The Parkinson's Disease DNA Variant Browser

Autor: Mary B. Makarious, Hirotaka Iwaki, Jinhui Ding, Dena G. Hernandez, Janet Brooks, Sara Bandres-Ciga, Cornelis Blauwendraat, Mike A. Nalls, Jonggeol J. Kim, J. R. Gibbs, Andrew B. Singleton, Francis P. Grenn

Publikováno v: Movement Disorders

Background Parkinson's disease (PD) is a genetically complex neurodegenerative disease with ~20 genes known to contain mutations that cause PD or atypical parkinsonism. Large‐scale next‐generation sequencing projects have revolutionized genomics

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c500bf3e3ad061dbc004643411afe7a9
https://doi.org/10.1002/mds.28488

Investigation of Autosomal Genetic Sex Differences in Parkinson’s disease

Autor: Andrew B. Singleton, Kathrin Brockmann, Ziv Gan-Or, Alexis Brice, Lynne Krohn, Ari Siitonen, Mike A. Nalls, Sara Bandres-Ciga, Donald G. Grosset, Alastair J. Noyce, Nicholas W. Wood, Hampton L. Leonard, Manuela Tan, Hirotaka Iwaki, Jennifer A. Ruskey, Jean-Christophe Corvol, Cornelis Blauwendraat, J. R. Gibbs, Francis P. Grenn, Mary B. Makarious, Jacobus J. van Hilten, Suzanne Lesage, Lasse Pihlstrøm, John Hardy, Peter Heutink, Huw R. Morris, Claudia Schulte, Kari Majamaa, Julie Lake, Thomas Gasser, Manu Sharma, Pentti J. Tienari, Johanna Eerola-Rautio, Jonggeol Jeff Kim, Mathias Toft, Johan Marinus, Dena G. Hernandez

Parkinson’s disease (PD) is a complex neurodegenerative disorder. Males are on average ∼1.5 times more likely to develop PD compared to females. Over the years genome-wide association studies (GWAS) have identified numerous genetic risk factors f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::674955606349d62a9e4f44b74ebccaf8
https://doi.org/10.1101/2021.02.09.21250262

Discovery of UFO Proteins: Human-Virus Chimeric Proteins Generated During Influenza Virus Infection

Autor: J. R. Gibbs, van Bakel H, Brad R. Rosenberg, Guoqiao Wang, Ho Jsy, J W Yewdell, Benjamin D. Greenbaum, Jiajie Wei, Justine Noel, Matthew Angel, Adolfo Garcia-Sastre, Emily R. Miraldi, Nevan J. Krogan, Marta Łuksza, Ivan Marazzi, Christopher Benner, Yixuan Ma, Jeffrey S. Johnson, Nan Zhao, Zuleyma Peralta, Natasha Moshkina, Michelle C. Y. Chang

Influenza A virus (IAV) is a threat to mankind because it generates yearly epidemics and poorly predictable sporadic pandemics with catastrophic potential. IAV has a small RNA genome composed of 8 mini-chromosomes (segments) that constitute a 5’UTR

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91bf361e300a3af640a15054c7eaf4e1
https://doi.org/10.1101/597617

Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease

Autor: Mina Ryten, Daniah Trabzuni, J. Ding, Bart Post, Albert Hofman, Jean-Charles Lambert, Olaf Riess, Michele T.M. Hu, Andrew B. Singleton, Stephen Sawcer, X. Huang, Caroline H. Williams-Gray, H. R. Zielke, C Smith, Peter Lichtner, B.P.C. van de Warrenburg, Bernard Ravina, F. Durif, Ellen Sidransky, Mike A. Nalls, Karen E. Morrison, J. R. Gibbs, Robert L. Johnson, Peter Heutink, David J. Burn, Michael Bonin, Sarah Edkins, T. Gasser, Luigi Ferrucci, H. Chau, Sampath Arepalli, Chris C. A. Spencer, Yoav Ben-Shlomo, Honglei Chen, Caroline M. Tanner, Zoltán Bochdanovits, Ruth Chia, Heiko Huber, Kari Stefansson, Dena G. Hernandez, Jean-Marc Taymans, Veerle Baekelandt, Iakov N. Rudenko, Evy Lobbestael, Huw R. Morris, A. Goate, C. Moorby, Lois E. Greene, Manu Sharma, Emma Gray, Ira Shoulson, Janet Brooks, Juan C. Troncoso, K. Shaw, Laura Civiero, Alessandra Biffi, Hans Scheffer, Matthew Moore, Alan B. Zonderman, S. Sveinbjornsdottir, Avazeh Tashakkori-Ghanbaria, Jean-Christophe Corvol, Vincent Plagnol, H. Petursson, Alice Kaganovich, M M Wickremaratchi, Nigel Williams, Thomas Foltynie, Henk W. Berendse, P. Damier, A. Strange, J. M. Cooper, Simon C. Potter, Patricia Limousin, Jiali Gao, Sophie Winder-Rhodes, M. Van Der Brug, Marie Vidailhet, Elisa Greggio, Nicholas W. Wood, Kevin Talbot, M. R. Cookson, Johanna Huttenlocher, J.J. van Hilten, Dan L. Longo, Alisdair McNeill, François Tison, K.D. van Dijk, David N. Hauser, Allissa Dillman, Suneil K. Kalia, Lorraine V. Kalia, Patrick F. Chinnery, Alexis Brice, Kelechi Ndukwe, J. F. Dartigues, M. Gardner, Mohamad Saad, Palmi V. Jonsson, Kailash P. Bhatia, Roger A. Barker, André G. Uitterlinden, Maria Martinez, R. Walker, Elisa Majounie, Fernando Rivadeneira, Joel S. Perlmutter, Panagiotis Deloukas, Bryan J. Traynor, Ese E. Mudanohwo, Grisel Lopez, UM Sheerin, Joanne D. Stockton, Thomas Illig, Andres M. Lozano, Rita Guerreiro, David T. Dexter, Andrew J. Lees, Sean Chong, Gavin Hudson, Cordelia Langford, Günther Deuschl, Ravindran Kumaran, Janice L. Holton, Tamas Revesz, B.R. Bloem, Alexandra Beilina, Clare Elizabeth Harris, Daniela Berg, Anthony H.V. Schapira, Suzanne Lesage, Sean S. O'Sullivan, Albert R. Hollenbeck, James A. Pearson, R. M. A. de Bie, Delia Lorenz, Sarah E. Hunt, Richard O'Brien, Gavin Charlesworth, Maciej B. Olszewski, Stacy Steinberg, Kathrin Brockmann, Carl E Clarke, Patrizia Rizzu, Claudia Schulte, Hreinn Stefansson, Daan C. Velseboer, Omar Gustafsson, Jonathan R. Evans, Alexandra Durr, Javier Simón-Sánchez, Pierre Pollak, H. Z. Munchen, Jose Bras, Carl Counsell, John Hardy

Publikováno v: Proceedings of the National Academy of Sciences, 111(7), 2626-2631
Proceedings of the National Academy of Sciences USA, 111, 2626-31
Proceedings of the National Academy of Sciences of the United States of America, 111(7), 2626-2631. National Academy of Sciences
Proc. Natl. Acad. Sci. U.S.A. 111, 2626-2631 (2014)
Proceedings of the National Academy of Sciences USA, 111, 7, pp. 2626-31

Item does not contain fulltext Mutations in leucine-rich repeat kinase 2 (LRRK2) cause inherited Parkinson disease (PD), and common variants around LRRK2 are a risk factor for sporadic PD. Using protein-protein interaction arrays, we identified BCL2-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f039110c8ce3d814891d0913e28b739c
https://doi.org/10.1073/pnas.1318306111

