Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

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

Common Sequence Variants in the LOXL1 Gene Confer Susceptibility to Exfoliation Glaucoma

Autor: Arsaell Arnarsson, Thorlakur Jonsson, Daniel F. Gudbjartsson, Adalbjorg Jonasdottir, Gudmundur A. Hardarson, Jeffrey R. Gulcher, Kristinn P. Magnusson, Unnur Thorsteinsdottir, Fridbert Jonasson, Hreinn Stefansson, Mehdi Motallebipour, Kari Stefansson, Aslaug Jonasdottir, Augustine Kong, Ola Wallerman, Gudmar Thorleifsson, Gisli Masson, G. Bragi Walters, Claes Wadelius, Gerdur Stefansdottir, H. Petursson, Patrick Sulem

Publikováno v: Science. 317:1397-1400

Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d36d1c4f8c42174e6416de6c0ef84edd
https://doi.org/10.1126/science.1146554

Evaluation of intraoperative touch imprint cytology on sentinel nodes in invasive breast carcinomas, a retrospective study of 1,225 patients comparing sensitivity between different tumor subtypes

Autor: H. Petursson, A. Kovács, R. Olofsson Bagge, Jan Mattsson

Publikováno v: The Breast. 32:S57

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::300e9adaeccce50ff98b99f1fba0c820
https://doi.org/10.1016/s0960-9776(17)30201-1

Variant in the sequence of the LINGO1 gene confers risk of essential tremor

Autor: David B. Rye, Finnbogi Jakobsson, John Benedikz, Thorlakur Jonsson, Kari Stefansson, Lisa A Miyatake, Hreinn Stefansson, Theodora Thorlacius, Iris H Gudjonsdottir, Stefan T Palsson, Jona Saemundsdottir, Christoph Hotzy, H. Petursson, Ludger Schöls, Kristleifur Kristleifsson, Martin Dichgans, Jeffrey R. Gulcher, Gyda Bjornsdottir, Friedrich Asmus, Ami Rosen, Claudia M. Testa, Yvonne Böttcher, Omar Gustafsson, Unnur Thorsteinsdottir, Alexander Zimprich, Stacy Steinberg, Gudrun A. Jonsdottir, Dietrich Haubenberger, Eduard Auff, Augustine Kong

Publikováno v: Nature Genetics. 41:277-279

We identified a marker in LINGO1 showing genome-wide significant association (P = 1.2 × 10−9, odds ratio = 1.55) with essential tremor. LINGO1 has potent, negative regulatory influences on neuronal survival and is also important in regulating both

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c94958f05d0b1d6da6bcbf56237c7627
https://doi.org/10.1038/ng.299