Zobrazeno 1 - 10
of 30
pro vyhledávání: '"genetics [Repressor Proteins]"'
Autor:
Weihua Liao, Jingyi Tang, Yuting Shi, Peng Huirong, Youming Zhang, Xue-wei Zhang, Qiyong Cai, Chunrong Wang, Puzhi Wang, Thomas Klockgether, Hong Jiang, Jennifer Zhang, Shaohui Liu, Linlin Wan, Tianjiao Li, Yun Peng, Na Wan, Chen Zhao, Yue Xie, Hongyu Yuan, Beisha Tang, Rong Qiu
Publikováno v:
Neurology 95(22), e2977-e2987 (2020). doi:10.1212/WNL.0000000000010671
ObjectiveTo investigate serum neurofilament light protein (sNfL) levels in patients with spinocerebellar ataxia type 3 (SCA3) and to determine whether they are associated with disease severity.MethodsThis cross-sectional study enrolled 185 healthy co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1ff520ff0008db71166e8a290a7522
https://doi.org/10.1212/wnl.0000000000010671
https://doi.org/10.1212/wnl.0000000000010671
Disrupting Roquin-1 interaction with Regnase-1 induces autoimmunity and enhances antitumor responses
Autor:
Stephanie L. Edelmann, Laura S. de Jonge, Lisa Kifinger, Wolfgang Wurst, Florian Giesert, Christine Hohn, Naoto Kawakami, Sebastian Theurich, Mingui Fu, Dierk Niessing, Nina Kronbeck, Martin E. Kirmaier, Vigo Heissmeyer, Timsse Raj, Thomas Monecke, Elena S. Davydova, Elaine H. Wong, Stefan Feske, Gesine Behrens, Mariano Gonzalez Pisfil
Publikováno v:
Nat Immunol
Nat. Immunol. 22, 1563-1576 (2021)
Nature immunology 22(12), 1563-1576 (2021). doi:10.1038/s41590-021-01064-3
Nat. Immunol. 22, 1563-1576 (2021)
Nature immunology 22(12), 1563-1576 (2021). doi:10.1038/s41590-021-01064-3
Roquin and Regnase-1 proteins bind and post-transcriptionally regulate proinflammatory target messenger RNAs to maintain immune homeostasis. Either the sanroque mutation in Roquin-1 or loss of Regnase-1 cause systemic lupus erythematosus-like phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c47294afa473dd395ea8a5b1a5695f3
https://europepmc.org/articles/PMC8996344/
https://europepmc.org/articles/PMC8996344/
Autor:
Lavrrar, Jennifer L.
Publikováno v:
free to MU campus, others may purchase.
Thesis (Ph. D.)--University of Missouri--Columbia, 2002.
Typescript. Vita. Includes bibliographical references (leaves 179-198). Also issued on the Internet.
Typescript. Vita. Includes bibliographical references (leaves 179-198). Also issued on the Internet.
