Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.
Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.
Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12
Variant appearance in text: PCSK9: 158C>T; A53V; rs11583680
PCSK9 loss of function is protective against extra-coronary atherosclerotic cardiovascular disease in a large multi-ethnic cohort.
Plos One
Small, Aeron M AM; Huffman, Jennifer E JE; Klarin, Derek D; Lynch, Julie A JA; Assimes, Themistocles T; DuVall, Scott S; Sun, Yan V YV; Shere, Labiba L; Natarajan, Pradeep P; Gaziano, Michael M; Rader, Daniel J DJ; Wilson, Peter W F PWF; Tsao, Philip S PS; Chang, Kyong-Mi KM; Cho, Kelly K; O'Donnell, Christopher J CJ; Casas, Juan P JP; Damrauer, Scott M SM; ,
Proprotein Convertase Subtilisin/Kexin Type 9 Loss-of-Function Is Detrimental to the Juvenile Host With Septic Shock.
Critical Care Medicine
Atreya, Mihir R MR; Whitacre, Brynne E BE; Cvijanovich, Natalie Z NZ; Bigham, Michael T MT; Thomas, Neal J NJ; Schwarz, Adam J AJ; Weiss, Scott L SL; Fitzgerald, Julie C JC; Allen, Geoffrey L GL; Lutfi, Riad R; Nowak, Jeffrey E JE; Quasney, Michael W MW; Shah, Amy S AS; Wong, Hector R HR
Publication Date: 2020-10
Variant appearance in text: PCSK9: A53V; rs11583680
Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.
Frontiers In Genetics
da Silva Francisco Junior, Ronaldo R; Dos Santos Ferreira, Cristina C; Santos E Silva, Juan Carlo JC; Terra Machado, Douglas D; Côrtes Martins, Yasmmin Y; Ramos, Victor V; Simões Carnivali, Gustavo G; Garcia, Ana Beatriz AB; Medina-Acosta, Enrique E
Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9.
Bmc Cardiovascular Disorders
Schmidt, Amand F AF; Holmes, Michael V MV; Preiss, David D; Swerdlow, Daniel I DI; Denaxas, Spiros S; Fatemifar, Ghazaleh G; Faraway, Rupert R; Finan, Chris C; Valentine, Dennis D; Fairhurst-Hunter, Zammy Z; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hypponen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, Kees K; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Lill, Christina M CM; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert A RA; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Jess, Tine T; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Lester, Kirchner H KH; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; Scott, Rodney R; Schofield, Peter P; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, D O DO; , ; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Meade, Tom T; Christophersen, Ingrid E IE; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Roussel, Ronan R; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Hopewell, Jemma C JC; Seshadri, Sudha S; , ; Dale, Caroline C; Costa, Rui Providencia E RPE; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Ritchie, Marylyn D MD; Lange, Leslie A LA; Cornish, Alex J AJ; Dobbins, Sara E SE; Hemminki, Kari K; Kinnersley, Ben B; Sanson, Marc M; Labreche, Karim K; Simon, Matthias M; Bondy, Melissa M; Law, Philip P; Speedy, Helen H; Allan, James J; Li, Ni N; Went, Molly M; Weinhold, Niels N; Morgan, Gareth G; Sonneveld, Pieter P; Nilsson, Björn B; Goldschmidt, Hartmut H; Sud, Amit A; Engert, Andreas A; Hansson, Markus M; Hemingway, Harry H; Asselbergs, Folkert W FW; Patel, Riyaz S RS; Keating, Brendan J BJ; Sattar, Naveed N; Houlston, Richard R; Casas, Juan P JP; Hingorani, Aroon D AD
A Genetic Approach to the Association Between PCSK9 and Sepsis.
Jama Network Open
Feng, QiPing Q; Wei, Wei-Qi WQ; Chaugai, Sandip S; Carranza Leon, Barbara G BG; Kawai, Vivian V; Carranza Leon, Daniel A DA; Jiang, Lan L; Zhong, Xue X; Liu, Ge G; Ihegword, Andrea A; Shaffer, Christian M CM; Linton, MacRae F MF; Chung, Cecilia P CP; Stein, C Michael CM
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.
Molecular Genetics & Genomic Medicine
Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA
Reduced Proprotein convertase subtilisin/kexin 9 (PCSK9) function increases lipoteichoic acid clearance and improves outcomes in Gram positive septic shock patients.
Scientific Reports
Leung, Alex K K AKK; Genga, Kelly Roveran KR; Topchiy, Elena E; Cirstea, Mihai M; Shimada, Tadanaga T; Fjell, Chris C; Russell, James A JA; Boyd, John H JH; Walley, Keith R KR
Publication Date: 2019-07-22
Variant appearance in text: PCSK9: A53V; rs11583680
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
Impact of PCSK9 loss-of-function genotype on 1-year mortality and recurrent infection in sepsis survivors.
Ebiomedicine
Genga, Kelly Roveran KR; Lo, Cody C; Cirstea, Mihai S MS; Leitao Filho, Fernando Sergio FS; Walley, Keith R KR; Russell, James A JA; Linder, Adam A; Francis, Gordon A GA; Boyd, John H JH
Publication Date: 2018-12
Variant appearance in text: PCSK9: A53V; rs11583680
Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China.
Neural Regeneration Research
Han, Deng-Feng DF; Ma, Jian-Hua JH; Hao, Chen-Guang CG; Tuerhong Tuerxun, ; Du, Lei L; Zhang, Xiao-Ning XN
Publication Date: 2017-08
Variant appearance in text: PCSK9: Ala53Val; rs11583680
PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study.
