Výsledky vyhledávání - "genetics [Exome]"

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Autor: John Hardy, Nick C. Fox, Lena Lilius, Christine Van Broeckhoven, Mindy J. Katz, Carlos Cruchaga, Joshua W. Miller, Carol Brayne, Letizia Concari, Christopher Shaw, Minerva M. Carrasquillo, Richard Mayeux, Anne Boland, Charles DeCarli, Helena C. Chui, Laura B. Cantwell, Yoland Aladro Benito, Chuang Kuo Wu, Elaine R. Peskind, Andrew McDavid, M. Ilyas Kamboh, Amanda Smith, Pascual Sánchez-Juan, Jean-François Deleuze, Jayanadra J. Himali, Thomas H. Mosley, Thomas J. Montine, Chuanhai Cao, Andreas J. Forstner, Thomas G. Beach, Robert Barber, Miquel Aguilar, Liming Qu, Jerome I. Rotter, Matthew J. Huentelman, Christiane Reitz, Christopher J. O'Donnell, Steven G. Younkin, Bradley T. Hyman, Bruce L. Miller, Rachelle S. Doody, Eric B. Larson, Ronald L. Hamilton, Todd E. Golde, Steven E. Arnold, Melissa E. Garcia, Rachel Raybould, Lena Kilander, Mark A. Sager, Kevin Morgan, Kathryn L. Lunetta, William Perry, Joseph D. Buxbaum, Craig S. Atwood, Thomas D. Bird, Michael Conlon O'Donovan, Robert Olaso, Juan Fortea, Susanne Moebus, Lisa L. Barnes, Rachel Marshall, Huntington Potter, Mercè Boada, Shahzad Ahmad, Paolo Caffarra, Daniel C. Marson, Jonathan L. Haines, Perrie M. Adams, John M Olichney, Lars Lannfelt, Stefanie Heilmann-Heimbach, Markus M. Nöthen, Shubhabrata Mukherjee, John Malamon, Xue Wang, Christopher S. Carlson, Karen Ritchie, Roger N. Rosenberg, Paul K. Crane, Alexa S. Beiser, Céline Bellenguez, Robert C. Green, Maria Urbano, Petra Proitsi, John Powell, Elisa Majounie, Ammar Al-Chalabi, Hakon Hakonarson, Yogen Patel, Martin Scherer, Julie Williams, Richard B. Lipton, Vincent Dermecourt, Adam L. Boxer, Gerard D. Schellenberg, David G. Clark, Anita L. DeStefano, Joel H. Kramer, Victoria Alvarez, Nandini Badarinarayan, Oscar L. Lopez, Chris Corcoran, Ubaldo Bonuccelli, Donald R. Royall, James Bowen, Monica Diez Fairen, Tricia A. Thornton-Wells, Nilufer Ertekin-Taner, Florence Pasquier, Martin Ingelsson, Yi Zhao, John R. Gilbert, Valentina Escott-Price, Amanda B. Kuzma, Fabienne Garzia, Reinhard Heun, Otto Valladares, Andrew J. Saykin, Sara Ortega-Cubero, Liana G. Apostolova, Henry L. Paulson, John K Kauwe, Imelda Barber, Carolina Ceballos Diaz, Douglas Galasko, M. Arfan Ikram, Lluís Tárraga, Carlo Caltagirone, Joan S. Reisch, Wolfgang Maier, Bruno Vellas, Rebecca Sims, Angela Hodges, Matthew P. Frosch, Isabel Henández, Annakaisa Haapasalo, Thor Aspelund, Håkan Thonberg, Aimee Pierce, Roger L. Albin, Wayne W. Poon, Rebecca Sussams, Amy Braddel, Ranjan Duara, Albert V. Smith, Kirk C. Wilhelmsen, Gianfranco Spalletta, Simon Lovestone, Peter Passmore, Ana Frank-García, Cynthia M. Carlsson, Jade Chapman, Nathan D. Price, Philip L. De Jager, John M. Ringman, Seung