Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: SCARB1: 1127C>T; Pro376Leu
High Density Lipoprotein Cholesterol Efflux Capacity and Atherosclerosis in Cardiovascular Disease: Pathophysiological Aspects and Pharmacological Perspectives.
Cells
Adorni, Maria Pia MP; Ronda, Nicoletta N; Bernini, Franco F; Zimetti, Francesca F
Impaired Delivery of Cholesterol Effluxed From Macrophages to Hepatocytes by Serum From CKD Patients May Underlie Increased Cardiovascular Disease Risk.
Kidney International Reports
Gipson, Graham T GT; Carbone, Salvatore S; Wang, Jing J; Dixon, Dave L DL; Jovin, Ion S IS; Carl, Daniel E DE; Gehr, Todd W TW; Ghosh, Shobha S
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: SCARB1: 1127C>T; Pro376Leu
The hepatic WASH complex is required for efficient plasma LDL and HDL cholesterol clearance.
Jci Insight
Wijers, Melinde M; Zanoni, Paolo P; Liv, Nalan N; Vos, Dyonne Y DY; Jäckstein, Michelle Y MY; Smit, Marieke M; Wilbrink, Sanne S; Wolters, Justina C JC; van der Veen, Ydwine T YT; Huijkman, Nicolette N; Dekker, Daphne D; Kloosterhuis, Niels N; van Dijk, Theo H TH; Billadeau, Daniel D DD; Kuipers, Folkert F; Klumperman, Judith J; von Eckardstein, Arnold A; Kuivenhoven, Jan Albert JA; van de Sluis, Bart B
Hepatocyte estrogen receptor alpha mediates estrogen action to promote reverse cholesterol transport during Western-type diet feeding.
Molecular Metabolism
Zhu, Lin L; Shi, Jeanne J; Luu, Thao N TN; Neuman, Joshua C JC; Trefts, Elijah E; Yu, Sophia S; Palmisano, Brian T BT; Wasserman, David H DH; Linton, MacRae F MF; Stafford, John M JM
Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.
Nature Genetics
Howson, Joanna M M JMM; Zhao, Wei W; Barnes, Daniel R DR; Ho, Weang-Kee WK; Young, Robin R; Paul, Dirk S DS; Waite, Lindsay L LL; Freitag, Daniel F DF; Fauman, Eric B EB; Salfati, Elias L EL; Sun, Benjamin B BB; Eicher, John D JD; Johnson, Andrew D AD; Sheu, Wayne H H WHH; Nielsen, Sune F SF; Lin, Wei-Yu WY; Surendran, Praveen P; Malarstig, Anders A; Wilk, Jemma B JB; Tybjærg-Hansen, Anne A; Rasmussen, Katrine L KL; Kamstrup, Pia R PR; Deloukas, Panos P; Erdmann, Jeanette J; Kathiresan, Sekar S; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; , ; Do, Ron R; Rader, Daniel J DJ; Johnson, Julie A JA; Hazen, Stanley L SL; Quyyumi, Arshed A AA; Spertus, John A JA; Pepine, Carl J CJ; Franceschini, Nora N; Justice, Anne A; Reiner, Alex P AP; Buyske, Steven S; Hindorff, Lucia A LA; Carty, Cara L CL; North, Kari E KE; Kooperberg, Charles C; Boerwinkle, Eric E; Young, Kristin K; Graff, Mariaelisa M; Peters, Ulrike U; Absher, Devin D; Hsiung, Chao A CA; Lee, Wen-Jane WJ; Taylor, Kent D KD; Chen, Ying-Hsiang YH; Lee, I-Te IT; Guo, Xiuqing X; Chung, Ren-Hua RH; Hung, Yi-Jen YJ; Rotter, Jerome I JI; Juang, Jyh-Ming J JJ; Quertermous, Thomas T; Wang, Tzung-Dau TD; Rasheed, Asif A; Frossard, Philippe P; Alam, Dewan S DS; Majumder, Abdulla Al Shafi AAS; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; , ; Chen, Yii-Der Ida YI; Nordestgaard, Børge G BG; Assimes, Themistocles L TL; Danesh, John J; Butterworth, Adam S AS; Saleheen, Danish D
Publication Date: 2017-07
Variant appearance in text: SCARB1: Pro376Leu; rs74830677
HDL cholesterol: reappraisal of its clinical relevance.
