Variant ID: 1-55523867-AGC-TGA

NM_174936.3(PCSK9):c.1339_1341delinsTGA;(p.S447*)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Causes, clinical findings and therapeutic options in chylomicronemia syndrome, a special form of hypertriglyceridemia.

Lipids In Health And Disease
Paragh, György G; Németh, Ákos Á; Harangi, Mariann M; Banach, Maciej M; Fülöp, Péter P
Publication Date: 2022-02-10

Variant appearance in text: PCSK9: S447X
PubMed Link: 35144640
Variant Present in the following documents:
  • 12944_2022_Article_1631.pdf
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Managing of Dyslipidaemia Characterized by Accumulation of Triglyceride-Rich Lipoproteins.

Current Atherosclerosis Reports
Visser, Jolien J; van Zwol, Willemien W; Kuivenhoven, Jan Albert JA
Publication Date: 2022-02-02

Variant appearance in text: PCSK9: S447X
PubMed Link: 35107764
Variant Present in the following documents:
  • 11883_2022_Article_979.pdf
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Pairwise effects between lipid GWAS genes modulate lipid plasma levels and cellular uptake.

Nature Communications
Zimoń, Magdalena M; Huang, Yunfeng Y; Trasta, Anthi A; Halavatyi, Aliaksandr A; Liu, Jimmy Z JZ; Chen, Chia-Yen CY; Blattmann, Peter P; Klaus, Bernd B; Whelan, Christopher D CD; Sexton, David D; John, Sally S; Huber, Wolfgang W; Tsai, Ellen A EA; Pepperkok, Rainer R; Runz, Heiko H
Publication Date: 2021-11-05

Variant appearance in text: PCSK9: S447X
PubMed Link: 34741066
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_26761.pdf
  • 41467_2021_26761_MOESM2_ESM.pdf
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Genetics Insights in the Relationship Between Type 2 Diabetes and Coronary Heart Disease.

Circulation Research
Goodarzi, Mark O MO; Rotter, Jerome I JI
Publication Date: 2020-05-22

Variant appearance in text: PCSK9: S447X
PubMed Link: 32437307
Variant Present in the following documents:
  • Main text
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Gene-environment interactions due to quantile-specific heritability of triglyceride and VLDL concentrations.

Scientific Reports
Williams, Paul T PT
Publication Date: 2020-03-11

Variant appearance in text: PCSK9: S447X
PubMed Link: 32161301
Variant Present in the following documents:
  • Main text
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Quantile-dependent expressivity of postprandial lipemia.

Plos One
Williams, Paul T PT
Publication Date: 2020

Variant appearance in text: PCSK9: S447X
PubMed Link: 32101585
Variant Present in the following documents:
  • Main text
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Clinical review on triglycerides.

European Heart Journal
Laufs, Ulrich U; Parhofer, Klaus G KG; Ginsberg, Henry N HN; Hegele, Robert A RA
Publication Date: 2020-01-01

Variant appearance in text: PCSK9: S447X
PubMed Link: 31764986
Variant Present in the following documents:
  • Main text
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Lipoprotein lipase: new roles for an 'old' enzyme.

Current Opinion In Clinical Nutrition And Metabolic Care
Chang, Chuchun L CL
Publication Date: 2019-03

Variant appearance in text: PCSK9: Ser447Ter
PubMed Link: 30648986
Variant Present in the following documents:
  • Main text
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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: Ser447Ter
PubMed Link: 30571611
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies a missense variant at APOA5 for coronary artery disease in Multi-Ethnic Cohorts from Southeast Asia.

Scientific Reports
Han, Yi Y; Dorajoo, Rajkumar R; Chang, Xuling X; Wang, Ling L; Khor, Chiea-Chuen CC; Sim, Xueling X; Cheng, Ching-Yu CY; Shi, Yuan Y; Tham, Yih Chung YC; Zhao, Wanting W; Chee, Miao Ling ML; Sabanayagam, Charumathi C; Chee, Miao Li ML; Tan, Nicholas N; Wong, Tien Yin TY; Tai, E-Shyong ES; Liu, Jianjun J; Goh, Daniel Y T DYT; Yuan, Jian-Min JM; Koh, Woon-Puay WP; van Dam, Rob M RM; Low, Adrian F AF; Chan, Mark Yan-Yee MY; Friedlander, Yechiel Y; Heng, Chew-Kiat CK
Publication Date: 2017-12-20

Variant appearance in text: PCSK9: S447X
PubMed Link: 29263402
Variant Present in the following documents:
  • Main text
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Cardiovascular Gene Therapy: Past, Present, and Future.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Ylä-Herttuala, Seppo S; Baker, Andrew H AH
Publication Date: 2017-05-03

Variant appearance in text: PCSK9: S447X
PubMed Link: 28389321
Variant Present in the following documents:
  • Main text
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Genetics of Lipid and Lipoprotein Disorders and Traits.

Current Genetic Medicine Reports
Dron, Jacqueline S JS; Hegele, Robert A RA
Publication Date: 2016

Variant appearance in text: PCSK9: S447X
PubMed Link: 28286704
Variant Present in the following documents:
  • Main text
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Atherosclerosis in 2016: Advances in new therapeutic targets for atherosclerosis.

Nature Reviews. Cardiology
Tang, W H Wilson WH; Hazen, Stanley L SL
Publication Date: 2017-01-17

Variant appearance in text: PCSK9: S447*
PubMed Link: 28094270
Variant Present in the following documents:
  • Main text
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Human genetic insights into lipoproteins and risk of cardiometabolic disease.

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

Variant appearance in text: PCSK9: S447*
PubMed Link: 28059951
Variant Present in the following documents:
  • Main text
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Genetic susceptibility to cerebrovascular disease.

Current Opinion In Lipidology
Della-Morte, David D; Pacifici, Francesca F; Rundek, Tatjana T
Publication Date: 2016-04

Variant appearance in text: PCSK9: Ser447Ter
PubMed Link: 26959706
Variant Present in the following documents:
  • Main text
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

The New England Journal Of Medicine
, ; Stitziel, Nathan O NO; Stirrups, Kathleen E KE; Masca, Nicholas G D NG; Erdmann, Jeanette J; Ferrario, Paola G PG; König, Inke R IR; Weeke, Peter E PE; Webb, Thomas R TR; Auer, Paul L PL; Schick, Ursula M UM; Lu, Yingchang Y; Zhang, He H; Dube, Marie-Pierre MP; Goel, Anuj A; Farrall, Martin M; Peloso, Gina M GM; Won, Hong-Hee HH; Do, Ron R; van Iperen, Erik E; Kanoni, Stavroula S; Kruppa, Jochen J; Mahajan, Anubha A; Scott, Robert A RA; Willenberg, Christina C; Braund, Peter S PS; van Capelleveen, Julian C JC; Doney, Alex S F AS; Donnelly, Louise A LA; Asselta, Rosanna R; Merlini, Piera A PA; Duga, Stefano S; Marziliano, Nicola N; Denny, Josh C JC; Shaffer, Christian M CM; El-Mokhtari, Nour Eddine NE; Franke, Andre A; Gottesman, Omri O; Heilmann, Stefanie S; Hengstenberg, Christian C; Hoffman, Per P; Holmen, Oddgeir L OL; Hveem, Kristian K; Jansson, Jan-Håkan JH; Jöckel, Karl-Heinz KH; Kessler, Thorsten T; Kriebel, Jennifer J; Laugwitz, Karl L KL; Marouli, Eirini E; Martinelli, Nicola N; McCarthy, Mark I MI; Van Zuydam, Natalie R NR; Meisinger, Christa C; Esko, Tõnu T; Mihailov, Evelin E; Escher, Stefan A SA; Alver, Maris M; Moebus, Susanne S; Morris, Andrew D AD; Müller-Nurasyid, Martina M; Nikpay, Majid M; Olivieri, Oliviero O; Lemieux Perreault, Louis-Philippe LP; AlQarawi, Alaa A; Robertson, Neil R NR; Akinsanya, Karen O KO; Reilly, Dermot F DF; Vogt, Thomas F TF; Yin, Wu W; Asselbergs, Folkert W FW; Kooperberg, Charles C; Jackson, Rebecca D RD; Stahl, Eli E; Strauch, Konstantin K; Varga, Tibor V TV; Waldenberger, Melanie M; Zeng, Lingyao L; Kraja, Aldi T AT; Liu, Chunyu C; Ehret, George B GB; Newton-Cheh, Christopher C; Chasman, Daniel I DI; Chowdhury, Rajiv R; Ferrario, Marco M; Ford, Ian I; Jukema, J Wouter JW; Kee, Frank F; Kuulasmaa, Kari K; Nordestgaard, Børge G BG; Perola, Markus M; Saleheen, Danish D; Sattar, Naveed N; Surendran, Praveen P; Tregouet, David D; Young, Robin R; Howson, Joanna M M JM; Butterworth, Adam S AS; Danesh, John J; Ardissino, Diego D; Bottinger, Erwin P EP; Erbel, Raimund R; Franks, Paul W PW; Girelli, Domenico D; Hall, Alistair S AS; Hovingh, G Kees GK; Kastrati, Adnan A; Lieb, Wolfgang W; Meitinger, Thomas T; Kraus, William E WE; Shah, Svati H SH; McPherson, Ruth R; Orho-Melander, Marju M; Melander, Olle O; Metspalu, Andres A; Palmer, Colin N A CN; Peters, Annette A; Rader, Daniel D; Reilly, Muredach P MP; Loos, Ruth J F RJ; Reiner, Alex P AP; Roden, Dan M DM; Tardif, Jean-Claude JC; Thompson, John R JR; Wareham, Nicholas J NJ; Watkins, Hugh H; Willer, Cristen J CJ; Kathiresan, Sekkar S; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H
Publication Date: 2016-03-24

Variant appearance in text: PCSK9: S447*
PubMed Link: 26934567
Variant Present in the following documents:
  • Main text
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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: S447X
PubMed Link: 26844526
Variant Present in the following documents:
  • Main text
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Antilipidemic Drug Therapy Today and in the Future.

Handbook Of Experimental Pharmacology
Kramer, Werner W
Publication Date: 2016

Variant appearance in text: PCSK9: S447X
PubMed Link: 26330256
Variant Present in the following documents:
  • Main text
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Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population.

Plos One
Beaney, Katherine E KE; Cooper, Jackie A JA; Ullah Shahid, Saleem S; Ahmed, Waqas W; Qamar, Raheel R; Drenos, Fotios F; Crockard, Martin A MA; Humphries, Steve E SE
Publication Date: 2015

Variant appearance in text: PCSK9: S447X
PubMed Link: 26133560
Variant Present in the following documents:
  • Main text
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The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

The Lancet. Diabetes & Endocrinology
Hegele, Robert A RA; Ginsberg, Henry N HN; Chapman, M John MJ; Nordestgaard, Børge G BG; Kuivenhoven, Jan Albert JA; Averna, Maurizio M; Borén, Jan J; Bruckert, Eric E; Catapano, Alberico L AL; Descamps, Olivier S OS; Hovingh, G Kees GK; Humphries, Steve E SE; Kovanen, Petri T PT; Masana, Luis L; Pajukanta, Päivi P; Parhofer, Klaus G KG; Raal, Frederick J FJ; Ray, Kausik K KK; Santos, Raul D RD; Stalenhoef, Anton F H AF; Stroes, Erik E; Taskinen, Marja-Riitta MR; Tybjærg-Hansen, Anne A; Watts, Gerald F GF; Wiklund, Olov O; ,
Publication Date: 2014-08

Variant appearance in text: PCSK9: S447X
PubMed Link: 24731657
Variant Present in the following documents:
  • Main text
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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: S447X
PubMed Link: 23555291
Variant Present in the following documents:
  • Main text
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Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Waterworth, Dawn M DM; Ricketts, Sally L SL; Song, Kijoung K; Chen, Li L; Zhao, Jing Hua JH; Ripatti, Samuli S; Aulchenko, Yurii S YS; Zhang, Weihua W; Yuan, Xin X; Lim, Noha N; Luan, Jian'an J; Ashford, Sofie S; Wheeler, Eleanor E; Young, Elizabeth H EH; Hadley, David D; Thompson, John R JR; Braund, Peter S PS; Johnson, Toby T; Struchalin, Maksim M; Surakka, Ida I; Luben, Robert R; Khaw, Kay-Tee KT; Rodwell, Sheila A SA; Loos, Ruth J F RJ; Boekholdt, S Matthijs SM; Inouye, Michael M; Deloukas, Panagiotis P; Elliott, Paul P; Schlessinger, David D; Sanna, Serena S; Scuteri, Angelo A; Jackson, Anne A; Mohlke, Karen L KL; Tuomilehto, Jaako J; Roberts, Robert R; Stewart, Alexandre A; Kesäniemi, Y Antero YA; Mahley, Robert W RW; Grundy, Scott M SM; , ; McArdle, Wendy W; Cardon, Lon L; Waeber, Gérard G; Vollenweider, Peter P; Chambers, John C JC; Boehnke, Michael M; Abecasis, Gonçalo R GR; Salomaa, Veikko V; Järvelin, Marjo-Riitta MR; Ruokonen, Aimo A; Barroso, Inês I; Epstein, Stephen E SE; Hakonarson, Hakon H HH; Rader, Daniel J DJ; Reilly, Muredach P MP; Witteman, Jacqueline C M JC; Hall, Alistair S AS; Samani, Nilesh J NJ; Strachan, David P DP; Barter, Philip P; van Duijn, Cornelia M CM; Kooner, Jaspal S JS; Peltonen, Leena L; Wareham, Nicholas J NJ; McPherson, Ruth R; Mooser, Vincent V; Sandhu, Manjinder S MS
Publication Date: 2010-11

Variant appearance in text: PCSK9: S447X
PubMed Link: 20864672
Variant Present in the following documents:
  • Main text
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Candidate gene association resource (CARe): design, methods, and proof of concept.

Circulation. Cardiovascular Genetics
Musunuru, Kiran K; Lettre, Guillaume G; Young, Taylor T; Farlow, Deborah N DN; Pirruccello, James P JP; Ejebe, Kenechi G KG; Keating, Brendan J BJ; Yang, Qiong Q; Chen, Ming-Huei MH; Lapchyk, Nina N; Crenshaw, Andrew A; Ziaugra, Liuda L; Rachupka, Anthony A; Benjamin, Emelia J EJ; Cupples, L Adrienne LA; Fornage, Myriam M; Fox, Ervin R ER; Heckbert, Susan R SR; Hirschhorn, Joel N JN; Newton-Cheh, Christopher C; Nizzari, Marcia M MM; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patel, Sanjay R SR; Psaty, Bruce M BM; Rader, Daniel J DJ; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Wilson, James G JG; Kathiresan, Sekar S; Fabsitz, Richard R RR; Boerwinkle, Eric E; Gabriel, Stacey B SB; ,
Publication Date: 2010-06

Variant appearance in text: PCSK9: Ser447X
PubMed Link: 20400780
Variant Present in the following documents:
  • Main text
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