Hoan Choi, Nicola Denning, Michael John Owen, Clinton T. Baldwin, Amalia C. Bruni, Denis A. Evans, Rudolph E. Tanzi, Dominique Campion, Laura Fratiglioni, Alberto Lleó, Per Hoffmann, Carole Dufouil, Charlotte Forsell, Alun Meggy, Charlene Thomas, Robert S. Stern, James B. Leverenz, Tatiana Foroud, William W. Seeley, James J. Lah, Brian A. Lawlor, Kenneth B. Fallon, Matthias Riemenschneider, Ryan M. Huebinger, Regina M. Carney, Clinton B. Wright, Didier Hannequin, Deborah Blacker, Anne Kinhult-Ståhlbom, Ekaterina Rogaeva, Andrew P. Lieberman, Bernardino Ghetti, Linda J. Van Eldik, Bernadette McGuinness, Thomas Fairchild, Margaret A. Pericak-Vance, Ashok Raj, Reinhold Schmidt, Ronald C. Petersen, Harald Hampel, María J. Bullido, Steven L. Carroll, Maria Candida Deniz Naranjo, Kathleen A. Welsh-Bohmer, Myriam Fornage, Joseph F. Quinn, Caroline Graff, Claudia L. Satizabal, Patrice L. Whitehead, David Wallon, Christopher Medway, Lindsay A. Farrer, Vilmundur Gudnason, Peter St George-Hyslop, Pau Pastor, Frank Jessen, Erin L. Abner, Johanna Jakobsdottir, Hieab H.H. Adams, Roberta Cecchetti, Walter A. Kukull, Thomas S. Wingo, Michelle K. Lupton, Valur Emilsson, Susan M. McCurry, Simon Mead, Hilkka Soininen, Sandra Weintraub, Amy Gerrish, Lindy E. Harrell, Lina Keller, Jean-Charles Lambert, Denise Harold, Stephen Todd, Wei Gu, Maura Gallo, Najaf Amin, Lenore J. Launer, Eleonora Sacchinelli, Mikko Hiltunen, Cécile Dulary, Eliecer Coto, Xueqiu Jian, Nathalie Fievet, Patrizia Mecocci, Sarah Taylor, Eric Boerwinkle, Maria Serpente, Ronald G. Munger, Ina Giegling, Carlo Masullo, Aoibhinn Lynch, Eliezer Masliah, Anne M. Koivisto, Chang En Yu, Qiong Yang, Benedetta Nacmias, Wayne C. McCormick, Kristelle Brown, Alessio Squassina, Deborah C. Mash, Brian W. Kunkle, Makrina Daniilidou, Alison Goate, David Carrell, Kara L. Hamilton-Nelson, Sandra Barral, Vincent Chouraki, Kristel Sleegers, Frank J. Wolters, Joseph E. Parisi, Iwona Kłoszewska, Ronald C. Kim, Sonia Moreno-Grau, Marina Arcaro, Carmen Muñoz Fernadez, Vernon S. Pankratz, Duane Beekly, Sabrina Pichler, Gislain Septier, Delphine Bacq, Amanda J. Myers, Adam C. Naj, Frank Martiniuk, Sudha Seshadri, Badri N. Vardarajan, Joshua A. Sonnen, M.-Marsel Mesulam, Howard J. Rosen, James T. Becker, Chiara Fenoglio, Ge Li, Alberto Pilotto, Mary Sano, Olivier Hanon, Honghuang Lin, Jean Paul G. Vonsattel, W. T. Longstreth, Daniela Galimberti, David C. Rubinsztein, RoseMarie Brundin, Vilmantas Giedraitis, Christine M. Hulette, Peter Holmans, Martin Dichgans, Maria Vronskaya, Céline Derbois, Michelangelo Mancuso, Constantine G. Lyketsos, Christophe Tzourio, Jacques Epelbaum, Raffaele Maletta, Mariet Allen, Hong-Dong Li, James R. Burke, Rik Vandenberghe, David G. Mann, Bruce M. Psaty, Lawrence S. Honig, Beth A. Dombroski, Erik