Publications:

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PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Cells

Alannan, Malak M; Seidah, Nabil G NG; Merched, Aksam J AJ

Publication Date: 2022-12-19

Variant appearance in text: PCSK9: L253F

PubMed Link: 36552895

Variant Present in the following documents:

• Main text
• cells-11-04132.pdf

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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: L253F

PubMed Link: 35323658

Variant Present in the following documents:

• Main text
• metabolites-12-00215.pdf

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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: L253F

PubMed Link: 35162992

Variant Present in the following documents:

• Main text

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PCSK9: L253F; rs72646508

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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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: L253F

PubMed Link: 34782856

Variant Present in the following documents:

• Main text
• fcvm-08-764038.pdf

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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: 757C>T; Leu253Phe; rs72646508

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

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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: L253F

PubMed Link: 33173529

Variant Present in the following documents:

• Main text
• fgene-11-01020.pdf

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Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

American Journal Of Human Genetics

Kim, Hye In HI; Ye, Bin B; Gosalia, Nehal N; , ; Köroğlu, Çiğdem Ç; Hanson, Robert L RL; Hsueh, Wen-Chi WC; Knowler, William C WC; Baier, Leslie J LJ; Bogardus, Clifton C; Shuldiner, Alan R AR; Van Hout, Cristopher V CV

Publication Date: 2020-08-06

Variant appearance in text: PCSK9: Leu253Phe

PubMed Link: 32640185

Variant Present in the following documents:

• Main text

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: PCSK9: 757C>T; Leu253Phe

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4

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Identifying individual risk rare variants using protein structure guided local tests (POINT).

Plos Computational Biology

Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY

Publication Date: 2019-02

Variant appearance in text: rs72646508

PubMed Link: 30779729

Variant Present in the following documents:

• Main text
• pcbi.1006722.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs72646508

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PCSK9: L253F

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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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: Leu253Phe; rs72646508

PubMed Link: 26902539

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: HCHOLA3: L253F

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCSK9: L253F

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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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: 757C>T; L253F; rs72646508

PubMed Link: 25904937

Variant Present in the following documents:

• Main text

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Molecular and cellular function of the proprotein convertase subtilisin/kexin type 9 (PCSK9).

Basic Research In Cardiology

Schulz, Rainer R; Schlüter, Klaus-Dieter KD; Laufs, Ulrich U

Publication Date: 2015-03

Variant appearance in text: PCSK9: L253F

PubMed Link: 25600226

Variant Present in the following documents:

• 395_2015_Article_463.pdf

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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: L253F; rs72646508

PubMed Link: 25412415

Variant Present in the following documents:

• Main text

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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: L253F

PubMed Link: 24334831

Variant Present in the following documents:

• Main text
• mpp-0023-0099.pdf

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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: L253F; rs72646508

PubMed Link: 23555291

Variant Present in the following documents:

• Main text
• pgen.1003379.pdf

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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

Huang, Chiang-Ching CC; Fornage, Myriam M; Lloyd-Jones, Donald M DM; Wei, Gina S GS; Boerwinkle, Eric E; Liu, Kiang K

Publication Date: 2009-08

Variant appearance in text: PCSK9: L253F

PubMed Link: 20031607

Variant Present in the following documents:

• Main text

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Genetic and metabolic determinants of plasma PCSK9 levels.

The Journal Of Clinical Endocrinology And Metabolism

Lakoski, Susan G SG; Lagace, Thomas A TA; Cohen, Jonathan C JC; Horton, Jay D JD; Hobbs, Helen H HH

Publication Date: 2009-07

Variant appearance in text: PCSK9: L253F

PubMed Link: 19351729

Variant Present in the following documents:

• Main text

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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

Ding, Keyue K; McDonough, Samantha J SJ; Kullo, Iftikhar J IJ

Publication Date: 2007-10-31

Variant appearance in text: PCSK9: L253F

PubMed Link: 17971861

Variant Present in the following documents:

• Main text

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The self-inhibited structure of full-length PCSK9 at 1.9 A reveals structural homology with resistin within the C-terminal domain.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hampton, Eric N EN; Knuth, Mark W MW; Li, Jun J; Harris, Jennifer L JL; Lesley, Scott A SA; Spraggon, Glen G

Publication Date: 2007-09-11

Variant appearance in text: PCSK9: L253F

PubMed Link: 17804797

Variant Present in the following documents:

• Main text

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Molecular biology of PCSK9: its role in LDL metabolism.

Trends In Biochemical Sciences

Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2007-02

Variant appearance in text: PCSK9: L253F

PubMed Link: 17215125

Variant Present in the following documents:

• Main text

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Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

American Journal Of Human Genetics

Zhao, Zhenze Z; Tuakli-Wosornu, Yetsa Y; Lagace, Thomas A TA; Kinch, Lisa L; Grishin, Nicholas V NV; Horton, Jay D JD; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2006-09

Variant appearance in text: PCSK9: L253F

PubMed Link: 16909389

Variant Present in the following documents:

• Main text

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A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

American Journal Of Human Genetics

Kotowski, Ingrid K IK; Pertsemlidis, Alexander A; Luke, Amy A; Cooper, Richard S RS; Vega, Gloria L GL; Cohen, Jonathan C JC; Hobbs, Helen H HH

Publication Date: 2006-03

Variant appearance in text:

PubMed Link: 16465619

Variant Present in the following documents:

• Main text

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