Výsledky vyhledávání - "Gille Johan J"

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Autor: Holstege, Henne, Hulsman, Marc, Charbonnier, Camille, Grenier-Boley, Benjamin, Quenez, Olivier, Grozeva, Detelina, van Rooij, Jeroen G. J., Sims, Rebecca, Ahmad, Shahzad, Amin, Najaf, Norsworthy, Penny J., Dols Icardo, Oriol, Hummerich, Holger, Kawalia, Amit, Amouyel, Philippe, Beecham, Gary W., Berr, Claudine, Bis, Joshua C., Boland, Anne, Bossù, Paola, Bouwman, Femke, Bras, Jose, Campion, Dominique, Cochran, J. Nicholas, Daniele, Antonio, Dartigues, Jean-François, Debette, Stéphanie, Deleuze, Jean-François, Denning, Nicola, DeStefano, Anita L., Farrer, Lindsay A., Fernández, Maria Victoria, Fox, Nick C., Galimberti, Daniela, Genin, Emmanuelle, Gille, Johan J. P., Le Guen, Yann, Guerreiro, Rita, Haines, Jonathan L., Holmes, Clive, Ikram, M. Arfan, Ikram, M. Kamran, Jansen, Iris E., Kraaij, Robert, Lathrop, Marc, Lemstra, Afina W., Lleó, Alberto, Luckcuck, Lauren, Mannens, Marcel M. A. M., Marshall, Rachel, Martin, Eden R., Masullo, Carlo, Mayeux, Richard, Mecocci, Patrizia, Meggy, Alun, Mol, Merel O., Morgan, Kevin, Myers, Richard M., Nacmias, Benedetta, Naj, Adam C., Napolioni, Valerio, Pasquier, Florence, Pastor, Pau, Pericak-Vance, Margaret A., Raybould, Rachel, Redon, Richard, Reinders, Marcel J. T., Richard, Anne-Claire, Riedel-Heller, Steffi G., Rivadeneira, Fernando, Rousseau, Stéphane, Ryan, Natalie S., Saad, Salha, Sánchez-Juan, Pascual, Schellenberg, Gerard D., Scheltens, Philip, Schott, Jonathan M., Seripa, Davide, Seshadri, Sudha, Sie, Daoud, Sistermans, Erik A., Sorbi, Sandro, van Spaendonk, Resie, Spalletta, Gianfranco, Tesi, Niccolo, Tijms, Betty, Uitterlinden, André G., van der Lee, Sven J., Visser, Pieter Jelle, Wagner, Michael, Wallon, David, Wang, Li-San, Zarea, Aline, Clarimón, Jordi, van Swieten, John C., Greicius, Michael D., Yokoyama, Jennifer S., Cruchaga, Carlos, Hardy, John, Ramirez, Alfredo, Mead, Simon, van der Flier, Wiesje M., van Duijn, Cornelia M., Williams, Julie, Nicolas, Gaël, Bellenguez, Céline, Lambert, Jean-Charles, Universitat Autònoma de Barcelona

Publikováno v: Nature genetics 54(12), 1786-1794 (2022). doi:10.1038/s41588-022-01208-7
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C L & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature Genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12), 1786-1794. Nature Publishing Group
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, J G J, Sims, R, Ahmad, S, Amin, N, Norsworthy, P J, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, G W, Berr, C, Bis, J C, Boland, A, Bossù, P, Bouwman, F, Bras, J, Campion, D, Cochran, J N, Daniele, A, Dartigues, J-F, Debette, S, Deleuze, J-F, Denning, N, DeStefano, A L, Farrer, L A, Fernández, M V, Fox, N C, Galimberti, D, Genin, E, Gille, J J P, Le Guen, Y, Guerreiro, R, Haines, J L, Holmes, C, Ikram, M A, Ikram, M K, Jansen, I E, Kraaij, R, Lathrop, M, Lemstra, A W, Lleó, A, Luckcuck, L, Mannens, M M A M, Marshall, R, Martin, E R, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, M O, Morgan, K, Myers, R M, Nacmias, B, Naj, A C, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, M A, Raybould, R, Redon, R, Reinders, M J T, Richard, A-C, Riedel-Heller, S G, Rivadeneira, F, Rousseau, S, Ryan, N S, Saad, S, Sanchez-Juan, P, Schellenberg, G D, Scheltens, P, Schott, J M, Seripa, D, Seshadri, S, Sie, D, Sistermans, E A, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, A G, van der Lee, S J, Visser, P J, Wagner, M, Wallon, D, Wang, L-S, Zarea, A, Clarimon, J, van Swieten, J C, Greicius, M D, Yokoyama, J S, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, W M, van Duijn, C M, Williams, J, Nicolas, G, Bellenguez, C & Lambert, J-C 2022, ' Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease ', Nature genetics, vol. 54, no. 12, pp. 1786-1794 . https://doi.org/10.1038/s41588-022-01208-7
Nature Genetics, 54(12)
Nature genetics, 54(12), 1786-1794. Nature Publishing Group
Nature Genetics

Alzheimer’s disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70%1. The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8325efba8ab54ed6feea00680fa63681
https://doi.org/10.1038/s41588-022-01208-7

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