Clinical Research In Cardiology : Official Journal Of The German Cardiac Society
März, Winfried W; Kleber, Marcus E ME; Scharnagl, Hubert H; Speer, Timotheus T; Zewinger, Stephen S; Ritsch, Andreas A; Parhofer, Klaus G KG; von Eckardstein, Arnold A; Landmesser, Ulf U; Laufs, Ulrich U
Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.
Journal Of The American College Of Cardiology
Webb, Thomas R TR; Erdmann, Jeanette J; Stirrups, Kathleen E KE; Stitziel, Nathan O NO; Masca, Nicholas G D NG; Jansen, Henning H; Kanoni, Stavroula S; Nelson, Christopher P CP; Ferrario, Paola G PG; König, Inke R IR; Eicher, John D JD; Johnson, Andrew D AD; Hamby, Stephen E SE; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Schadt, Eric E EE; Björkegren, Johan L M JL; Weeke, Peter E PE; Auer, Paul L PL; Schick, Ursula M UM; Lu, Yingchang Y; Zhang, He H; Dube, Marie-Pierre MP; Goel, Anuj A; Farrall, Martin M; Peloso, Gina M GM; Won, Hong-Hee HH; Do, Ron R; van Iperen, Erik E; Kruppa, Jochen J; Mahajan, Anubha A; Scott, Robert A RA; Willenborg, Christina C; Braund, Peter S PS; van Capelleveen, Julian C JC; Doney, Alex S F AS; Donnelly, Louise A LA; Asselta, Rosanna R; Merlini, Pier A PA; Duga, Stefano S; Marziliano, Nicola N; Denny, Josh C JC; Shaffer, Christian C; El-Mokhtari, Nour Eddine NE; Franke, Andre A; Heilmann, Stefanie S; Hengstenberg, Christian C; Hoffmann, Per P; Holmen, Oddgeir L OL; Hveem, Kristian K; Jansson, Jan-Håkan JH; Jöckel, Karl-Heinz KH; Kessler, Thorsten T; Kriebel, Jennifer J; Laugwitz, Karl L KL; Marouli, Eirini E; Martinelli, Nicola N; McCarthy, Mark I MI; Van Zuydam, Natalie R NR; Meisinger, Christa C; Esko, Tõnu T; Mihailov, Evelin E; Escher, Stefan A SA; Alver, Maris M; Moebus, Susanne S; Morris, Andrew D AD; Virtamo, Jarma J; Nikpay, Majid M; Olivieri, Oliviero O; Provost, Sylvie S; AlQarawi, Alaa A; Robertson, Neil R NR; Akinsansya, Karen O KO; Reilly, Dermot F DF; Vogt, Thomas F TF; Yin, Wu W; Asselbergs, Folkert W FW; Kooperberg, Charles C; Jackson, Rebecca D RD; Stahl, Eli E; Müller-Nurasyid, Martina M; Strauch, Konstantin K; Varga, Tibor V TV; Waldenberger, Melanie M; , ; Zeng, Lingyao L; Chowdhury, Rajiv R; Salomaa, Veikko V; Ford, Ian I; Jukema, J Wouter JW; Amouyel, Philippe P; Kontto, Jukka J; , ; Nordestgaard, Børge G BG; Ferrières, Jean J; Saleheen, Danish D; Sattar, Naveed N; Surendran, Praveen P; Wagner, Aline A; Young, Robin R; Howson, Joanna M M JM; Butterworth, Adam S AS; Danesh, John J; Ardissino, Diego D; Bottinger, Erwin P EP; Erbel, Raimund R; Franks, Paul W PW; Girelli, Domenico D; Hall, Alistair S AS; Hovingh, G Kees GK; Kastrati, Adnan A; Lieb, Wolfgang W; Meitinger, Thomas T; Kraus, William E WE; Shah, Svati H SH; McPherson, Ruth R; Orho-Melander, Marju M; Melander, Olle O; Metspalu, Andres A; Palmer, Colin N A CN; Peters, Annette A; Rader, Daniel J DJ; Reilly, Muredach P MP; Loos, Ruth J F RJ; Reiner, Alex P AP; Roden, Dan M DM; Tardif, Jean-Claude JC; Thompson, John R JR; Wareham, Nicholas J NJ; Watkins, Hugh H; Willer, Cristen J CJ; Samani, Nilesh J NJ; Schunkert, Heribert H; Deloukas, Panos P; Kathiresan, Sekar S; ,
NMR Structure of the C-Terminal Transmembrane Domain of the HDL Receptor, SR-BI, and a Functionally Relevant Leucine Zipper Motif.
