Variant ID: 1-55512222-C-G

NM_174936.3(PCSK9):c.426C>G;(p.Tyr142*)

This variant was identified in 66 publications




Publications:


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

Journal Of Clinical Medicine
MF Greco, CR Sirtori, A Corsini, M Ezhov, T Sampietro, M Ruscica
Publication Date: 2020-07-03

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 32635396
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Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: PCSK9: Y142X
PMID: 32595449
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Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Y Hu, M Graff, J Haessler, S Buyske, SA Bien, R Tao, HM Highland, KK Nishimura, N Zubair, Y Lu, M Verbanck, AT Hilliard, D Klarin, SM Damrauer, YL Ho, , PWF Wilson, KM Chang, PS Tsao, K Cho, CJ O'Donnell, TL Assimes, LE Petty, JE Below, O Dikilitas, DJ Schaid, ML Kosel, IJ Kullo, LJ Rasmussen-Torvik, GP Jarvik, Q Feng, WQ Wei, EB Larson, FD Mentch, B Almoguera, PM Sleiman, LM Raffield, A Correa, LW Martin, M Daviglus, TC Matise, JL Ambite, CS Carlson, R Do, RJF Loos, LR Wilkens, L Le Marchand, C Haiman, DO Stram, LA Hindorff, KE North, C Kooperberg, I Cheng, U Peters
Publication Date: 2020-03-30

Variant appearance in text: rs67608943
PMID: 32226016
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A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Internal Medicine (Tokyo, Japan)
H Tada, H Okada, A Nomura, A Nohara, M Takamura, MA Kawashiri
Publication Date: 2020

Variant appearance in text: PCSK9: Tyr142Ter
PMID: 32173689
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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association
TD Pottinger, MJ Puckelwartz, LL Pesce, A Robinson, S Kearns, JA Pacheco, LJ Rasmussen-Torvik, ME Smith, R Chisholm, EM McNally
Publication Date: 2020-02-04

Variant appearance in text: PCSK9: Tyr142Ter
PMID: 32009526
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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
T Chikowore, V Sahibdeen, LM Hendry, SA Norris, JH Goedecke, LK Micklesfield, Z Lombard
Publication Date: 2019-06

Variant appearance in text: PCSK9: Y142X
PMID: 30899674
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A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019

Variant appearance in text: rs67608943
PMID: 30774981
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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
KA Mitchell, JX Moore, RS Rosenson, R Irvin, FW Guirgis, N Shapiro, M Safford, HE Wang
Publication Date: 2019

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 30726226
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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology
RN Pitts, RH Eckel
Publication Date: 2014-12

Variant appearance in text: PCSK9: Y142X
PMID: 30310488
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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research
MD Shapiro, H Tavori, S Fazio
Publication Date: 2018-05-11

Variant appearance in text: PCSK9: Y142X
PMID: 29748367
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Malaria severity: Possible influence of the E670G PCSK9 polymorphism: A preliminary case-control study in Malian children.

Plos One
C Arama, I Diarra, B Kouriba, F Sirois, O Fedoryak, MA Thera, D Coulibaly, KE Lyke, CV Plowe, M Chrétien, OK Doumbo, M Mbikay
Publication Date: 2018

Variant appearance in text: PCSK9: 426C>G; Y142X
PMID: 29447211
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PCSK9 Variants, Low-Density Lipoprotein Cholesterol, and Neurocognitive Impairment: Reasons for Geographic and Racial Differences in Stroke Study (REGARDS).

Circulation
MT Mefford, RS Rosenson, M Cushman, ME Farkouh, LA McClure, VG Wadley, MR Irvin, V Bittner, MM Safford, R Somaratne, KL Monda, P Muntner, EB Levitan
Publication Date: 2018-03-20

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 29146683
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Differential effects of PCSK9 variants on risk of coronary disease and ischaemic stroke.

European Heart Journal
JC Hopewell, R Malik, E Valdés-Márquez, BB Worrall, R Collins,
Publication Date: 2018-02-01

Variant appearance in text: PCSK9: Y142X
PMID: 29020353
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The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.

