Variant ID: 1-55512222-C-G

NM_174936.3(PCSK9):c.426C>G;(p.Y142*)

This variant was identified in 82 publications

View GRCh38 version.




Publications:


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
View BVdb publication page



The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Metabolites
Lebeau, Paul F PF; Platko, Khrystyna K; Byun, Jae Hyun JH; Makda, Yumna Y; Austin, Richard C RC
Publication Date: 2022-02-26

Variant appearance in text: PCSK9: Y142X
PubMed Link: 35323658
Variant Present in the following documents:
  • metabolites-12-00215.pdf
View BVdb publication page



The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Journal Of Lipid Research
Seidah, Nabil G NG
Publication Date: 2021-10-01

Variant appearance in text: PCSK9: Y142X
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.

Biomedicines
Sundararaman, Sai Sahana SS; Döring, Yvonne Y; van der Vorst, Emiel P C EPC
Publication Date: 2021-07-08

Variant appearance in text: PCSK9: Y142X; rs67608943
PubMed Link: 34356856
Variant Present in the following documents:
  • Main text
  • biomedicines-09-00793.pdf
View BVdb publication page



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
View BVdb publication page



PCSK9 Biology and Its Role in Atherothrombosis.

International Journal Of Molecular Sciences
Barale, Cristina C; Melchionda, Elena E; Morotti, Alessandro A; Russo, Isabella I
Publication Date: 2021-05-30

Variant appearance in text: PCSK9: Y142X
PubMed Link: 34070931
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Endocrinology And Metabolism (Seoul, Korea)
Tomlinson, Brian B; Patil, Nivritti Gajanan NG; Fok, Manson M; Lam, Christopher Wai Kei CWK
Publication Date: 2021-04

Variant appearance in text: PCSK9: 426C>G; Y142X; rs67608943
PubMed Link: 33866776
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: PCSK9: Tyr142*
PubMed Link: 33295962
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipoprotein(a) and PCSK9 inhibition: clinical evidence.

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

Variant appearance in text: PCSK9: Y142X; rs67608943
PubMed Link: 33239979
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Frontiers In Genetics
Guo, Qianyun Q; Feng, Xunxun X; Zhou, Yujie Y
Publication Date: 2020

Variant appearance in text: PCSK9: Y142X
PubMed Link: 33173529
Variant Present in the following documents:
  • Main text
View BVdb publication page



PCSK9: A Key Target for the Treatment of Cardiovascular Disease (CVD).

Advanced Pharmaceutical Bulletin
Sobati, Saeideh S; Shakouri, Amir A; Edalati, Mahdi M; Mohammadnejad, Daryoush D; Parvan, Reza R; Masoumi, Javad J; Abdolalizadeh, Jalal J
Publication Date: 2020-09

Variant appearance in text: PCSK9: Y142X
PubMed Link: 33062601
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: PCSK9: Tyr142Ter
PubMed Link: 32948841
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



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



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



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



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



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



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



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



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
View BVdb publication page



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

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

Variant appearance in text: rs67608943
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: PCSK9: Y142X; rs67608943
PubMed Link: 30726226
Variant Present in the following documents:
  • Main text
View BVdb publication page



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



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



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



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



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



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



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
View BVdb publication page