D. Roberson, Cornelia M. van Duijn, Benjamin Grenier-Boley, Seppo Helisalmi, Jean-François Dartigues, Russell H. Swerdlow, Paola Bossù, Ashley R. Winslow, Elio Scarpini, Lesley Jones, Sebastien Engelborghs, John Q. Trojanowski, Jeffrey Kaye, Jenny Lord, Chiara Cupidi, Janet A. Johnston, Dan Rujescu, Feroze Golamaully, Anne Braae, Rafael Blesa, L. Adrienne Cupples, Dennis W. Dickson, Gail P. Jarvik, David W. Fardo, David H. Cribbs, Michael Gill, Jose Bras, Allan I. Levey, Jennifer Williamson, Rhodri Thomas, John C. Morris, Lei Yu, Debby W. Tsuang, Annette M. Hartmann, John H. Growdon, John Collinge, Claudine Berr, Fernando Rivadeneira, Oliver Peters, Albert Hofman, Frank M. LaFerla, Vivianna M. Van Deerlin, James Uphill, David A. Bennett, Onofre Combarros, Gudny Eiriksdottir, Jeremy D. Burgess, Melanie L. Dunstan, Elizabeth Crocco, Keeley J. Brookes, Robert R. Graham, Lon S. Schneider, Eden R. Martin, Matt Hill, Neill R. Graff-Radford, Joseph T. Hughes, Vincenzo Solfrizzi, Taniesha Morgan, Antonio Ciaramella, Bruno Dubois, Juan C. Troncoso, Paolo Bosco, Jordi Clarimón, Daniel H. Geschwind, Virginia Boccardi, Barry Reisberg, Timothy W. Behrens, Annette L. Fitzpatrick, Salvatore Spina, Alexis Brice, Eileen H. Bigio, Marla Gearing, Jeffrey M. Burns, Carol A. Miller, Marilyn S. Albert, Sven J. van der Lee, Sandro Sorbi, C. Dirk Keene, Daniel Levy, Antonio Daniele, Eric M. Reiman, Paramita Chakrabarty, Oscar Sotolongo-Grau, Helena Schmidt, Francesco Panza, Murray A. Raskind, Rita Guerreiro, Gyungah Jun, Anna Karydas, Markus Leber, Harry V. Vinters, Cory C. Funk, Charles C. White, Jill R. Murrell, Sid E. O'Bryant, Nigel J. Cairns, Josée Dupuis, Ann C. McKee, Julie A. Schneider, Megan L. Grove, Malcolm B. Dick, Bradley F. Boeve, Jennifer A. Brody, Sanjay Asthana, Agustín Ruiz, Stefan Herms, Yuning Chen, David Craig, Neil W. Kowall, Maria Donata Orfei, JoAnn T. Tschanz, Florentino Sanchez Garcia, Manuel Mayhaus, Alfredo Ramirez, James Turton, André G. Uitterlinden, Davide Seripa, Lee-Way Jin, Kelley Faber, Maria C. Norton, Shuo Li, Steven H. Ferris, Steffi G. Riedel-Heller, Joshua C. Bis, Li-San Wang, Johannes Kornhuber, Peter Paul De Deyn, Martin R. Farlow, Randall L. Woltjer, Gary W. Beecham

Publikováno v: Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Nature Genetics, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Sims, R, Van Der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Squassina, A, Thomas, R, Brody, J A, Qu, L, Sánchez-Juan, P, Morgan, T, Wolters, F J, Zhao, Y, Garcia, F S, Denning, N, Fornage, M, Malamon, J, Naranjo, M C D, Majounie, E, Mosley, T H, Dombroski, B, Wallon, D, Lupton, M K, Dupuis, J, Whitehead, P, Fratiglioni, L, Medway, C, Jian, X, Mukherjee, S, Keller, L, Brown, K, Lin, H, Cantwell, L B, Panza, F, McGuinness, B, Moreno-Grau, S, Burgess, J