JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.
Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21
Variant appearance in text: PCSK9: 1327G>A; A443T; rs28362263
Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.
Association Between Circulating Proprotein Convertase Subtilisin/Kexin Type 9 Concentrations and Cardiovascular Events in Cardiovascular Disease: A Systemic Review and Meta-Analysis.
Frontiers In Cardiovascular Medicine
Liu, Jiahui J; Fan, Fangfang F; Luo, Xingyu X; Ji, Wenjun W; Liu, Yaokun Y; Zhang, Yan Y; Zheng, Bo B
FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.
Scientific Reports
Fath, Felix F; Bengeser, Andreas A; Barresi, Mathias M; Binner, Priska P; Schwab, Stefanie S; Ray, Kausik K KK; Krämer, Bernhard K BK; Fraass, Uwe U; März, Winfried W
Publication Date: 2021-10-14
Variant appearance in text: PCSK9: 1327G>A; Ala443Thr
Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.
Human Molecular Genetics
Pott, Janne J; Gådin, Jesper R JR; Theusch, Elizabeth E; Kleber, Marcus E ME; Delgado, Graciela E GE; Kirsten, Holger H; Hauck, Stefanie M SM; Burkhardt, Ralph R; Scharnagl, Hubert H; Krauss, Ronald M RM; Loeffler, Markus M; März, Winfried W; Thiery, Joachim J; Silveira, Angela A; Van't Hooft, Ferdinand M FM; Scholz, Markus M
Publication Date: 2022-03-21
Variant appearance in text: PCSK9: A443T; rs28362263
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Open Heart
Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ
Publication Date: 2021-07
Variant appearance in text: PCSK9: 1327G>A; Ala443Thr; rs28362263
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Nature Genetics
Li, Xihao X; Li, Zilin Z; Zhou, Hufeng H; Gaynor, Sheila M SM; Liu, Yaowu Y; Chen, Han H; Sun, Ryan R; Dey, Rounak R; Arnett, Donna K DK; Aslibekyan, Stella S; Ballantyne, Christie M CM; Bielak, Lawrence F LF; Blangero, John J; Boerwinkle, Eric E; Bowden, Donald W DW; Broome, Jai G JG; Conomos, Matthew P MP; Correa, Adolfo A; Cupples, L Adrienne LA; Curran, Joanne E JE; Freedman, Barry I BI; Guo, Xiuqing X; Hindy, George G; Irvin, Marguerite R MR; Kardia, Sharon L R SLR; Kathiresan, Sekar S; Khan, Alyna T AT; Kooperberg, Charles L CL; Laurie, Cathy C CC; Liu, X Shirley XS; Mahaney, Michael C MC; Manichaikul, Ani W AW; Martin, Lisa W LW; Mathias, Rasika A RA; McGarvey, Stephen T ST; Mitchell, Braxton D BD; Montasser, May E ME; Moore, Jill E JE; Morrison, Alanna C AC; O'Connell, Jeffrey R JR; Palmer, Nicholette D ND; Pampana, Akhil A; Peralta, Juan M JM; Peyser, Patricia A PA; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Smith, Jennifer A JA; Tiwari, Hemant K HK; Tsai, Michael Y MY; Vasan, Ramachandran S RS; Wang, Fei Fei FF; Weeks, Daniel E DE; Weng, Zhiping Z; Wilson, James G JG; Yanek, Lisa R LR; , ; , ; Neale, Benjamin M BM; Sunyaev, Shamil R SR; Abecasis, Gonçalo R GR; Rotter, Jerome I JI; Willer, Cristen J CJ; Peloso, Gina M GM; Natarajan, Pradeep P; Lin, Xihong X
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
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: PCSK9: 1327G>A; Ala443Thr
Identifying individual risk rare variants using protein structure guided local tests (POINT).
