日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease

整合应激反应特征驱动GBA1和LRRK2相关帕金森病中的单核细胞功能障碍

Mattei, Daniele; Brophy, Erica; Rosen, Mikaela; Majos, Oriol Narcis; Domingo, Aloysius; Meijia, Elena; De Sanctis, Claudia; Jang, Beomjin; Khashan, Tarek; Yang, Mengxi; Raymond, Deborah; Young, Casey; Humphrey, Jack; Navarro, Elisa; Allan, Amanda; Leaver, Katherine; Katsnelson, Viktoriya; Chung, Alexander; Muller, Benjamin; Swan, Matthew; Shanker, Vicki L; Pullman, Mariel; Wise, Adina Wise Adina; Ortega, Roberto; Astudillo, Kelly; Frucht, Steven; Bressman, Susan; Riboldi, Giulietta; Ozelius, Laurie J; Saunders-Pullman, Rachel; Raj, Towfique

Cross-disease genetic and epigenetic architecture of the MOBP locus shows convergence in ALS-PSP

MOBP基因座的跨疾病遗传和表观遗传结构在ALS-PSP中表现出趋同性。

Fodder, Katherine; Murthy, Megha; de Silva, Rohan; Raj, Towfique; Farrell, Kurt; Humphrey, Jack; Bettencourt, Conceição

Fine-mapping genomic loci refines bipolar disorder risk genes

精细定位基因组位点可进一步明确双相情感障碍风险基因

Koromina, Maria; Ravi, Ashvin; Panagiotaropoulou, Georgia; Schilder, Brian M; Humphrey, Jack; Braun, Alice; Bigdeli, Tim; Chatzinakos, Chris; Coombes, Brandon J; Kim, Jaeyoung; Liu, Xiaoxi; Terao, Chikashi; O'Connell, Kevin S; Adams, Mark J; Adolfsson, Rolf; Alda, Martin; Alfredsson, Lars; Andlauer, Till F M; Andreassen, Ole A; Antoniou, Anastasia; Baune, Bernhard T; Bengesser, Susanne; Biernacka, Joanna; Boehnke, Michael; Bosch, Rosa; Cairns, Murray J; Carr, Vaughan J; Casas, Miquel; Catts, Stanley; Cichon, Sven; Corvin, Aiden; Craddock, Nicholas; Dafnas, Konstantinos; Dalkner, Nina; Dannlowski, Udo; Degenhardt, Franziska; Di Florio, Arianna; Dikeos, Dimitris; Fellendorf, Frederike Tabea; Ferentinos, Panagiotis; Forstner, Andreas J; Forty, Liz; Frye, Mark; Fullerton, Janice M; Gawlik, Micha; Gizer, Ian R; Gordon-Smith, Katherine; Green, Melissa J; Grigoroiu-Serbanescu, Maria; Guzman-Parra, José; Hahn, Tim; Henskens, Frans; Hillert, Jan; Jablensky, Assen V; Jones, Lisa; Jones, Ian; Jonsson, Lina; Kelsoe, John R; Kircher, Tilo; Kirov, George; Kittel-Schneider, Sarah; Kogevinas, Manolis; Landén, Mikael; Leboyer, Marion; Lenger, Melanie; Lissowska, Jolanta; Lochner, Christine; Loughland, Carmel; MacIntyre, Donald J; Martin, Nicholas G; Maratou, Eirini; Mathews, Carol A; Mayoral, Fermin; McElroy, Susan L; McGregor, Nathaniel W; McIntosh, Andrew; McQuillin, Andrew; Michie, Patricia; Mitchell, Philip B; Moutsatsou, Paraskevi; Mowry, Bryan; Müller-Myhsok, Bertram; Myers, Richard M; Nenadić, Igor; Nievergelt, Caroline M; Nöthen, Markus M; Nurnberger, John; 'Donovan, Michael O; 'Donovan, Claire O; Ophoff, Roel A; Owen, Michael J; Pantelis, Christos; Pato, Carlos; Pato, Michele T; Patrinos, George P; Pawlak, Joanna M; Perlis, Roy H; Porichi, Evgenia; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Reif, Andreas; Reininghaus, Eva Z; Ribasés, Marta; Rietschel, Marcella; Schall, Ulrich; Schofield, Peter R; Schulze, Thomas G; Scott, Laura; Scott, Rodney J; Serretti, Alessandro; Smoller, Jordan W; Świątkowska, Beata; Soler Artigas, Maria; Stein, Dan J; Streit, Fabian; Toma, Claudio; Tooney, Paul; Vawter, Marquis P; Vieta, Eduard; Vincent, John B; Waldman, Irwin D; Weickert, Cynthia Shannon; Weickert, Thomas; Witt, Stephanie H; Hong, Kyung Sue; Ikeda, Masashi; Iwata, Nakao; Won, Hong-Hee; Edenberg, Howard J; Ripke, Stephan; Raj, Towfique; Coleman, Jonathan R I; Mullins, Niamh