Structure (London, England : 1993)
Chadwick, Alexandra C AC; Jensen, Davin R DR; Hanson, Paul J PJ; Lange, Philip T PT; Proudfoot, Sarah C SC; Peterson, Francis C FC; Volkman, Brian F BF; Sahoo, Daisy D
Cholesterol Efflux Capacity and Subclasses of HDL Particles in Healthy Women Transitioning Through Menopause.
The Journal Of Clinical Endocrinology And Metabolism
El Khoudary, Samar R SR; Hutchins, Patrick M PM; Matthews, Karen A KA; Brooks, Maria M MM; Orchard, Trevor J TJ; Ronsein, Graziella E GE; Heinecke, Jay W JW
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.
Science (New York, N.Y.)
Zanoni, Paolo P; Khetarpal, Sumeet A SA; Larach, Daniel B DB; Hancock-Cerutti, William F WF; Millar, John S JS; Cuchel, Marina M; DerOhannessian, Stephanie S; Kontush, Anatol A; Surendran, Praveen P; Saleheen, Danish D; Trompet, Stella S; Jukema, J Wouter JW; De Craen, Anton A; Deloukas, Panos P; Sattar, Naveed N; Ford, Ian I; Packard, Chris C; Majumder, Abdullah al Shafi Aa; Alam, Dewan S DS; Di Angelantonio, Emanuele E; Abecasis, Goncalo G; Chowdhury, Rajiv R; Erdmann, Jeanette J; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Tybjærg-Hansen, Anne A; Schmidt, Ruth Frikke RF; Kuulasmaa, Kari K; Liu, Dajiang J DJ; Perola, Markus M; Blankenberg, Stefan S; Salomaa, Veikko V; Männistö, Satu S; Amouyel, Philippe P; Arveiler, Dominique D; Ferrieres, Jean J; Müller-Nurasyid, Martina M; Ferrario, Marco M; Kee, Frank F; Willer, Cristen J CJ; Samani, Nilesh N; Schunkert, Heribert H; Butterworth, Adam S AS; Howson, Joanna M M JM; Peloso, Gina M GM; Stitziel, Nathan O NO; Danesh, John J; Kathiresan, Sekar S; Rader, Daniel J DJ; , ; , ; ,
Publication Date: 2016-03-11
Variant appearance in text: SCARB1: 1127C>T; rs74830677
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: SCARB1: P376L; rs74830677
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Analysis of candidate genes for macular telangiectasia type 2.
Molecular Vision
Parmalee, Nancy L NL; Schubert, Carl C; Merriam, Joanna E JE; Allikmets, Kaija K; Bird, Alan C AC; Gillies, Mark C MC; Peto, Tunde T; Figueroa, Maria M; Friedlander, Martin M; Fruttiger, Marcus M; Greenwood, John J; Moss, Stephen E SE; Smith, Lois E H LE; Toomes, Carmel C; Inglehearn, Chris F CF; Allikmets, Rando R
Publication Date: 2010-12-14
Variant appearance in text: SCARB1: Pro376Leu; rs74830677