D, Solfrizzi, V, Proitsi, P, Adams, H H, Allen, M, Seripa, D, Pastor, P, Cupples, L A, Price, N D, Hannequin, D, Frank-García, A, Levy, D, Chakrabarty, P, Caffarra, P, Giegling, I, Beiser, A S, Giedraitis, V, Hampel, H, Garcia, M E, Wang, X, Lannfelt, L, Mecocci, P, Eiriksdottir, G, Crane, P K, Pasquier, F, Boccardi, V, Henández, I, Barber, R C, Scherer, M, Tarraga, L, Adams, P M, Leber, M, Chen, Y, Albert, M S, Riedel-Heller, S, Emilsson, V, Beekly, D, Braae, A, Schmidt, R, Blacker, D, Masullo, C, Schmidt, H, Doody, R S, Spalletta, G, Jr, W T L, Fairchild, T J, Bossù, P, Lopez, O L, Frosch, M P, Sacchinelli, E, Ghetti, B, Yang, Q, Huebinger, R M, Jessen, F, Li, S, Kamboh, M I, Morris, J C, Sotolongo-Grau, O, Katz, M J, Corcoran, C, Dunstan, M, Braddel, A, Thomas, C, Meggy, A, Marshall, R, Gerrish, A, Chapman, J, Aguilar, M, Taylor, S, Hill, M, Fairén, M D, Hodges, A, Vellas, B, Soininen, H, Kloszewska, I, Daniilidou, M, Uphill, J, Patel, Y, Hughes, J T, Lord, J, Turton, J, Hartmann, A M, Cecchetti, R, Fenoglio, C, Serpente, M, Arcaro, M, Caltagirone, C, Orfei, M D, Ciaramella, A, Pichler, S, Mayhaus, M, Gu, W, Lleó, A, Fortea, J, Blesa, R, Barber, I S, Brookes, K, Cupidi, C, Maletta, R G, Carrell, D, Sorbi, S, Moebus, S, Urbano, M, Pilotto, A, Kornhuber, J, Bosco, P, Todd, S, Craig, D, Johnston, J, Gill, M, Lawlor, B, Lynch, A, Fox, N C, Hardy, J, Albin, R L, Apostolova, L G, Arnold, S E, Asthana, S, Atwood, C S, Baldwin, C T, Barnes, L L, Barral, S, Beach, T G, Becker, J T, Bigio, E H, Bird, T D, Boeve, B F, Bowen, J D, Boxer, A, Burke, J R, Burns, J M, Buxbaum, J D, Cairns, N J, Cao, C, Carlson, C S, Carlsson, C M, Carney, R M, Carrasquillo, M M, Carroll, S L, Diaz, C C, Chui, H C, Clark, D G, Cribbs, D H, Crocco, E A, Decarli, C, Dick, M, Duara, R, Evans, D A, Faber, K M, Fallon, K B, Fardo, D W, Farlow, M R, Ferris, S, Foroud, T M, Galasko, D R, Gearing, M, Geschwind, D H, Gilbert, J R, Graff-Radford, N R, Green, R C, Growdon, J H, Hamilton, R L, Harrell, L E, Honig, L S, Huentelman, M J, Hulette, C M, Hyman, B T, Jarvik, G P, Abner, E, Jin, L W, Jun, G, Karydas, A, Kaye, J A, Kim, R, Kowall, N W, Kramer, J H, Laferla, F M, Lah, J J, Leverenz, J B, Levey, A I, Li, G, Lieberman, A P, Lunetta, K L, Lyketsos, C G, Marson, D C, Martiniuk, F, Mash, D C, Masliah, E, McCormick, W C, McCurry, S M, McDavid, A N, McKee, A C, Mesulam, M, Miller, B L, Miller, C A, Miller, J W, Morris, J C, Murrell, J R, Myers, A J, O'Bryant, S, Olichney, J M, Pankratz, V S, Parisi, J E, Paulson, H L, Perry, W, Peskind, E, Pierce, A, Poon, W W, Potter, H, Quinn, J F, Raj, A, Raskind, M, Reisberg, B, Reitz, C, Ringman, J M, Roberson, E D, Rogaeva, E, Rosen, H J, Rosenberg, R N, Sager, M A, Saykin, A J, Schneider, J A, Schneider, L S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tanzi, R