The Lancet. Diabetes & Endocrinology
Schmidt, Amand F AF; Swerdlow, Daniel I DI; Holmes, Michael V MV; Patel, Riyaz S RS; Fairhurst-Hunter, Zammy Z; Lyall, Donald M DM; Hartwig, Fernando Pires FP; Horta, Bernardo Lessa BL; Hyppönen, Elina E; Power, Christine C; Moldovan, Max M; van Iperen, Erik E; Hovingh, G Kees GK; Demuth, Ilja I; Norman, Kristina K; Steinhagen-Thiessen, Elisabeth E; Demuth, Juri J; Bertram, Lars L; Liu, Tian T; Coassin, Stefan S; Willeit, Johann J; Kiechl, Stefan S; Willeit, Karin K; Mason, Dan D; Wright, John J; Morris, Richard R; Wanamethee, Goya G; Whincup, Peter P; Ben-Shlomo, Yoav Y; McLachlan, Stela S; Price, Jackie F JF; Kivimaki, Mika M; Welch, Catherine C; Sanchez-Galvez, Adelaida A; Marques-Vidal, Pedro P; Nicolaides, Andrew A; Panayiotou, Andrie G AG; Onland-Moret, N Charlotte NC; van der Schouw, Yvonne T YT; Matullo, Giuseppe G; Fiorito, Giovanni G; Guarrera, Simonetta S; Sacerdote, Carlotta C; Wareham, Nicholas J NJ; Langenberg, Claudia C; Scott, Robert R; Luan, Jian'an J; Bobak, Martin M; Malyutina, Sofia S; Pająk, Andrzej A; Kubinova, Ruzena R; Tamosiunas, Abdonas A; Pikhart, Hynek H; Husemoen, Lise Lotte Nystrup LL; Grarup, Niels N; Pedersen, Oluf O; Hansen, Torben T; Linneberg, Allan A; Simonsen, Kenneth Starup KS; Cooper, Jackie J; Humphries, Steve E SE; Brilliant, Murray M; Kitchner, Terrie T; Hakonarson, Hakon H; Carrell, David S DS; McCarty, Catherine A CA; Kirchner, H Lester HL; Larson, Eric B EB; Crosslin, David R DR; de Andrade, Mariza M; Roden, Dan M DM; Denny, Joshua C JC; Carty, Cara C; Hancock, Stephen S; Attia, John J; Holliday, Elizabeth E; O'Donnell, Martin M; Yusuf, Salim S; Chong, Michael M; Pare, Guillaume G; van der Harst, Pim P; Said, M Abdullah MA; Eppinga, Ruben N RN; Verweij, Niek N; Snieder, Harold H; , ; Christen, Tim T; Mook-Kanamori, Dennis O DO; Gustafsson, Stefan S; Lind, Lars L; Ingelsson, Erik E; Pazoki, Raha R; Franco, Oscar O; Hofman, Albert A; Uitterlinden, Andre A; Dehghan, Abbas A; Teumer, Alexander A; Baumeister, Sebastian S; Dörr, Marcus M; Lerch, Markus M MM; Völker, Uwe U; Völzke, Henry H; Ward, Joey J; Pell, Jill P JP; Smith, Daniel J DJ; Meade, Tom T; Maitland-van der Zee, Anke H AH; Baranova, Ekaterina V EV; Young, Robin R; Ford, Ian I; Campbell, Archie A; Padmanabhan, Sandosh S; Bots, Michiel L ML; Grobbee, Diederick E DE; Froguel, Philippe P; Thuillier, Dorothée D; Balkau, Beverley B; Bonnefond, Amélie A; Cariou, Bertrand B; Smart, Melissa M; Bao, Yanchun Y; Kumari, Meena M; Mahajan, Anubha A; Ridker, Paul M PM; Chasman, Daniel I DI; Reiner, Alex P AP; Lange, Leslie A LA; Ritchie, Marylyn D MD; Asselbergs, Folkert W FW; Casas, Juan-Pablo JP; Keating, Brendan J BJ; Preiss, David D; Hingorani, Aroon D AD; , ; Sattar, Naveed N
β-Estradiol results in a proprotein convertase subtilisin/kexin type 9-dependent increase in low-density lipoprotein receptor levels in human hepatic HuH7 cells.
The Febs Journal
Starr, Amanda E AE; Lemieux, Valérie V; Noad, Jenny J; Moore, Jasmine I JI; Dewpura, Thilina T; Raymond, Angela A; Chrétien, Michel M; Figeys, Daniel D; Mayne, Janice J
PCSK9 is a critical regulator of the innate immune response and septic shock outcome.
Science Translational Medicine
Walley, Keith R KR; Thain, Katherine R KR; Russell, James A JA; Reilly, Muredach P MP; Meyer, Nuala J NJ; Ferguson, Jane F JF; Christie, Jason D JD; Nakada, Taka-aki TA; Fjell, Chris D CD; Thair, Simone A SA; Cirstea, Mihai S MS; Boyd, John H JH
Publication Date: 2014-10-15
Variant appearance in text: PCSK9: A53V; rs11583680
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
PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.
Journal Of Lipid Research
Postmus, Iris I; Trompet, Stella S; de Craen, Anton J M AJ; Buckley, Brendan M BM; Ford, Ian I; Stott, David J DJ; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Jukema, J Wouter JW
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.
Journal Of Medical Genetics
Humphries, S E SE; Whittall, R A RA; Hubbart, C S CS; Maplebeck, S S; Cooper, J A JA; Soutar, A K AK; Naoumova, R R; Thompson, G R GR; Seed, M M; Durrington, P N PN; Miller, J P JP; Betteridge, D J B DJ; Neil, H A W HA; ,
Publication Date: 2006-12
Variant appearance in text: PCSK9: A53V; rs11583680