Global Cardiology Science & Practice
NG Seidah
Publication Date: 2017-03-31

Variant appearance in text: PCSK9: Y142X
PMID: 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
ST Kent, RS Rosenson, CL Avery, YI Chen, A Correa, SR Cummings, LA Cupples, M Cushman, DS Evans, V Gudnason, TB Harris, G Howard, MR Irvin, SE Judd, JW Jukema, L Lange, EB Levitan, X Li, Y Liu, WS Post, I Postmus, BM Psaty, JI Rotter, MM Safford, CM Sitlani, AV Smith, JD Stewart, S Trompet, F Sun, RS Vasan, JM Woolley, EA Whitsel, KL Wiggins, JG Wilson, P Muntner
Publication Date: 2017-08

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 28768753
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Inhibition of PCSK9 does not improve lipopolysaccharide-induced mortality in mice.

Journal Of Lipid Research
JM Berger, A Loza Valdes, J Gromada, N Anderson, JD Horton
Publication Date: 2017-08

Variant appearance in text: PCSK9: Y142X
PMID: 28600283
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A rare coding allele in IFIH1 is protective for psoriatic arthritis.

Annals Of The Rheumatic Diseases
A Budu-Aggrey, J Bowes, PE Stuart, M Zawistowski, LC Tsoi, R Nair, DR Jadon, N McHugh, E Korendowych, JT Elder, A Barton, S Raychaudhuri
Publication Date: 2017-07

Variant appearance in text: PCSK9: Y142X
PMID: 28501801
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PCSK9 as a therapeutic target for cardiovascular disease.

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

Variant appearance in text: PCSK9: Y142X
PMID: 28450903
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Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic Research In Cardiology
S Glerup, R Schulz, U Laufs, KD Schlüter
Publication Date: 2017-05

Variant appearance in text: PCSK9: Y142X
PMID: 28439730
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Lowering serum lipids via PCSK9-targeting drugs: current advances and future perspectives.

Acta Pharmacologica Sinica
NY He, Q Li, CY Wu, Z Ren, Y Gao, LH Pan, MM Wang, HY Wen, ZS Jiang, ZH Tang, LS Liu
Publication Date: 2017-03

Variant appearance in text: PCSK9: Y142X
PMID: 28112180
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Human genetic insights into lipoproteins and risk of cardiometabolic disease.

Current Opinion In Lipidology
NO Stitziel
Publication Date: 2017-04

Variant appearance in text: PCSK9: Y142*
PMID: 28059951
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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
E Agabiti Rosei, M Salvetti
Publication Date: 2016-09

Variant appearance in text: N/A
PMID: 27567901
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Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular Research
GD Norata, H Tavori, A Pirillo, S Fazio, AL Catapano
Publication Date: 2016-10

Variant appearance in text: PCSK9: Y142X
PMID: 27496869
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Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular Genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
Publication Date: 2016-08

Variant appearance in text: PCSK9: Y142X
PMID: 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
E Weider, D Susan-Resiga, R Essalmani, J Hamelin, MC Asselin, S Nimesh, Y Ashraf, KL Wycoff, J Zhang, A Prat, NG Seidah
Publication Date: 2016-08-05

Variant appearance in text: N/A
PMID: 27284008
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The impact of genome-wide association studies on the pathophysiology and therapy of cardiovascular disease.

Embo Molecular Medicine
T Kessler, B Vilne, H Schunkert
Publication Date: 2016-07

Variant appearance in text: PCSK9: Y142X
PMID: 27189168
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The effect of genetic variation in PCSK9 on the LDL-cholesterol response to statin therapy.

The Pharmacogenomics Journal
Q Feng, WQ Wei, CP Chung, RT Levinson, L Bastarache, JC Denny, CM Stein
Publication Date: 2017-03

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 26902539
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What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Current Opinion In Lipidology
JM Jeff, GM Peloso, R Do
Publication Date: 2016-04

Variant appearance in text: PCSK9: Y142X
PMID: 26844526
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Hypercholesterolemia, low density lipoprotein receptor and proprotein convertase subtilisin/kexin-type 9.

Journal Of Biomedical Research
HM Gu, DW Zhang
Publication Date: 2015-09

Variant appearance in text: PCSK9: Y142X
PMID: 26445568
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Insights into blood lipids from rare variant discovery.

Current Opinion In Genetics & Development
EM Schmidt, CJ Willer
Publication Date: 2015-08

Variant appearance in text: PCSK9: 426C>G; rs67608943
PMID: 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
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: PCSK9: 426C>G; Y142X; rs67608943
PMID: 25904937
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A century of cholesterol and coronaries: from plaques to genes to statins.