Plos Computational Biology
Marceau West, Rachel R; Lu, Wenbin W; Rotroff, Daniel M DM; Kuenemann, Melaine A MA; Chang, Sheng-Mao SM; Wu, Michael C MC; Wagner, Michael J MJ; Buse, John B JB; Motsinger-Reif, Alison A AA; Fourches, Denis D; Tzeng, Jung-Ying JY
Publication Date: 2019-02
Variant appearance in text: PCSK9: A443T; rs28362263
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature Communications
North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ
Publication Date: 2018-05-14
Variant appearance in text: PCSK9: A443T; rs28362263
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: A443T; rs28362263
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: A443T; rs28362263
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
American Journal Of Human Genetics
Lange, Leslie A LA; Hu, Youna Y; Zhang, He H; Xue, Chenyi C; Schmidt, Ellen M EM; Tang, Zheng-Zheng ZZ; Bizon, Chris C; Lange, Ethan M EM; Smith, Joshua D JD; Turner, Emily H EH; Jun, Goo G; Kang, Hyun Min HM; Peloso, Gina G; Auer, Paul P; Li, Kuo-Ping KP; Flannick, Jason J; Zhang, Ji J; Fuchsberger, Christian C; Gaulton, Kyle K; Lindgren, Cecilia C; Locke, Adam A; Manning, Alisa A; Sim, Xueling X; Rivas, Manuel A MA; Holmen, Oddgeir L OL; Gottesman, Omri O; Lu, Yingchang Y; Ruderfer, Douglas D; Stahl, Eli A EA; Duan, Qing Q; Li, Yun Y; Durda, Peter P; Jiao, Shuo S; Isaacs, Aaron A; Hofman, Albert A; Bis, Joshua C JC; Correa, Adolfo A; Griswold, Michael E ME; Jakobsdottir, Johanna J; Smith, Albert V AV; Schreiner, Pamela J PJ; Feitosa, Mary F MF; Zhang, Qunyuan Q; Huffman, Jennifer E JE; Crosby, Jacy J; Wassel, Christina L CL; Do, Ron R; Franceschini, Nora N; Martin, Lisa W LW; Robinson, Jennifer G JG; Assimes, Themistocles L TL; Crosslin, David R DR; Rosenthal, Elisabeth A EA; Tsai, Michael M; Rieder, Mark J MJ; Farlow, Deborah N DN; Folsom, Aaron R AR; Lumley, Thomas T; Fox, Ervin R ER; Carlson, Christopher S CS; Peters, Ulrike U; Jackson, Rebecca D RD; van Duijn, Cornelia M CM; Uitterlinden, André G AG; Levy, Daniel D; Rotter, Jerome I JI; Taylor, Herman A HA; Gudnason, Vilmundur V; Siscovick, David S DS; Fornage, Myriam M; Borecki, Ingrid B IB; Hayward, Caroline C; Rudan, Igor I; Chen, Y Eugene YE; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Sætrom, Pål P; Hveem, Kristian K; Boehnke, Michael M; Groop, Leif L; McCarthy, Mark M; Meitinger, Thomas T; Ballantyne, Christie M CM; Gabriel, Stacey B SB; O'Donnell, Christopher J CJ; Post, Wendy S WS; North, Kari E KE; Reiner, Alexander P AP; Boerwinkle, Eric E; Psaty, Bruce M BM; Altshuler, David D; Kathiresan, Sekar S; Lin, Dan-Yu DY; Jarvik, Gail P GP; Cupples, L Adrienne LA; Kooperberg, Charles C; Wilson, James G JG; Nickerson, Deborah A DA; Abecasis, Goncalo R GR; Rich, Stephen S SS; Tracy, Russell P RP; Willer, Cristen J CJ; ,
Publication Date: 2014-02-06
Variant appearance in text: PCSK9: 1327G>A; Ala443Thr
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
American Journal Of Human Genetics
Coram, Marc A MA; Duan, Qing Q; Hoffmann, Thomas J TJ; Thornton, Timothy T; Knowles, Joshua W JW; Johnson, Nicholas A NA; Ochs-Balcom, Heather M HM; Donlon, Timothy A TA; Martin, Lisa W LW; Eaton, Charles B CB; Robinson, Jennifer G JG; Risch, Neil J NJ; Zhu, Xiaofeng X; Kooperberg, Charles C; Li, Yun Y; Reiner, Alex P AP; Tang, Hua H
Publication Date: 2013-06-06
Variant appearance in text: PCSK9: Ala443Thr; rs28362263
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
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: A443T; rs28362263
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: 1327G>A; A443T; rs28362263
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: A443T; rs28362263
Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.
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