Author Correction: Fine-mapping genomic loci refines bipolar disorder risk genes

作者更正:精细定位基因组位点可细化双相情感障碍风险基因

Koromina, Maria; Ravi, Ashvin; Panagiotaropoulou, Georgia; Schilder, Brian M; Humphrey, Jack; Braun, Alice; Bigdeli, Tim; Chatzinakos, Chris; Coombes, Brandon J; Kim, Jaeyoung; Liu, Xiaoxi; Terao, Chikashi; O'Connell, Kevin S; Adams, Mark J; Adolfsson, Rolf; Alda, Martin; Alfredsson, Lars; Andlauer, Till F M; Andreassen, Ole A; Antoniou, Anastasia; Baune, Bernhard T; Bengesser, Susanne; Biernacka, Joanna; Boehnke, Michael; Bosch, Rosa; Cairns, Murray J; Carr, Vaughan J; Casas, Miquel; Catts, Stanley; Cichon, Sven; Corvin, Aiden; Craddock, Nicholas; Dafnas, Konstantinos; Dalkner, Nina; Dannlowski, Udo; Degenhardt, Franziska; Di Florio, Arianna; Dikeos, Dimitris; Fellendorf, Frederike Tabea; Ferentinos, Panagiotis; Forstner, Andreas J; Forty, Liz; Frye, Mark; Fullerton, Janice M; Gawlik, Micha; Gizer, Ian R; Gordon-Smith, Katherine; Green, Melissa J; Grigoroiu-Serbanescu, Maria; Guzman-Parra, José; Hahn, Tim; Henskens, Frans; Hillert, Jan; Jablensky, Assen V; Jones, Lisa; Jones, Ian; Jonsson, Lina; Kelsoe, John R; Kircher, Tilo; Kirov, George; Kittel-Schneider, Sarah; Kogevinas, Manolis; Landén, Mikael; Leboyer, Marion; Lenger, Melanie; Lissowska, Jolanta; Lochner, Christine; Loughland, Carmel; MacIntyre, Donald J; Martin, Nicholas G; Maratou, Eirini; Mathews, Carol A; Mayoral, Fermin; McElroy, Susan L; McGregor, Nathaniel W; McIntosh, Andrew; McQuillin, Andrew; Michie, Patricia; Mitchell, Philip B; Moutsatsou, Paraskevi; Mowry, Bryan; Müller-Myhsok, Bertram; Myers, Richard M; Nenadić, Igor; Nievergelt, Caroline M; Nöthen, Markus M; Nurnberger, John; 'Donovan, Michael O; 'Donovan, Claire O; Ophoff, Roel A; Owen, Michael J; Pantelis, Christos; Pato, Carlos; Pato, Michele T; Patrinos, George P; Pawlak, Joanna M; Perlis, Roy H; Porichi, Evgenia; Posthuma, Danielle; Ramos-Quiroga, Josep Antoni; Reif, Andreas; Reininghaus, Eva Z; Ribasés, Marta; Rietschel, Marcella; Schall, Ulrich; Schofield, Peter R; Schulze, Thomas G; Scott, Laura; Scott, Rodney J; Serretti, Alessandro; Smoller, Jordan W; Świątkowska, Beata; Soler Artigas, Maria; Stein, Dan J; Streit, Fabian; Toma, Claudio; Tooney, Paul; Vawter, Marquis P; Vieta, Eduard; Vincent, John B; Waldman, Irwin D; Weickert, Cynthia Shannon; Weickert, Thomas; Witt, Stephanie H; Hong, Kyung Sue; Ikeda, Masashi; Iwata, Nakao; Won, Hong-Hee; Edenberg, Howard J; Ripke, Stephan; Raj, Towfique; Coleman, Jonathan R I; Mullins, Niamh

TDP-43 loss induces cryptic polyadenylation in ALS/FTD.