Cell
JL Goldstein, MS Brown
Publication Date: 2015-03-26

Variant appearance in text: N/A
PMID: 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
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 25412415
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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
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
Publication Date: 2014-02-06

Variant appearance in text: PCSK9: 426C>G; rs67608943
PMID: 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
NA Elshourbagy, HV Meyers, SS Abdel-Meguid
Publication Date: 2014

Variant appearance in text: PCSK9: Y142X
PMID: 24334831
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Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Scientifica
N Ferri
Publication Date: 2012

Variant appearance in text: PCSK9: Y142X
PMID: 24278757
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.

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

Variant appearance in text: PCSK9: Y142X
PMID: 23776352
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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
J Mayne, TC Ooi, A Raymond, M Cousins, L Bernier, T Dewpura, F Sirois, M Mbikay, J Davignon, M Chrétien
Publication Date: 2013-05-10

Variant appearance in text: PCSK9: Y142X
PMID: 23663650
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Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.

Journal Of Clinical Lipidology
JC Cohen
Publication Date: 2013

Variant appearance in text: PCSK9: Y142X
PMID: 23642322
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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
Y Wu, LL Waite, AU Jackson, WH Sheu, S Buyske, D Absher, DK Arnett, E Boerwinkle, LL Bonnycastle, CL Carty, I Cheng, B Cochran, DC Croteau-Chonka, L Dumitrescu, CB Eaton, N Franceschini, X Guo, BE Henderson, LA Hindorff, E Kim, L Kinnunen, P Komulainen, WJ Lee, L Le Marchand, Y Lin, J Lindström, O Lingaas-Holmen, SL Mitchell, N Narisu, JG Robinson, F Schumacher, A Stančáková, J Sundvall, YJ Sung, AJ Swift, WC Wang, L Wilkens, T Wilsgaard, AM Young, LS Adair, CM Ballantyne, P Bůžková, A Chakravarti, FS Collins, D Duggan, AB Feranil, LT Ho, YJ Hung, SC Hunt, K Hveem, JM Juang, AY Kesäniemi, J Kuusisto, M Laakso, TA Lakka, IT Lee, MF Leppert, TC Matise, L Moilanen, I Njølstad, U Peters, T Quertermous, R Rauramaa, JI Rotter, J Saramies, J Tuomilehto, M Uusitupa, TD Wang, M Boehnke, CA Haiman, YD Chen, C Kooperberg, TL Assimes, DC Crawford, CA Hsiung, KE North, KL Mohlke
Publication Date: 2013-03

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 23555291
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Proprotein convertase subtilisin/kexin type 9 deficiency reduces melanoma metastasis in liver.

Neoplasia (New York, N.Y.)
X Sun, R Essalmani, R Day, AM Khatib, NG Seidah, A Prat
Publication Date: 2012-12

Variant appearance in text: N/A
PMID: 23308045
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Exome sequencing and complex disease: practical aspects of rare variant association studies.

Human Molecular Genetics
R Do, S Kathiresan, GR Abecasis
Publication Date: 2012-10-15

Variant appearance in text: N/A
PMID: 22983955
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Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.

Plos One
NG Seidah, S Poirier, M Denis, R Parker, B Miao, C Mapelli, A Prat, H Wassef, J Davignon, KA Hajjar, G Mayer
Publication Date: 2012

Variant appearance in text: PCSK9: Y142X
PMID: 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
Y Duan, Y Chen, W Hu, X Li, X Yang, X Zhou, Z Yin, D Kong, Z Yao, DP Hajjar, L Liu, Q Liu, J Han
Publication Date: 2012-07-06

Variant appearance in text: N/A
PMID: 22593575
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Mechanistic implications for LDL receptor degradation from the PCSK9/LDLR structure at neutral pH.

Embo Reports
P Lo Surdo, MJ Bottomley, A Calzetta, EC Settembre, A Cirillo, S Pandit, YG Ni, B Hubbard, A Sitlani, A Carfí
Publication Date: 2011-12-01

Variant appearance in text: PCSK9: Y142X
PMID: 22081141
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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
S Calandra, P Tarugi, HE Speedy, AF Dean, S Bertolini, CC Shoulders
Publication Date: 2011-11

Variant appearance in text: PCSK9: Y142X; rs67608943
PMID: 21862702
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Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations.

