Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Mika Nakamoto-Kinoshita"'
Autor:
Xiaodong Cheng, Stephen T. Warren, Salman Kirmani, Leila K. Myrick, Noralane M. Lindor, Mika Nakamoto-Kinoshita
Publikováno v:
European Journal of Human Genetics. 22:1185-1189
Fragile X syndrome is a common inherited form of intellectual disability and autism spectrum disorder. Most patients exhibit a massive CGG-repeat expansion mutation in the FMR1 gene that silences the locus. In over two decades since the discovery of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11709a4e16595ce640c27eb7ccdf0e69
https://doi.org/10.1038/ejhg.2013.311
https://doi.org/10.1038/ejhg.2013.311
Autor:
Stephen T. Warren, Andres Blanco, Jinrong Min, Bluma J. Lesch, Shuzhen Chen, David C. Page, Tatiana G. Kutateladze, Matthew D. Simon, Wolfgang Fischle, Chao Xu, Yang Shi, Robert E. Kingston, Christopher R. Vakoc, Alexandra Stützer, Roman Alpatov, Jernej Murn, Mika Nakamoto-Kinoshita, Karim-Jean Armache, Sladjana Prisic, Muzaffar Ali
Publikováno v:
Cell, vol 157, iss 4
Cell
PMC
Cell
PMC
Fragile X syndrome, a common form of inherited intellectual disability, is caused by loss of the fragile X mental retardation protein FMRP. FMRP is present predominantly in the cytoplasm, where it regulates translation of proteins that are important
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e456b05595fd8d77125f2bb3e59e71
https://escholarship.org/uc/item/7z33113t
https://escholarship.org/uc/item/7z33113t
Autor:
Peter C. Kind, Peter W. Vanderklish, Richard Paylor, Friso R. Postma, Mika Nakamoto Kinoshita, Mark F. Bear, Christopher Brynczka, Alexia M. Thomas, Lasani S. Wijetunge, Christina Henderson, Rebecca S. Hammond, Matthew Shumway, Stephen T. Warren, Roger Rush, Aileen M. Healy, Randall L. Carpenter
Publikováno v:
Sci Transl Med
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and autism, results from the transcriptional silencing of FMR1 and loss of the mRNA translational repressor protein fragile X mental retardation protein (FMRP). Pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41591e302c4dfca2453845ec0cdd967f
https://doi.org/10.1126/scitranslmed.3004218
https://doi.org/10.1126/scitranslmed.3004218
Autor:
Chao Xu, Zhen Ye, Robert E. Kingston, Chuanbing Bian, Matthew D. Simon, Gangqing Hu, Alexandra Stuetzer, Eric L. Greer, Keji Zhao, Ying Luu, Feizhen Wu, Zhibin Wang, Mika Nakamoto-Kinoshita, Christopher R. Vakoc, Roman Alpatov, William N. Beavers, Ulrich Wagner, Stephen T. Warren, Karim-Jean Armache, Bing Ren, Yahong Guo, