, Jerome F JF
Publication Date: 2018-10-05

Variant appearance in text: rs28362286
PubMed Link: 30290772
Variant Present in the following documents:
  • Main text
View BVdb publication page



A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9.

Journal Of Visualized Experiments : Jove
Chorba, John S JS; Galvan, Adri M AM; Shokat, Kevan M KM
Publication Date: 2018-08-28

Variant appearance in text: PCSK9: C679X
PubMed Link: 30222160
Variant Present in the following documents:
  • Main text
View BVdb publication page



Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.

Plos One
Arama, Charles C; Diarra, Issa I; Kouriba, Bourèma B; Sirois, Francine F; Fedoryak, Olesya O; Thera, Mahamadou A MA; Coulibaly, Drissa D; Lyke, Kirsten E KE; Plowe, Christopher V CV; Chrétien, Michel M; Doumbo, Ogobara K OK; Mbikay, Majambu M
Publication Date: 2018

Variant appearance in text: PCSK9: 2037C>A; C679X; rs28362286
PubMed Link: 29447211
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C679X
PubMed Link: 29259136
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C679X
PubMed Link: 29175268
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants, Low-Density Lipoprotein Cholesterol, and Neurocognitive Impairment: Reasons for Geographic and Racial Differences in Stroke Study (REGARDS).

Circulation
Mefford, Matthew T MT; Rosenson, Robert S RS; Cushman, Mary M; Farkouh, Michael E ME; McClure, Leslie A LA; Wadley, Virginia G VG; Irvin, Marguerite R MR; Bittner, Vera V; Safford, Monika M MM; Somaratne, Ransi R; Monda, Keri L KL; Muntner, Paul P; Levitan, Emily B EB
Publication Date: 2018-03-20

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 29146683
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Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European Heart Journal
Hopewell, Jemma C JC; Malik, Rainer R; Valdés-Márquez, Elsa E; Worrall, Bradford B BB; Collins, Rory R; ,
Publication Date: 2018-02-01

Variant appearance in text: PCSK9: C679X
PubMed Link: 29020353
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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: C679X
PubMed Link: 28971102
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PCSK9 Loss-of-Function Variants, Low-Density Lipoprotein Cholesterol, and Risk of Coronary Heart Disease and Stroke: Data From 9 Studies of Blacks and Whites.

Circulation. Cardiovascular Genetics
Kent, Shia T ST; Rosenson, Robert S RS; Avery, Christy L CL; Chen, Yii-Der I YI; Correa, Adolfo A; Cummings, Steven R SR; Cupples, L Adrienne LA; Cushman, Mary M; Evans, Daniel S DS; Gudnason, Vilmundur V; Harris, Tamara B TB; Howard, George G; Irvin, Marguerite R MR; Judd, Suzanne E SE; Jukema, J Wouter JW; Lange, Leslie L; Levitan, Emily B EB; Li, Xiaohui X; Liu, Yongmei Y; Post, Wendy S WS; Postmus, Iris I; Psaty, Bruce M BM; Rotter, Jerome I JI; Safford, Monika M MM; Sitlani, Colleen M CM; Smith, Albert V AV; Stewart, James D JD; Trompet, Stella S; Sun, Fangui F; Vasan, Ramachandran S RS; Woolley, J Michael JM; Whitsel, Eric A EA; Wiggins, Kerri L KL; Wilson, James G JG; Muntner, Paul P
Publication Date: 2017-08

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 28768753
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Inhibition of PCSK9 does not improve lipopolysaccharide-induced mortality in mice.

Journal Of Lipid Research
Berger, Jean-Mathieu JM; Loza Valdes, Angel A; Gromada, Jesper J; Anderson, Norma N; Horton, Jay D JD
Publication Date: 2017-08

Variant appearance in text: PCSK9: C679X
PubMed Link: 28600283
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Replication and fine-mapping of genetic predictors of lipid traits in African-Americans.

Journal Of Human Genetics
Feng, QiPing Q; Wei, Wei-Qi WQ; Levinson, Rebecca T RT; Mosley, Jonathan D JD; Stein, C Michael CM
Publication Date: 2017-10

Variant appearance in text: rs28362286
PubMed Link: 28539666
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A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases
Budu-Aggrey, Ashley A; Bowes, John J; Stuart, Philip E PE; Zawistowski, Matthew M; Tsoi, Lam C LC; Nair, Rajan R; Jadon, Deepak Rohit DR; McHugh, Neil N; Korendowych, Eleanor E; Elder, James T JT; Barton, Anne A; Raychaudhuri, Soumya S
Publication Date: 2017-07

Variant appearance in text: PCSK9: C679X
PubMed Link: 28501801
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PCSK9 as a therapeutic target for cardiovascular disease.

Experimental And Therapeutic Medicine
Zhang, Pei-Ying PY
Publication Date: 2017-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 28450903
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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: PCSK9: C679X
PubMed Link: 28439730
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Lowering serum lipids via PCSK9-targeting drugs: current advances and future perspectives.

Acta Pharmacologica Sinica
He, Ni-Ya NY; Li, Qing Q; Wu, Chun-Yan CY; Ren, Zhong Z; Gao, Ya Y; Pan, Li-Hong LH; Wang, Mei-Mei MM; Wen, Hong-Yan HY; Jiang, Zhi-Sheng ZS; Tang, Zhi-Han ZH; Liu, Lu-Shan LS
Publication Date: 2017-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 28112180
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Management of Hypercholesterolemia, Appropriateness of Therapeutic Approaches and New Drugs in Patients with High Cardiovascular Risk.

High Blood Pressure & Cardiovascular Prevention : The Official Journal Of The Italian Society Of Hypertension
Agabiti Rosei, Enrico E; Salvetti, Massimo M
Publication Date: 2016-09

Variant appearance in text: PCSK9: C679X
PubMed Link: 27567901
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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: PCSK9: C679X
PubMed Link: 27496869
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Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
Peloso, Gina M GM; Lange, Leslie A LA; Varga, Tibor V TV; Nickerson, Deborah A DA; Smith, Joshua D JD; Griswold, Michael E ME; Musani, Solomon S; Polfus, Linda M LM; Mei, Hao H; Gabriel, Stacey S; Quarells, Rakale Collins RC; Altshuler, David D; Boerwinkle, Eric E; Daly, Mark J MJ; Neale, Benjamin B; Correa, Adolfo A; Reiner, Alex P AP; Wilson, James G JG; Kathiresan, Sekar S
Publication Date: 2016-08

Variant appearance in text: PCSK9: C679X
PubMed Link: 27422940
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Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Single Domain Antibodies Are Potent Inhibitors of Low Density Lipoprotein Receptor Degradation.

The Journal Of Biological Chemistry
Weider, Elodie E; Susan-Resiga, Delia D; Essalmani, Rachid R; Hamelin, Josée J; Asselin, Marie-Claude MC; Nimesh, Surendra S; Ashraf, Yahya Y; Wycoff, Keith L KL; Zhang, Jianbing J; Prat, Annik A; Seidah, Nabil G NG
Publication Date: 2016-08-05

Variant appearance in text: PCSK9: C679X
PubMed Link: 27284008
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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: C679X
PubMed Link: 27189168
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The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Feng, Q Q; Wei, W Q WQ; Chung, C P CP; Levinson, R T RT; Bastarache, L L; Denny, J C JC; Stein, C M CM
Publication Date: 2017-03

Variant appearance in text: PCSK9: Cys679Ter; rs28362286
PubMed Link: 26902539
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What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology
Jeff, Janina M JM; Peloso, Gina M GM; Do, Ron R
Publication Date: 2016-04

Variant appearance in text: PCSK9: C679X
PubMed Link: 26844526
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Hypercholesterolemia, low density lipoprotein receptor and proprotein convertase subtilisin/kexin-type 9.

Journal Of Biomedical Research
Gu, Hong-Mei HM; Zhang, Da-Wei DW
Publication Date: 2015-09

Variant appearance in text: PCSK9: C679X
PubMed Link: 26445568
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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
Schmidt, Ellen M EM; Willer, Cristen J CJ
Publication Date: 2015-08

Variant appearance in text: PCSK9: 2037C>A; rs28362286
PubMed Link: 26241468
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PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
Tran, Ngan T NT; Aslibekyan, Stella S; Tiwari, Hemant K HK; Zhi, Degui D; Sung, Yun Ju YJ; Hunt, Steven C SC; Rao, D C DC; Broeckel, Ulrich U; Judd, Suzanne E SE; Muntner, Paul P; Kent, Shia T ST; Arnett, Donna K DK; Irvin, Marguerite R MR
Publication Date: 2015

Variant appearance in text: PCSK9: 2037C>A; C679X; rs28362286
PubMed Link: 25904937
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A century of cholesterol and coronaries: from plaques to genes to statins.