Genome-wide association study of obsessive-compulsive disorder

Autor: Helena Garrido, Richard O'Brien, Michael H. Bloch, David L. Pauls, M. Van Der Brug, Anna Tikhomirov, Andrew B. Singleton, Susanne Walitza, Benjamin M. Neale, Patrick Evans, Rianne M. Blom, Mina Ryten, James L. Kennedy, Christopher Pittenger, C. Illman, Amin Azzam, Stephen A. Haddad, Gregory L. Hanna, Michele T. Pato, D. Rosenberg, Maurizio Turiel, Stephan Ruhrmann, Peter Falkai, Nuria Lanzagorta, Richard Delorme, D. G. Hernandez, Leonhard Lennertz, Abby J. Fyer, M Conceição do Rosário, Euripedes Constantino Miguel, John Hardy, Carlos N. Pato, Francesca Frau, Hans-Jörgen Grabe, Daniele Cusi, Alan B. Zonderman, Dieter Deforce, Peter Heutink, Brooke Sheppard, Jacquelyn Crane, Dongmei Yu, Danielle C. Cath, Rainald Moessner, Nancy J. Cox, Shaun Purcell, James A. Knowles, Daniel B. Mirel, Aline S. Sampaio, D. L. Murphy, R. Johnson, Jens R. Wendland, David V. Conti, Carolina Cappi, Paula Umaña, Marco A. Grados, Dan J. Stein, J. R. Gibbs, Humberto Nicolini, Anna Pluzhnikov, Denise A. Chavira, F. Van Nieuwerburgh, Valsamma Eapen, Lisa Osiecki, Christine Lochner, Juan C. Troncoso, Jeremy Veenstra-VanderWeele, Mark A. Riddle, Michael Wagner, Jeremiah M. Scharf, Beatriz Camarena, Edwin H. Cook, Ana Gabriela Hounie, Daniah Trabzuni, Donald W. Black, Scott L. Rauch, Marion Leboyer, Andrew Crenshaw, S. E. Stewart, Roel A. Ophoff, Dianne M. Hezel, Damiaan Denys, Gerald Nestadt, Melissa Parkin, Karin Egberts, Colin Smith, Anuar Konkashbaev, Danielle Posthuma, Vladimir Coric, James F. Leckman, Eric Strengman, Jack Samuels, Tobias J. Renner, Michael E. Weale, L. Ferrucci, Mark R. Cookson, Laura Bellodi, Oscar J. Bienvenu, C. Mayerfeld, Christopher K. Edlund, Youfa Wang, Robert Walker, Dan L. Longo, Maria Cristina Cavallini, James T. McCracken, Jesen Fagerness, H. R. Zielke, Homero Vallada, Chunyu Liu, Bernadette Cullen, Carol A. Mathews, Sian M. J. Hemmings, Allissa Dillman, E. Voyiaziakis, Fabio Macciardi, Eduardo Fournier, Benjamin D. Greenberg, Eric R. Gamazon, S. Arepalli, Margaret A. Richter, Bryan J. Traynor, Michael A. Jenike, J.H. Smit, M. A. Nalls, Lauren M. McGrath, Paul D. Arnold, H.G.M. Westenberg, W. Maier

Publikováno v: MOLECULAR PSYCHIATRY
Molecular psychiatry, 18(7), 788-798. Nature Publishing Group
Stewart, S E, Yu, D, Scharf, J M, Neale, B M, Fagerness, J A, Mathews, C A, Arnold, P D, Evans, P D, Gamazon, E R, Davis, L K, Osiecki, L, McGrath, L, Haddad, S, Crane, J, Hezel, D, Illmann, C, Mayerfeld, C, Konkashbaev, A I, Liu, C, Pluzhnikov, A, Tikhomirov, A, Edlund, C K, Rauch, S L, Moessner, R, Falkai, P, Maier, W, Ruhrmann, S, Grabe, H J, Lennertz, L, Wagner, M, Bellodi, L, Cavallini, M C, Richter, M A, Cook, E H, Kennedy, J L, Rosenberg, D, Stein, D J, Hemmings, S M, Lochner, C, Azzam, A, Chavira, D A, Fournier, E, Garrido, H, Sheppard, B, Umaña, P, Murphy, D L, Wendland, J R, Veenstra-Vanderweele, J, Denys, D, Blom, R, Deforce, D, van Nieuwerburgh, F, Westenberg, H G, Walitza, S, Egberts, K, Renner, T, Miguel, E C, Cappi, C, Hounie, A G, Conceição do Rosário, M, Sampaio, A S, Vallada, H, Nicolini, H, Lanzagorta, N, Camarena, B, Delorme, R, Leboyer, M, Pato, C N, Pato, M T, Voyiaziakis, E, Heutink, P, Cath, D C, Posthuma, D, Smit, J H, Samuels, J, Bienvenu, O J, Cullen, B, Fyer, A J, Grados, M A, Greenberg, B D, McCracken, J T, Riddle, M A, Wang, Y, Coric, V, Leckman, J F, Bloch, M, Pittenger, C, Eapen, V, Black, D W, Ophoff, R A, Strengman, E, Cusi, D, Turiel, M, Frau, F, Macciardi, F, Gibbs, J R, Cookson, M R, Singleton, A, Hardy, J, Crenshaw, A T, Parkin, M A, Mirel, D B, Conti, D V, Purcell, S, Nestadt, G, Hanna, G L, Jenike, M A, Knowles, J A, Cox, N & Pauls, D L 2013, ' Genome-wide association study of obsessive-compulsive disorder ', Molecular Psychiatry, vol. 18, no. 7, pp. 788-798 . https://doi.org/10.1038/mp.2012.85
Molecular Psychiatry, 18(7), 788-798. Nature Publishing Group
Molecular Psychiatry, 18, 788-798. Nature Publishing Group

Obsessive-compulsive disorder (OCD) is a common, debilitating neuropsychiatric illness with complex genetic etiology. The International OCD Foundation Genetics Collaborative (IOCDF-GC) is a multi-national collaboration established to discover the gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94b0ea4362a0a0cf0fa3ba59bed2e249
https://doi.org/10.1038/mp.2012.85