Externí odkaz:
http://wwwlib.umi.com/cr/mo/fullcit?p3074419
Autor:
Bianca Broske, Marianna Tolve, Karen M.J. van Loo, Walid T. Khaled, Ece Öztürk, K. Ushna S. Islam, Sandra Blaess, Stephan L. Baader, Astrid Mentani, Emmanouil Metzakopian, Stefan Britsch, Donato A. Di Monte, Gabriela O. Bodea, Nikolaos Patikas, Pengtao Liu, Ayse Ulusoy, Antonia Wagener
Publikováno v:
Cell reports 36(11), 109697 (2021). doi:10.1016/j.celrep.2021.109697
Cell Reports, Vol 36, Iss 11, Pp 109697-(2021)
Cell Reports, Vol 36, Iss 11, Pp 109697-(2021)
Cell reports 36(11), 109697 (2021). doi:10.1016/j.celrep.2021.109697
Published by Elsevier, [New York, NY]
Published by Elsevier, [New York, NY]
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd6a92a93d1eda5bc05ed8e193c5f547
https://publications.rwth-aachen.de/record/851626
https://publications.rwth-aachen.de/record/851626
Autor:
Milica Živanić, Sigrid C. Schwarz, Tabea Strauß, Peter Heutink, Bianca Eßwein, Dominic Schwarz, Martin Zirngibl, Marcus Conrad, Christian Grätz, Francesco Leandro Vaccaro, Luisa Krumwiede, Julian Geilenkeuser, Wolfgang Wurst, Simone Göppert, Sebastian Doll, Florian Giesert, Christoph Gruber, Günter U. Höglinger, Tobias Santl, Gerald Raffl, Eva Magdalena Beck, Gil G. Westmeyer, Maren Beyer, Valentin Evsyukov, Dong-Jiunn Jeffery Truong, Enikő Baligács, Deniz Tümen, Johann Dietmar Körner, Niklas Armbrust, Teeradon Phlairaharn, Eva-Maria Lederer
Publikováno v:
Nature cell biology 23(6), 652-663 (2021). doi:10.1038/s41556-021-00678-x
Nat. Cell Biol. 23, 652-663 (2021)
Nature Cell Biology
Nat. Cell Biol. 23, 652-663 (2021)
Nature Cell Biology
Expression of exon-specific isoforms from alternatively spliced mRNA is a fundamental mechanism that substantially expands the proteome of a cell. However, conventional methods to assess alternative splicing are either consumptive and work-intensive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf5609f79f3c87eed1e24995d99120a3
Autor:
Lang He, Yuting Shi, Lijing Lei, Linlin Wan, Shang Wang, Yiqing Gong, Qi Deng, Zhichao Tang, Zhao Chen, Na Wan, Xuan Hou, Yun Peng, Mingjie Liu, Jinchen Li, Guangdong Zou, Beisha Tang, Rong Qiu, Thomas Klockgether, Lu Shen, Yue Xie, Zhe Long, Kun Xia, Huirong Peng, Hong Jiang, Hongyu Yuan, Chao Chen, Linliu Peng, Chunrong Wang
Publikováno v:
Neurology 96(23), e2885-e2895 (2021). doi:10.1212/WNL.0000000000012068
ObjectivesThe aim of this study was to develop an appropriate parametric survival model to predict patient's age at onset (AAO) for spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) populations from mainland China.MethodsWe compared the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e8103ab6dd535c6a7edb7637d5a6854
https://pubmed.ncbi.nlm.nih.gov/33893204
https://pubmed.ncbi.nlm.nih.gov/33893204
Autor:
Bernd O. Evert, Sybille Krauss
Publikováno v:
Journal of molecular biology 431(9), 1729-1742 (2019). doi:10.1016/j.jmb.2019.01.019
More than 90% of the human genome are transcribed as non-coding RNAs. While it is still under debate if all these non-coding transcripts are functional, there is emerging evidence that RNA has several important functions in addition to coding for pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e63e8d8ca572d13552faaf5d9e8e356
https://pubmed.ncbi.nlm.nih.gov/30664869
https://pubmed.ncbi.nlm.nih.gov/30664869
Publikováno v:
MicroRNA 8(1), 76-85 (2018). doi:10.2174/2211536607666180821162403
Background: Spinocerebellar ataxia type 3 (SCA3), the most common spinocerebellar ataxia, is caused by a polyglutamine (polyQ) expansion in the protein ataxin-3 (ATXN3). Silencing the expression of polyQ-expanded ATXN3 rescues the cellular disease ph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d5ecaf4ba17989f8e6a01f4496a4f01
https://pubmed.ncbi.nlm.nih.gov/30147021
https://pubmed.ncbi.nlm.nih.gov/30147021
Autor:
Massimo Pandolfo, Sylvia Boesch, Laszlo Baliko, Thomas Klockgether, Sandra Szymanski, Ludger Schöls, Alessandro Filla, Anna Sulek, Arron Cook, Bart P.C. van de Warrenburg, Heike Jacobi, Maria Rakowicz, Jun Suk Kang, Holger Hengel, Michael H Parkinson, Dagmar Timmann, Anna Sobanska, Jon Infante, Alexis Brice, Peter Bauer, Jörg B. Schulz, Lorenzo Nanetti, Sophie Tezenas du Montcel, Antonella Antenora, Cecilia Marelli, Alexandra Durr, Paola Giunti, Robyn Labrum, Marta Panzeri, Béla Melegh, Alhassane Diallo, Perrine Charles, Caterina Mariotti, Sonia Molho, José Berciano, Tanja Schmitz-Hübsch
Publikováno v:
The lancet / Neurology 14(11), 1101-1108 (2015). doi:10.1016/S1474-4422(15)00202-1
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Lancet Neurology, 14, 11, pp. 1101-8
Lancet Neurology, 14, 1101-8
Item does not contain fulltext BACKGROUND: Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases. As potential treatments for these diseases are being developed, precise knowledge of their natural history is needed. We aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::534c17ecab923dbbb896a52ac0d70e3c
https://doi.org/10.1016/s1474-4422(15)00202-1
https://doi.org/10.1016/s1474-4422(15)00202-1
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia
Autor:
Mishra, Aniket, Ferrari, Raffaele, Rohrer, J. D., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Ramasamy, A., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Kwok, J. B. J., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Dobson-Stone, C., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Schofield, P. R., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Halliday, G. M., Kristiansen, M., Chiang, H-H, Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Hodges, J. R., Singleton, A. B., Hardy, J., Momeni, P., Piguet, O., Bartley, L., Thompson, E., Heutink, Peter, Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Hardy, John, Ghidoni, R., Forloni, G., Albani, D., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Pijnenburg, Yolande, Landqvist Waldö, M., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G-Y R, Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., Posthuma, Danielle, McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Consortium, International FTD-Genomics, Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., Ferrari, R., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Hernandez, D. G., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., van der Zee, J., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Leber, I., Hannequin, D., Golfier, V., Nalls, M. A., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M.
Publikováno v:
Brain
Brain, 140(5), 1437-1446. Oxford University Press
Mishra, A, Ferrari, R, Heutink, P, Hardy, J, Pijnenburg, Y & Posthuma, D 2017, ' Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia ', Brain, vol. 140, pp. 1437-1446 . https://doi.org/10.1093/brain/awx066
Brain 140(5), 1437-1446 (2017). doi:10.1093/brain/awx066
Brain, 140, 1437-1446. Oxford University Press
Mishra, A, Ferrari, R, Heutink, P, Hardy, J, Pijnenburg, Y, Posthuma, D & International FTD-Genomics Consortium 2017, ' Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia ', Brain, vol. 140, no. 5, pp. 1437-1446 . https://doi.org/10.1093/brain/awx066
Brain, 140(5), 1437-1446. Oxford University Press
Mishra, A, Ferrari, R, Heutink, P, Hardy, J, Pijnenburg, Y & Posthuma, D 2017, ' Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia ', Brain, vol. 140, pp. 1437-1446 . https://doi.org/10.1093/brain/awx066
Brain 140(5), 1437-1446 (2017). doi:10.1093/brain/awx066
Brain, 140, 1437-1446. Oxford University Press
Mishra, A, Ferrari, R, Heutink, P, Hardy, J, Pijnenburg, Y, Posthuma, D & International FTD-Genomics Consortium 2017, ' Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia ', Brain, vol. 140, no. 5, pp. 1437-1446 . https://doi.org/10.1093/brain/awx066
Genome-wide association studies in frontotemporal dementia showed limited success in identifying associated loci. This is possibly due to small sample size, allelic heterogeneity, small effect sizes of single genetic variants, and the necessity to st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc8f1f855df754776bb921535e73dd71
https://hdl.handle.net/10067/1522220151162165141
https://hdl.handle.net/10067/1522220151162165141