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: HMGCR: 2458-84C>T; rs3846663
Genetic drug target validation using Mendelian randomisation.
Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Leveraging Human Genetics to Identify Safety Signals Prior to Drug Marketing Approval and Clinical Use.
Drug Safety
Jerome, Rebecca N RN; Joly, Meghan Morrison MM; Kennedy, Nan N; Shirey-Rice, Jana K JK; Roden, Dan M DM; Bernard, Gordon R GR; Holroyd, Kenneth J KJ; Denny, Joshua C JC; Pulley, Jill M JM
Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.
Jama
Yarmolinsky, James J; Bull, Caroline J CJ; Vincent, Emma E EE; Robinson, Jamie J; Walther, Axel A; Smith, George Davey GD; Lewis, Sarah J SJ; Relton, Caroline L CL; Martin, Richard M RM
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Harnessing publicly available genetic data to prioritize lipid modifying therapeutic targets for prevention of coronary heart disease based on dysglycemic risk.
Human Genetics
Tragante, Vinicius V; Asselbergs, Folkert W FW; Swerdlow, Daniel I DI; Palmer, Tom M TM; Moore, Jason H JH; de Bakker, Paul I W PIW; Keating, Brendan J BJ; Holmes, Michael V MV
Genetic Contribution of Variants near SORT1 and APOE on LDL Cholesterol Independent of Obesity in Children.
Plos One
Breitling, Clara C; Gross, Arnd A; Büttner, Petra P; Weise, Sebastian S; Schleinitz, Dorit D; Kiess, Wieland W; Scholz, Markus M; Kovacs, Peter P; Körner, Antje A
Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes.
Circulation
Yao, Chen C; Chen, Brian H BH; Joehanes, Roby R; Otlu, Burcak B; Zhang, Xiaoling X; Liu, Chunyu C; Huan, Tianxiao T; Tastan, Oznur O; Cupples, L Adrienne LA; Meigs, James B JB; Fox, Caroline S CS; Freedman, Jane E JE; Courchesne, Paul P; O'Donnell, Christopher J CJ; Munson, Peter J PJ; Keles, Sunduz S; Levy, Daniel D
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.
Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.
Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
Lancet (London, England)
Voight, Benjamin F BF; Peloso, Gina M GM; Orho-Melander, Marju M; Frikke-Schmidt, Ruth R; Barbalic, Maja M; Jensen, Majken K MK; Hindy, George G; Hólm, Hilma H; Ding, Eric L EL; Johnson, Toby T; Schunkert, Heribert H; Samani, Nilesh J NJ; Clarke, Robert R; Hopewell, Jemma C JC; Thompson, John F JF; Li, Mingyao M; Thorleifsson, Gudmar G; Newton-Cheh, Christopher C; Musunuru, Kiran K; Pirruccello, James P JP; Saleheen, Danish D; Chen, Li L; Stewart, Alexandre F R A; Schillert, Arne A; Thorsteinsdottir, Unnur U; Thorgeirsson, Gudmundur G; Anand, Sonia S; Engert, James C JC; Morgan, Thomas T; Spertus, John J; Stoll, Monika M; Berger, Klaus K; Martinelli, Nicola N; Girelli, Domenico D; McKeown, Pascal P PP; Patterson, Christopher C CC; Epstein, Stephen E SE; Devaney, Joseph J; Burnett, Mary-Susan MS; Mooser, Vincent V; Ripatti, Samuli S; Surakka, Ida I; Nieminen, Markku S MS; Sinisalo, Juha J; Lokki, Marja-Liisa ML; Perola, Markus M; Havulinna, Aki A; de Faire, Ulf U; Gigante, Bruna B; Ingelsson, Erik E; Zeller, Tanja T; Wild, Philipp P; de Bakker, Paul I W PI; Klungel, Olaf H OH; Maitland-van der Zee, Anke-Hilse AH; Peters, Bas J M BJ; de Boer, Anthonius A; Grobbee, Diederick E DE; Kamphuisen, Pieter W PW; Deneer, Vera H M VH; Elbers, Clara C CC; Onland-Moret, N Charlotte NC; Hofker, Marten H MH; Wijmenga, Cisca C; Verschuren, W M Monique WM; Boer, Jolanda M A JM; van der Schouw, Yvonne T YT; Rasheed, Asif A; Frossard, Philippe P; Demissie, Serkalem S; Willer, Cristen C; Do, Ron R; Ordovas, Jose M JM; Abecasis, Gonçalo R GR; Boehnke, Michael M; Mohlke, Karen L KL; Daly, Mark J MJ; Guiducci, Candace C; Burtt, Noël P NP; Surti, Aarti A; Gonzalez, Elena E; Purcell, Shaun S; Gabriel, Stacey S; Marrugat, Jaume J; Peden, John J; Erdmann, Jeanette J; Diemert, Patrick P; Willenborg, Christina C; König, Inke R IR; Fischer, Marcus M; Hengstenberg, Christian C; Ziegler, Andreas A; Buysschaert, Ian I; Lambrechts, Diether D; Van de Werf, Frans F; Fox, Keith A KA; El Mokhtari, Nour Eddine NE; Rubin, Diana D; Schrezenmeir, Jürgen J; Schreiber, Stefan S; Schäfer, Arne A; Danesh, John J; Blankenberg, Stefan S; Roberts, Robert R; McPherson, Ruth R; Watkins, Hugh H; Hall, Alistair S AS; Overvad, Kim K; Rimm, Eric E; Boerwinkle, Eric E; Tybjaerg-Hansen, Anne A; Cupples, L Adrienne LA; Reilly, Muredach P MP; Melander, Olle O; Mannucci, Pier M PM; Ardissino, Diego D; Siscovick, David D; Elosua, Roberto R; Stefansson, Kari K; O'Donnell, Christopher J CJ; Salomaa, Veikko V; Rader, Daniel J DJ; Peltonen, Leena L; Schwartz, Stephen M SM; Altshuler, David D; Kathiresan, Sekar S
Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.