E, Thornton-Wells, T A, Trojanowski, J Q, Troncoso, J C, Van Deerlin, V M, Van Eldik, L J, Vinters, H V, Vonsattel, J P, Weintraub, S, Welsh-Bohmer, K A, Wilhelmsen, K C, Williamson, J, Wingo, T S, Woltjer, R L, Wright, C B, Yu, C E, Yu, L, Garzia, F, Golamaully, F, Septier, G, Engelborghs, S, Vandenberghe, R, De Deyn, P P, Fernadez, C M, Benito, Y A, Thonberg, H, Forsell, C, Lilius, L, Kinhult-Stählbom, A, Kilander, L, Brundin, R, Concari, L, Helisalmi, S, Koivisto, A M, Haapasalo, A, Dermecourt, V, Fievet, N, Hanon, O, Dufouil, C, Brice, A, Ritchie, K, Dubois, B, Himali, J J, Keene, C D, Tschanz, J, Fitzpatrick, A L, Kukull, W A, Norton, M, Aspelund, T, Larson, E B, Munger, R, Rotter, J I, Lipton, R B, Bullido, M J, Hofman, A, Montine, T J, Coto, E, Boerwinkle, E, Petersen, R C, Alvarez, V, Rivadeneira, F, Reiman, E M, Gallo, M, O'Donnell, C J, Reisch, J S, Bruni, A C, Royall, D R, Dichgans, M, Sano, M, Galimberti, D, St George-Hyslop, P, Scarpini, E, Tsuang, D W, Mancuso, M, Bonuccelli, U, Winslow, A R, Daniele, A, Wu, C K, Peters, O, Nacmias, B, Riemenschneider, M, Heun, R, Brayne, C, Rubinsztein, D C, Bras, J, Guerreiro, R, Al-Chalabi, A, Shaw, C E, Collinge, J, Mann, D, Tsolaki, M, Clarimón, J, Sussams, R, Lovestone, S, O'Donovan, M C, Owen, M J, Behrens, T W, Mead, S, Goate, A M, Uitterlinden, A G, Holmes, C, Cruchaga, C, Ingelsson, M, Bennett, D A, Powell, J, Golde, T E, Graff, C, De Jager, P L, Morgan, K, Ertekin-Taner, N, Combarros, O, Psaty, B M, Passmore, P, Younkin, S G, Berr, C, Gudnason, V, Rujescu, D, Dickson, D W, Dartigues, J F, Destefano, A L, Ortega-Cubero, S, Hakonarson, H, Campion, D, Boada, M, Kauwe, J K, Farrer, L A, Van Broeckhoven, C, Ikram, M A, Jones, L, Haines, J L, Tzourio, C, Launer, L J, Escott-Price, V, Mayeux, R, Deleuze, J F, Amin, N, Holmans, P A, Pericak-Vance, M A, Amouyel, P, Van Duijn, C M, Ramirez, A, Wang, L S, Lambert, J C, Seshadri, S, Williams, J & Schellenberg, G D 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, no. 9, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature Genetics, 49(9), 1373-+. Nature Publishing Group
Nature genetics 49(9), 1373-1384 (2017). doi:10.1038/ng.3916
Sims, R, van der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S-H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Lupton, M K, Proitsi, P, Hodges, A, Patel, Y, Al-Chalabi, A, Shaw, C E, Powell, J 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature genetics
Nature Genetics, 49(9), 1373-1384. Nature Publishing Group
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested assoc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68acea78f51bbfc0ec6d3ecba99842de
https://www.hal.inserm.fr/inserm-02466466/file/ng.3916.pdf

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání