Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Alica Valachova"'
Autor:
Sangmoon Lee, Ryojun Takeda, Nataliya Di Donato, Masashige Bando, Darina Prchalova, Mathieu Quesnel-Vallières, Seiji Mizuno, Naomichi Matsumoto, Koji Masuda, Miroslava Hancarova, Margaret Harr, Karl Hackmann, Zdenek Sedlacek, Alica Valachova, Alyssa Ritter, Eriko Nishi, Tommaso Pippucci, Michiko Arakawa, Katsuhiko Shirahige, Katsunori Fujiki, Elaine H. Zackai, Noriko Miyake, Marketa Vlckova, Ryuichiro Nakato, Aiko Iwata-Otsubo, Yoseph Barash, Christoph Seiler, Dong Li, Beth Keena, Nobuhiko Okamoto, Kosuke Izumi, Jung Min Ko, Sarah K. Fiordaliso, Elizabeth J. Bhoj, Hakon Hakonarson, Murim Choi, Jenny Morton
Publikováno v:
Am J Hum Genet
NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins. Here, we report a disorder of transcriptional regulation due to missense
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e482e0e75fe75f8dd9e62c99c9b3fb4
https://doi.org/10.1016/j.ajhg.2019.09.009
https://doi.org/10.1016/j.ajhg.2019.09.009
Autor:
Peter Spalek, Alica Valachova, Eva Radvanska, Ludevit Kadasi, Emil Polak, Tomáš Szemes, Jan Radvanszky, Gabriela Magyarova, Csaba Bognar, Michaela Hyblova
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 3934, p 3934 (2021)
Journal of Clinical Medicine
Volume 10
Issue 17
Journal of Clinical Medicine
Volume 10
Issue 17
Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)n repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9def07fe0cb8e74b022e55cbe2ba92
https://doi.org/10.3390/jcm10173934
https://doi.org/10.3390/jcm10173934
Autor:
Michael Zech, Sedlácek Z, Sarka Bendova, Miroslava Hancarova, Katarína Okáľová, Alica Valachova, Ján Necpál, Robert Jech, Juliane Winkelmann
Publikováno v:
Parkinsonism & Related Disorders. 77:87-88
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41a81ca0fc94e6d9ba54a691775eac07
https://doi.org/10.1016/j.parkreldis.2020.06.028
https://doi.org/10.1016/j.parkreldis.2020.06.028