Human Molecular Genetics
Kenny, Eimear E EE; Kim, Minseung M; Gusev, Alexander A; Lowe, Jennifer K JK; Salit, Jacqueline J; Smith, J Gustav JG; Kovvali, Sirisha S; Kang, Hyun Min HM; Newton-Cheh, Christopher C; Daly, Mark J MJ; Stoffel, Markus M; Altshuler, David M DM; Friedman, Jeffrey M JM; Eskin, Eleazar E; Breslow, Jan L JL; Pe'er, Itsik I
Association of common DNA sequence variants at 33 genetic loci with blood lipids in individuals of African ancestry from Jamaica.
Human Genetics
Gupta, R R; Ejebe, K K; Butler, J J; Lettre, G G; Lyon, H H; Guiducci, C C; Wilks, R R; Bennett, F F; Forrester, T T; Tayo, B B; Musunuru, K K; Hirschhorn, J J; Kathiresan, S S; Cooper, R S RS; McKenzie, C A CA
Biological, clinical and population relevance of 95 loci for blood lipids.
Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S
Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
Lipids In Health And Disease
Ronald, James J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane E JE; Marshall, Julieann K JK; Hatsukami, Thomas S TS; Heagerty, Patrick J PJ; Jarvik, Gail P GP
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Plos Genetics
Lowe, Jennifer K JK; Maller, Julian B JB; Pe'er, Itsik I; Neale, Benjamin M BM; Salit, Jacqueline J; Kenny, Eimear E EE; Shea, Jessica L JL; Burkhardt, Ralph R; Smith, J Gustav JG; Ji, Weizhen W; Noel, Martha M; Foo, Jia Nee JN; Blundell, Maude L ML; Skilling, Vita V; Garcia, Laura L; Sullivan, Marcia L ML; Lee, Heather E HE; Labek, Anna A; Ferdowsian, Hope H; Auerbach, Steven B SB; Lifton, Richard P RP; Newton-Cheh, Christopher C; Breslow, Jan L JL; Stoffel, Markus M; Daly, Mark J MJ; Altshuler, David M DM; Friedman, Jeffrey M JM
Common variants at 30 loci contribute to polygenic dyslipidemia.
Nature Genetics
Kathiresan, Sekar S; Willer, Cristen J CJ; Peloso, Gina M GM; Demissie, Serkalem S; Musunuru, Kiran K; Schadt, Eric E EE; Kaplan, Lee L; Bennett, Derrick D; Li, Yun Y; Tanaka, Toshiko T; Voight, Benjamin F BF; Bonnycastle, Lori L LL; Jackson, Anne U AU; Crawford, Gabriel G; Surti, Aarti A; Guiducci, Candace C; Burtt, Noel P NP; Parish, Sarah S; Clarke, Robert R; Zelenika, Diana D; Kubalanza, Kari A KA; Morken, Mario A MA; Scott, Laura J LJ; Stringham, Heather M HM; Galan, Pilar P; Swift, Amy J AJ; Kuusisto, Johanna J; Bergman, Richard N RN; Sundvall, Jouko J; Laakso, Markku M; Ferrucci, Luigi L; Scheet, Paul P; Sanna, Serena S; Uda, Manuela M; Yang, Qiong Q; Lunetta, Kathryn L KL; Dupuis, Josée J; de Bakker, Paul I W PI; O'Donnell, Christopher J CJ; Chambers, John C JC; Kooner, Jaspal S JS; Hercberg, Serge S; Meneton, Pierre P; Lakatta, Edward G EG; Scuteri, Angelo A; Schlessinger, David D; Tuomilehto, Jaakko J; Collins, Francis S FS; Groop, Leif L; Altshuler, David D; Collins, Rory R; Lathrop, G Mark GM; Melander, Olle O; Salomaa, Veikko V; Peltonen, Leena L; Orho-Melander, Marju M; Ordovas, Jose M JM; Boehnke, Michael M; Abecasis, Gonçalo R GR; Mohlke, Karen L KL; Cupples, L Adrienne LA
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
Arteriosclerosis, Thrombosis, And Vascular Biology
Burkhardt, Ralph R; Kenny, Eimear E EE; Lowe, Jennifer K JK; Birkeland, Andrew A; Josowitz, Rebecca R; Noel, Martha M; Salit, Jacqueline J; Maller, Julian B JB; Pe'er, Itsik I; Daly, Mark J MJ; Altshuler, David D; Stoffel, Markus M; Friedman, Jeffrey M JM; Breslow, Jan L JL