The Pharmacogenomics Journal
K Song, MR Nelson, J Aponte, ES Manas, SA Bacanu, X Yuan, X Kong, L Cardon, VE Mooser, JC Whittaker, DM Waterworth
Publication Date: 2012-10

Variant appearance in text: PCSK9: Y142X
PMID: 21606947
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Testing for an unusual distribution of rare variants.

Plos Genetics
BM Neale, MA Rivas, BF Voight, D Altshuler, B Devlin, M Orho-Melander, S Kathiresan, SM Purcell, K Roeder, MJ Daly
Publication Date: 2011-03

Variant appearance in text: PCSK9: Y142X
PMID: 21408211
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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
RJ Konrad, JS Troutt, G Cao
Publication Date: 2011-02-28

Variant appearance in text: N/A
PMID: 21352602
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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
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: PCSK9: Tyr142Ter
PMID: 20876667
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Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: PCSK9: Y142X
PMID: 20699424
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Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology
LD Parnell, YC Lee, CQ Lai
Publication Date: 2010-04

Variant appearance in text: PCSK9: Y142X
PMID: 20154611
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Longitudinal association of PCSK9 sequence variations with low-density lipoprotein cholesterol levels: the Coronary Artery Risk Development in Young Adults Study.

Circulation. Cardiovascular Genetics
CC Huang, M Fornage, DM Lloyd-Jones, GS Wei, E Boerwinkle, K Liu
Publication Date: 2009-08

Variant appearance in text: PCSK9: Y142X
PMID: 20031607
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Lipoproteins, cholesterol homeostasis and cardiac health.

International Journal Of Biological Sciences
TF Daniels, KM Killinger, JJ Michal, RW Wright, Z Jiang
Publication Date: 2009-06-29

Variant appearance in text: N/A
PMID: 19584955
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Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism
SG Lakoski, TA Lagace, JC Cohen, JD Horton, HH Hobbs
Publication Date: 2009-07

Variant appearance in text: PCSK9: Y142X
PMID: 19351729
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Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.

Journal Of Thrombosis And Haemostasis : Jth
N Franceschini, H Muallem, KM Rose, E Boerwinkle, N Maeda
Publication Date: 2009-03

Variant appearance in text: PCSK9: Y142X
PMID: 19087220
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Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews
JR Burnett, AJ Hooper
Publication Date: 2008-02

Variant appearance in text: PCSK9: Y142X
PMID: 18566665
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Variation in PCSK9, low LDL cholesterol, and risk of peripheral arterial disease.

Atherosclerosis
AR Folsom, JM Peacock, E Boerwinkle,
Publication Date: 2009-01

Variant appearance in text: PCSK9: Y142X
PMID: 18436227
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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: PCSK9: Y142X
PMID: 18300938
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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry
D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber, MF Linton, S Fazio
Publication Date: 2008-02-12

Variant appearance in text: PCSK9: Y142X
PMID: 18197702
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Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Plos One
K Ding, SJ McDonough, IJ Kullo
Publication Date: 2007-10-31

Variant appearance in text: PCSK9: Y142X
PMID: 17971861
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Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity.

The Biochemical Journal
J Li, C Tumanut, JA Gavigan, WJ Huang, EN Hampton, R Tumanut, KF Suen, JW Trauger, G Spraggon, SA Lesley, G Liau, D Yowe, JL Harris
Publication Date: 2007-09-01

Variant appearance in text: N/A
PMID: 17608623
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Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences
JD Horton, JC Cohen, HH Hobbs
Publication Date: 2007-02

Variant appearance in text: PCSK9: Y142X
PMID: 17215125
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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics
Z Zhao, Y Tuakli-Wosornu, TA Lagace, L Kinch, NV Grishin, JD Horton, JC Cohen, HH Hobbs
Publication Date: 2006-09

Variant appearance in text: PCSK9: Y142X
PMID: 16909389
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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics
IK Kotowski, A Pertsemlidis, A Luke, RS Cooper, GL Vega, JC Cohen, HH Hobbs
Publication Date: 2006-03

Variant appearance in text: PCSK9: 426C>G; Y142X
PMID: 16465619
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.426C>G p.Tyr142* stop_gained 3/12 -
ENST00000452118.2 c.426C>G p.Tyr142* stop_gained 3/6 -
ENST00000543384.1 c.-77-5729C>G - intron_variant - 1/9
NM_174936.4 c.426C>G p.Tyr142* stop_gained 3/12 -
NR_110451.1 n.183-5729C>G - intron_variant,non_coding_transcript_variant - 1/9