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

Variant ID: 1-55512222-C-G

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

This variant was identified in 93 publications

View GRCh38 version.




Publications:


Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.

Frontiers In Cardiovascular Medicine
Ma, Minglu M; Hou, Chang C; Liu, Jian J
Publication Date: 2023

Variant appearance in text: PCSK9: Y142X
PubMed Link: 36970356
Variant Present in the following documents:
  • Main text
  • fcvm-10-1148486.pdf
View BVdb publication page



Genetic outline of the hermeneutics of the diseases connection phenomenon in human.

Vavilovskii Zhurnal Genetiki I Selektsii
Bragina, E Yu EY; Puzyrev, V P VP
Publication Date: 2023-03

Variant appearance in text: PCSK9: Y142X
PubMed Link: 36923482
Variant Present in the following documents:
  • Main text
  • VJGB-27-2303.pdf
View BVdb publication page



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: Y142X
PubMed Link: 36552895
Variant Present in the following documents:
  • Main text
  • cells-11-04132.pdf
View BVdb publication page



Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: PCSK9: Tyr142*
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



Association of Low-Density Lipoprotein Cholesterol Levels with More than 20-Year Risk of Cardiovascular and All-Cause Mortality in the General Population.

Journal Of The American Heart Association
Rong, Shuang S; Li, Benchao B; Chen, Liangkai L; Sun, Yangbo Y; Du, Yang Y; Liu, Buyun B; Robinson, Jennifer G JG; Bao, Wei W
Publication Date: 2022-08-02

Variant appearance in text: PCSK9: Y142X
PubMed Link: 35904192
Variant Present in the following documents:
  • Main text
  • JAH3-11-e023690.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:
  • Main text
  • 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

Variant appearance in text: PCSK9: Y142X
PubMed Link: 34606887
Variant Present in the following documents:
  • Main text
  • main.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
  • 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2
  • 41467_2021_Article_23556.pdf
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
  • ijms-22-05880.pdf
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
  • enm-2021-964.pdf
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
  • fgene-11-01020.pdf
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
  • 10038_2020_Article_845.pdf
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
  • cln-75-1913.pdf
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
  • fnins-14-00609.pdf
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
  • pgen.1008684.pdf
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
  • JAH3-9-e013808.pdf
View BVdb publication page



Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs67608943
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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



Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

Nature Communications
Oetjens, M T MT; Kelly, M A MA; Sturm, A C AC; Martin, C L CL; Ledbetter, D H DH
Publication Date: 2019-10-25

Variant appearance in text: PCSK9: 426C>G
PubMed Link: 31653860
Variant Present in the following documents:
  • 41467_2019_12869_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: PCSK9: 426C>G; Tyr142*; rs67608943
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
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
  • pone.0210808.pdf
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
PubMed Link: 29447211
Variant Present in the following documents:
  • Main text
  • pone.0192850.pdf
View BVdb publication page



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: rs67608943
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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
  • gcsp-2017-1-e201702.pdf
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

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PubMed Link: 28501801
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PCSK9 as a therapeutic target for cardiovascular disease.

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

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PubMed Link: 28450903
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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

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PubMed Link: 28439730
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  • 395_2017_Article_619.pdf
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