Zobrazeno 1 - 10
of 440
pro vyhledávání: '"Mikulasova A."'
Autor:
Marketa Wayhelova, Vladimira Vallova, Petr Broz, Aneta Mikulasova, Jan Smetana, Hana Dynkova Filkova, Dominika Machackova, Kristina Handzusova, Renata Gaillyova, Petr Kuglik
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background Neurodevelopmental disorders (NDDs) and/or associated multiple congenital abnormalities (MCAs) represent a genetically heterogeneous group of conditions with an adverse prognosis for the quality of intellectual and social abilitie
Externí odkaz:
https://doaj.org/article/46268ac87d8b4810be2aceadfdb01208
Autor:
Brigid S. A. Davidson, Juliana Estefania Arcila-Galvis, Marco Trevisan-Herraz, Aneta Mikulasova, Chris A. Brackley, Lisa J. Russell, Daniel Rico
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
The myeloma overexpressed gene (MYEOV) has been proposed to be a proto-oncogene due to high RNA transcript levels found in multiple cancers, including myeloma, breast, lung, pancreas and esophageal cancer. The presence of an open reading frame (ORF)
Externí odkaz:
https://doaj.org/article/1f694ffff3bd4f6489047d823ad5fb2c
Akademický článek
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Autor:
Cody Ashby, Eileen M. Boyle, Michael A. Bauer, Aneta Mikulasova, Christopher P. Wardell, Louis Williams, Ariel Siegel, Patrick Blaney, Marc Braunstein, David Kaminetsky, Jonathan Keats, Francesco Maura, Ola Landgren, Brian A. Walker, Faith E. Davies, Gareth J. Morgan
Publikováno v:
Blood Cancer Journal, Vol 12, Iss 5, Pp 1-9 (2022)
Abstract Deciphering genomic architecture is key to identifying novel disease drivers and understanding the mechanisms underlying myeloma initiation and progression. In this work, using the CoMMpass dataset, we show that structural variants (SV) occu
Externí odkaz:
https://doaj.org/article/bfe0c5a7378449fc9275731e9baa6d54
Autor:
Hason, Martina *, Mikulasova, Tereza *, Machonova, Olga, Pombinho, Antonio, van Ham, Tjakko J., Irion, Uwe, Nüsslein-Volhard, Christiane, Bartunek, Petr *, Svoboda, Ondrej *
Publikováno v:
In Blood Advances 8 March 2022 6(5):1474-1488
Autor:
Davidson, Brigid S. A., Arcila-Galvis, Juliana Estefania, Trevisan-Herraz, Marco, Mikulasova, Aneta, Brackley, Chris A., Russell, Lisa J., Rico, Daniel
Publikováno v:
Frontiers in Cell & Developmental Biology; 2024, p1-15, 15p
Autor:
M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. de Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D’Hauwers, E. Schaafsma, Genetics of Male Infertility Initiative (GEMINI) consortium, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tüttelmann, M. K. O’Bryan, L. Ramos, M. J. Xavier, G. W. van der Heijden, J. A. Veltman
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-10 (2022)
Germline de novo mutations can impact individual fitness, but their role in human male infertility is understudied. Trio-based exome sequencing identifies many new candidate genes affecting male fertility, including an essential regulator of male ger
Externí odkaz:
https://doaj.org/article/da39d7bc3438462b91547e5622b3b7e7
Akademický článek
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Autor:
Bénedith Oben, Guy Froyen, Kylee H. Maclachlan, Daniel Leongamornlert, Federico Abascal, Binbin Zheng-Lin, Venkata Yellapantula, Andriy Derkach, Ellen Geerdens, Benjamin T. Diamond, Ingrid Arijs, Brigitte Maes, Kimberly Vanhees, Malin Hultcrantz, Elisabet E. Manasanch, Dickran Kazandjian, Alexander Lesokhin, Ahmet Dogan, Yanming Zhang, Aneta Mikulasova, Brian Walker, Gareth Morgan, Peter J. Campbell, Ola Landgren, Jean-Luc Rummens, Niccolò Bolli, Francesco Maura
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
The factors that are associated with myeloma precursor condition progression are not well understood. Here the authors find that monoclonal gammopathies of undetermined significance and smoldering myelomas that did not progress to multiple myelomas h
Externí odkaz:
https://doaj.org/article/cf7b932cecac4fc1b4e380aa66de4cb0
Autor:
Simon Bomken, Amir Enshaei, Edward C. Schwalbe, Aneta Mikulasova, Yunfeng Dai, Masood Zaka, Kent T.M. Fung, Matthew Bashton, Huezin Lim, Lisa Jones, Nefeli Karataraki, Emily Winterman, Cody Ashby, Andishe Attarbaschi, Yves Bertrand, Jutta Bradtke, Barbara Buldini, G.A. Amos Burke, Giovanni Cazzaniga, Gudrun Gohring, Hesta A. de Groot-Kruseman, Claudia Haferlach, Luca Lo Nigro, Mayur Parihar, Adriana Plesa, Emma Seaford, Edwin Sonneveld, Sabine Strehl, Vincent H.J. van der Velden, Vikki Rand, Stephen P. Hunger, Christine J. Harrison, Chris M. Bacon, Frederik W. van Delft, Mignon L. Loh, John Moppett, Josef Vormoor, Brian A. Walker, Anthony V. Moorman, Lisa J. Russell
Publikováno v:
Haematologica, Vol 108, Iss 3 (2022)
Rarely, immunophenotypically immature B-cell precursor acute lymphoblastic leukemia (BCP-ALL) carries an immunoglobulin- MYC rearrangement (IG-MYC-r). This can result in diagnostic confusion with Burkitt lymphoma/leukemia and use of individualized tr
Externí odkaz:
https://doaj.org/article/7ac03037b4cc476bb5a3d391aea80fe8