Cell
Goldstein, Joseph L JL; Brown, Michael S MS
Publication Date: 2015-03-26

Variant appearance in text: PCSK9: C679X
PubMed Link: 25815993
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Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
Tsai, Ching-Wei CW; North, Kari E KE; Tin, Adrienne A; Haack, Karin K; Franceschini, Nora N; Saroja Voruganti, V V; Laston, Sandy S; Zhang, Ying Y; Best, Lyle G LG; MacCluer, Jean W JW; Beaty, Terri H TH; Navas-Acien, Ana A; Kao, W H Linda WH; Howard, Barbara V BV
Publication Date: 2015-02

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 25412415
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Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Frontiers In Genetics
Sleiman, Patrick P; Bradfield, Jonathan J; Mentch, Frank F; Almoguera, Berta B; Connolly, John J; Hakonarson, Hakon H
Publication Date: 2014

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 24808909
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Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
Peloso, Gina M GM; Auer, Paul L PL; Bis, Joshua C JC; Voorman, Arend A; Morrison, Alanna C AC; Stitziel, Nathan O NO; Brody, Jennifer A JA; Khetarpal, Sumeet A SA; Crosby, Jacy R JR; Fornage, Myriam M; Isaacs, Aaron A; Jakobsdottir, Johanna J; Feitosa, Mary F MF; Davies, Gail G; Huffman, Jennifer E JE; Manichaikul, Ani A; Davis, Brian B; Lohman, Kurt K; Joon, Aron Y AY; Smith, Albert V AV; Grove, Megan L ML; Zanoni, Paolo P; Redon, Valeska V; Demissie, Serkalem S; Lawson, Kim K; Peters, Ulrike U; Carlson, Christopher C; Jackson, Rebecca D RD; Ryckman, Kelli K KK; Mackey, Rachel H RH; Robinson, Jennifer G JG; Siscovick, David S DS; Schreiner, Pamela J PJ; Mychaleckyj, Josyf C JC; Pankow, James S JS; Hofman, Albert A; Uitterlinden, Andre G AG; Harris, Tamara B TB; Taylor, Kent D KD; Stafford, Jeanette M JM; Reynolds, Lindsay M LM; Marioni, Riccardo E RE; Dehghan, Abbas A; Franco, Oscar H OH; Patel, Aniruddh P AP; Lu, Yingchang Y; Hindy, George G; Gottesman, Omri O; Bottinger, Erwin P EP; Melander, Olle O; Orho-Melander, Marju M; Loos, Ruth J F RJ; Duga, Stefano S; Merlini, Piera Angelica PA; Farrall, Martin M; Goel, Anuj A; Asselta, Rosanna R; Girelli, Domenico D; Martinelli, Nicola N; Shah, Svati H SH; Kraus, William E WE; Li, Mingyao M; Rader, Daniel J DJ; Reilly, Muredach P MP; McPherson, Ruth R; Watkins, Hugh H; Ardissino, Diego D; , ; Zhang, Qunyuan Q; Wang, Judy J; Tsai, Michael Y MY; Taylor, Herman A HA; Correa, Adolfo A; Griswold, Michael E ME; Lange, Leslie A LA; Starr, John M JM; Rudan, Igor I; Eiriksdottir, Gudny G; Launer, Lenore J LJ; Ordovas, Jose M JM; Levy, Daniel D; Chen, Y-D Ida YD; Reiner, Alexander P AP; Hayward, Caroline C; Polasek, Ozren O; Deary, Ian J IJ; Borecki, Ingrid B IB; Liu, Yongmei Y; Gudnason, Vilmundur V; Wilson, James G JG; van Duijn, Cornelia M CM; Kooperberg, Charles C; Rich, Stephen S SS; Psaty, Bruce M BM; Rotter, Jerome I JI; O'Donnell, Christopher J CJ; Rice, Kenneth K; Boerwinkle, Eric E; Kathiresan, Sekar S; Cupples, L Adrienne LA
Publication Date: 2014-02-06

Variant appearance in text: PCSK9: 2037C>A; rs28362286
PubMed Link: 24507774
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Cholesterol: the good, the bad, and the ugly - therapeutic targets for the treatment of dyslipidemia.

Medical Principles And Practice : International Journal Of The Kuwait University, Health Science Centre
Elshourbagy, Nabil A NA; Meyers, Harold V HV; Abdel-Meguid, Sherin S SS
Publication Date: 2014

Variant appearance in text: PCSK9: C679X
PubMed Link: 24334831
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
Ferri, Nicola N
Publication Date: 2012

Variant appearance in text: PCSK9: C679X
PubMed Link: 24278757
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

The Application Of Clinical Genetics
De Castro-Orós, Isabel I; Pocoví, Miguel M; Civeira, Fernando F
Publication Date: 2010

Variant appearance in text: PCSK9: C679X
PubMed Link: 23776352
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Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
Coram, Marc A MA; Duan, Qing Q; Hoffmann, Thomas J TJ; Thornton, Timothy T; Knowles, Joshua W JW; Johnson, Nicholas A NA; Ochs-Balcom, Heather M HM; Donlon, Timothy A TA; Martin, Lisa W LW; Eaton, Charles B CB; Robinson, Jennifer G JG; Risch, Neil J NJ; Zhu, Xiaofeng X; Kooperberg, Charles C; Li, Yun Y; Reiner, Alex P AP; Tang, Hua H
Publication Date: 2013-06-06

Variant appearance in text: PCSK9: Cys679Ter; rs28362286
PubMed Link: 23726366
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Differential effects of PCSK9 loss of function variants on serum lipid and PCSK9 levels in Caucasian and African Canadian populations.

Lipids In Health And Disease
Mayne, Janice J; Ooi, Teik Chye TC; Raymond, Angela A; Cousins, Marion M; Bernier, Lise L; Dewpura, Thilina T; Sirois, Francine F; Mbikay, Majambu M; Davignon, Jean J; Chrétien, Michel M
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: C679X
PubMed Link: 23663650
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Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: PCSK9: C679X; rs28362286
PubMed Link: 23555291
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Proprotein convertase subtilisin/kexin type 9 deficiency reduces melanoma metastasis in liver.

Neoplasia (New York, N.Y.)
Sun, Xiaowei X; Essalmani, Rachid R; Day, Robert R; Khatib, Abdel M AM; Seidah, Nabil G NG; Prat, Annik A
Publication Date: 2012-12

Variant appearance in text: PCSK9: C679X
PubMed Link: 23308045
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The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

The Journal Of Biological Chemistry
Saavedra, Yascara Grisel Luna YG; Day, Robert R; Seidah, Nabil G NG
Publication Date: 2012-12-21

Variant appearance in text: PCSK9: C679X
PubMed Link: 23105118
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Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.

Plos One
Seidah, Nabil G NG; Poirier, Steve S; Denis, Maxime M; Parker, Rex R; Miao, Bowman B; Mapelli, Claudio C; Prat, Annik A; Wassef, Hanny H; Davignon, Jean J; Hajjar, Katherine A KA; Mayer, Gaétan G
Publication Date: 2012

Variant appearance in text: PCSK9: C679X
PubMed Link: 22848640
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Peroxisome Proliferator-activated receptor γ activation by ligands and dephosphorylation induces proprotein convertase subtilisin kexin type 9 and low density lipoprotein receptor expression.

The Journal Of Biological Chemistry
Duan, Yajun Y; Chen, Yuanli Y; Hu, Wenquan W; Li, Xiaoju X; Yang, Xiaoxiao X; Zhou, Xin X; Yin, Zhinan Z; Kong, Deling D; Yao, Zhi Z; Hajjar, David P DP; Liu, Lin L; Liu, Qiang Q; Han, Jihong J
Publication Date: 2012-07-06

Variant appearance in text: PCSK9: C679X
PubMed Link: 22593575
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Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.

Embo Reports
Lo Surdo, Paola P; Bottomley, Matthew J MJ; Calzetta, Alessandra A; Settembre, Ethan C EC; Cirillo, Agostino A; Pandit, Shilpa S; Ni, Yan G YG; Hubbard, Brian B; Sitlani, Ayesha A; Carfí, Andrea A
Publication Date: 2011-12-01

Variant appearance in text: PCSK9: C679X
PubMed Link: 22081141
Variant Present in the following documents:
  • Main text
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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research
Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC
Publication Date: 2011-11

Variant appearance in text: PCSK9: 2037C>A; C679X; rs28362286
PubMed Link: 21862702
Variant Present in the following documents:
  • Main text
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Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.

The Pharmacogenomics Journal
Song, K K; Nelson, M R MR; Aponte, J J; Manas, E S ES; Bacanu, S-A SA; Yuan, X X; Kong, X X; Cardon, L L; Mooser, V E VE; Whittaker, J C JC; Waterworth, D M DM
Publication Date: 2012-10

Variant appearance in text: PCSK9: C679X
PubMed Link: 21606947
Variant Present in the following documents:
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Testing for an unusual distribution of rare variants.

Plos Genetics
Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ
Publication Date: 2011-03

Variant appearance in text: PCSK9: C679X
PubMed Link: 21408211
Variant Present in the following documents:
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Effects of currently prescribed LDL-C-lowering drugs on PCSK9 and implications for the next generation of LDL-C-lowering agents.

Lipids In Health And Disease
Konrad, Robert J RJ; Troutt, Jason S JS; Cao, Guoqing G
Publication Date: 2011-02-28

Variant appearance in text: PCSK9: C679X
PubMed Link: 21352602
Variant Present in the following documents:
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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP
Publication Date: 2010-10-15

Variant appearance in text: PCSK9: Cys679Ter
PubMed Link: 20876667
Variant Present in the following documents:
  • Main text
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