TDP-43 缺失导致 ALS/FTD 中出现隐蔽的多聚腺苷酸化。

Bryce-Smith Sam, Brown Anna-Leigh, Chien Max Z Y J, Dattilo Dario, Mehta Puja R, Mattedi Francesca, Barattucci Simone, Mikheenko Alla, Zanovello Matteo, Pellegrini Flaminia, El-Agamy Sara Emad, Yome Matthew, Hill Sarah E, Qi Yue A, Sun Kai, Ryadnov Eugeni, Wan Yixuan, Vargas Jose Norberto S, Birsa Nicol, Raj Towfique, Humphrey Jack, Keuss Matthew, Wilkins Oscar G, Ward Michael, Secrier Maria, Fratta Pietro

DNA methylation as a contributor to dysregulation of STX6 and other frontotemporal Lobar degeneration genetic risk-associated loci

DNA甲基化是STX6和其他额颞叶变性遗传风险相关位点失调的促成因素

Rambarack, Naiomi; Fodder, Katherine; Murthy, Megha; Toomey, Christina; de Silva, Rohan; Heutink, Peter; Humphrey, Jack; Raj, Towfique; Lashley, Tammaryn; Bettencourt, Conceição

Effect of image‐processing and statistical harmonization methods on tau PET cognitive group separability for multisite cross‐sectional and longitudinal studies using (18)F‐Flortaucipir PET

图像处理和统计协调方法对使用 (18)F-Flortaucipir PET 的多中心横断面和纵向研究中 tau PET 认知组可分离性的影响

Rambarack, Naiomi; Fodder, Katherine; Murthy, Megha; Toomey, Christina; de Silva, Rohan; Heutink, Peter; Humphrey, Jack; Raj, Towfique; Lashley, Tammaryn; Bettencourt, Conceição; Marcatti, Michela; Fracassi, Anna; Zhang, Wenru; Kayed, Rakez; Taglialatela, Giulio; Cui, Mei; Huang, Yu‐Yuan; Fan, Yiren; Yu, Jin‐Tai; Noel, Anastasia; Brison, Elodie; Griffin, Laura; Bedell, Barry J; Luo, Weiquan; Laymon, Charles M; Baker, Suzanne L; Aizenstein, Howard J; Tudorascu, Dana L; Minhas, Davneet S

Mapping genetic effects on splicing in ten thousand post-mortem brain samples reveals novel mediators of neurological disease risk

通过对一万份死后脑组织样本进行基因剪接效应分析,揭示了神经系统疾病风险的新介质。

Réal, Aline; Bp, Kailash; Dredge, Winston H; Muller, Benjamin Z; Jang, Beomjin; Tokolyi, Alex; Won, Hong-Hee; Humphrey, Jack; Raj, Towfique; Knowles, David A

Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease

整合应激反应特征驱动GBA1和LRRK2相关帕金森病中的单核细胞功能障碍

Mattei, Daniele; Brophy, Erica; Rosen, Mikaela; Majos, Oriol Narcis; Domingo, Aloysius; Meijia, Elena; Jang, Beomjin; Khashan, Tarek; Yang, Mengxi; Raymond, Deborah; Young, Casey; Humphrey, Jack; Navarro, Elisa; Allan, Amanda; Leaver, Katherine; Katsnelson, Viktoriya; Chung, Alexander; Muller, Benjamin; Swan, Matthew; Shanker, Vicki L; Pullman, Mariel; Wise, Adina; Ortega, Roberto; Astudillo, Kelly; Frucht, Steven; Bressman, Susan; Riboldi, Giulietta; Ozelius, Laurie J; Saunders-Pullman, Rachel; Raj, Towfique

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential

对 TDP-43 丢失的敏感性和降解抵抗性决定了隐蔽外显子作为生物标志物的潜力。

Brown, Anna-Leigh; Zanovello, Matteo; Mikheenko, Alla; Dattilo, Dario; Pellegrini, Flaminia; Bryce-Smith, Sam; Mattedi, Francesca; Mehta, Puja R; Vargas, Jose Norberto S; Humphrey, Jack; Keuss, Matthew J; Fratta, Pietro