Publications:

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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: Y142X

PubMed Link: 35323699

Variant Present in the following documents:

• metabolites-12-00256.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: Y142X

PubMed Link: 35323658

Variant Present in the following documents:

• metabolites-12-00215.pdf

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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: Y142X

PubMed Link: 34606887

Variant Present in the following documents:

• Main text
• main.pdf

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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: Y142X; rs67608943

PubMed Link: 34356856

Variant Present in the following documents:

• Main text
• biomedicines-09-00793.pdf

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Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications

Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS

Publication Date: 2021-06-09

Variant appearance in text: PCSK9: Tyr142Ter

PubMed Link: 34108472

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 34070931

Variant Present in the following documents:

• Main text

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Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Endocrinology And Metabolism (Seoul, Korea)

Tomlinson, Brian B; Patil, Nivritti Gajanan NG; Fok, Manson M; Lam, Christopher Wai Kei CWK

Publication Date: 2021-04

Variant appearance in text: PCSK9: 426C>G; Y142X; rs67608943

PubMed Link: 33866776

Variant Present in the following documents:

• Main text

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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: Tyr142*

PubMed Link: 33295962

Variant Present in the following documents:

• Main text

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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: Y142X; rs67608943

PubMed Link: 33239979

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 33173529

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 33062601

Variant Present in the following documents:

• Main text

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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: Tyr142Ter

PubMed Link: 32948841

Variant Present in the following documents:

• Main text

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SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Clinics (Sao Paulo, Brazil)

Lerario, Antonio Marcondes AM; Mohan, Dipika R DR; Montenegro, Luciana Ribeiro LR; Funari, Mariana Ferreira de Assis MFA; Nishi, Mirian Yumie MY; Narcizo, Amanda de Moraes AM; Benedetti, Anna Flavia Figueredo AFF; Oba-Shinjo, Sueli Mieko SM; Vitorino, Aurélio José AJ; Santos, Rogério Alexandre Scripnic Xavier Dos RASXD; Jorge, Alexander Augusto de Lima AAL; Onuchic, Luiz Fernando LF; Marie, Suely Kazue Nagahashi SKN; Mendonca, Berenice Bilharinho BB

Publication Date: 2020

Variant appearance in text: PCSK9: Tyr142X; rs67608943

PubMed Link: 32785571

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X; rs67608943

PubMed Link: 32635396

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X

PubMed Link: 32595449

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Tyr142Ter; rs67608943

PubMed Link: 32496918

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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: rs67608943

PubMed Link: 32226016

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Tyr142Ter

PubMed Link: 32173689

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Journal Of The American Heart Association

Pottinger, Tess D TD; Puckelwartz, Megan J MJ; Pesce, Lorenzo L LL; Robinson, Avery A; Kearns, Samuel S; Pacheco, Jennifer A JA; Rasmussen-Torvik, Laura J LJ; Smith, Maureen E ME; Chisholm, Rex R; McNally, Elizabeth M EM

Publication Date: 2020-02-04

Variant appearance in text: PCSK9: Tyr142Ter

PubMed Link: 32009526

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping and Frequency of PCSK9 Variations Among Hypercholesterolemic and Diabetic Subjects.

Indian Journal Of Clinical Biochemistry : Ijcb

Nuglozeh, Edem E; Fazaludeen, Mohammad Feroze MF; Hasona, Nabil N; Malm, Tarja T; Mayor, Luisito B LB; Al-Hazmi, Awdah A; Ashankyty, Ibraheem I

Publication Date: 2019-10

Variant appearance in text: PCSK9: Y142X

PubMed Link: 31686731

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X; rs67608943

PubMed Link: 31511398

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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: Y142X

PubMed Link: 30899674

Variant Present in the following documents:

• Main text

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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: rs67608943

PubMed Link: 30774981

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

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: Y142X; rs67608943

PubMed Link: 30726226

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Emerging Role of PCSK9 Inhibitors in Preventive Cardiology.

European Cardiology

Pitts, Reynaria N RN; Eckel, Robert H RH

Publication Date: 2014-12

Variant appearance in text: PCSK9: Y142X

PubMed Link: 30310488

Variant Present in the following documents:

• Main text

View BVdb publication page

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PCSK9: From Basic Science Discoveries to Clinical Trials.

Circulation Research

Shapiro, Michael D MD; Tavori, Hagai H; Fazio, Sergio S

Publication Date: 2018-05-11

Variant appearance in text: PCSK9: Y142X

PubMed Link: 29748367

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 426C>G; Y142X

PubMed Link: 29447211

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X; rs67608943

PubMed Link: 29146683

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X

PubMed Link: 29020353

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X

PubMed Link: 28971102

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Y142X; rs67608943

PubMed Link: 28768753

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 28600283

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 28501801

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 28450903

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 28439730

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 28112180

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: Y142*

PubMed Link: 28059951

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 27567901

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 27496869

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 27422940

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 27284008

Variant Present in the following documents:

• Main text

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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: Y142X

PubMed Link: 27189168

Variant Present in the following documents:

• Main text

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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: Y142X; rs67608943

PubMed Link: 26902539

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: Y142X

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: Y142X

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: 426C>G; rs67608943

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: 426C>G; Y142X; rs67608943

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: Y142X

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: Y142X; rs67608943

PubMed Link: 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

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: 426C>G; rs67608943

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: Y142X

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: Y142X

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: Y142X

PubMed Link: 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

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: Y142X

PubMed Link: 23663650

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Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.

Journal Of Clinical Lipidology

Cohen, Jonathan C JC

Publication Date: 2013

Variant appearance in text: PCSK9: Y142X

PubMed Link: 23642322

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Bile acid and sterol metabolism with combined HMG-CoA reductase and PCSK9 suppression.

Journal Of Lipid Research

Parker, Rex A RA; Garcia, Ricardo R; Ryan, Carol S CS; Liu, Xiaoqin X; Shipkova, Petia P; Livanov, Valentin V; Patel, Pritesh P; Ho, Siew P SP

Publication Date: 2013-09

Variant appearance in text: PCSK9: Y142X

PubMed Link: 23614904

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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: Y142X; rs67608943

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: Y142X

PubMed Link: 23308045

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Exome sequencing and complex disease: practical aspects of rare variant association studies.

Human Molecular Genetics

Do, Ron R; Kathiresan, Sekar S; Abecasis, Gonçalo R GR

Publication Date: 2012-10-15

Variant appearance in text: PCSK9: Y142X

PubMed Link: 22983955

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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: Y142X

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: Y142X

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: Y142X

PubMed Link: 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

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: Y142X; rs67608943

PubMed Link: 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

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: Y142X

PubMed Link: 21606947

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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: Y142X

PubMed Link: 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

Konrad, Robert J RJ; Troutt, Jason S JS; Cao, Guoqing G

Publication Date: 2011-02-28

Variant appearance in text: PCSK9: Y142X

PubMed Link: 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

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: PCSK9: Tyr142Ter

PubMed Link: 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

Guella, Ilaria I; Asselta, Rosanna R; Ardissino, Diego D; Merlini, Pier Angelica PA; Peyvandi, Flora F; Kathiresan, Sekar S; Mannucci, Pier Mannuccio PM; Tubaro, Marco M; Duga, Stefano S

Publication Date: 2010-11

Variant appearance in text: PCSK9: Y142X

PubMed Link: 20699424

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Adaptive genetic variation and heart disease risk.

Current Opinion In Lipidology

Parnell, Laurence D LD; Lee, Yu-Chi YC; Lai, Chao-Qiang CQ

Publication Date: 2010-04

Variant appearance in text: PCSK9: Y142X

PubMed Link: 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

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: Y142X

PubMed Link: 20031607

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Lipoproteins, cholesterol homeostasis and cardiac health.

International Journal Of Biological Sciences

Daniels, Tyler F TF; Killinger, Karen M KM; Michal, Jennifer J JJ; Wright, Raymond W RW; Jiang, Zhihua Z

Publication Date: 2009-06-29

Variant appearance in text: PCSK9: Y142X

PubMed Link: 19584955

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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: Y142X

PubMed Link: 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

Franceschini, N N; Muallem, H H; Rose, K M KM; Boerwinkle, E E; Maeda, N N

Publication Date: 2009-03

Variant appearance in text: PCSK9: Y142X

PubMed Link: 19087220

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Common and rare gene variants affecting plasma LDL cholesterol.

The Clinical Biochemist. Reviews

Burnett, John R JR; Hooper, Amanda J AJ

Publication Date: 2008-02

Variant appearance in text: PCSK9: Y142X

PubMed Link: 18566665

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Variation in PCSK9, low LDL cholesterol, and risk of peripheral arterial disease.

Atherosclerosis

Folsom, Aaron R AR; Peacock, James M JM; Boerwinkle, Eric E; ,

Publication Date: 2009-01

Variant appearance in text: PCSK9: Y142X

PubMed Link: 18436227

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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics

Ding, Keyue K; Kullo, Iftikhar J IJ

Publication Date: 2008-03

Variant appearance in text: PCSK9: Y142X

PubMed Link: 18300938

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Self-association of human PCSK9 correlates with its LDLR-degrading activity.

Biochemistry

Fan, Daping D; Yancey, Patricia G PG; Qiu, Shenfeng S; Ding, Lei L; Weeber, Edwin J EJ; Linton, MacRae F MF; Fazio, Sergio S

Publication Date: 2008-02-12

Variant appearance in text: PCSK9: Y142X

PubMed Link: 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

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

Publication Date: 2007-10-31

Variant appearance in text: PCSK9: Y142X

PubMed Link: 17971861

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Secreted PCSK9 promotes LDL receptor degradation independently of proteolytic activity.

The Biochemical Journal

Li, Jun J; Tumanut, Christine C; Gavigan, Julie-Ann JA; Huang, Waan-Jeng WJ; Hampton, Eric N EN; Tumanut, Rachelle R; Suen, Ka Fai KF; Trauger, John W JW; Spraggon, Glen G; Lesley, Scott A SA; Liau, Gene G; Yowe, David D; Harris, Jennifer L JL

Publication Date: 2007-09-01

Variant appearance in text: PCSK9: Y142X

PubMed Link: 17608623

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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: Y142X

PubMed Link: 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

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: Y142X

PubMed Link: 16909389

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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

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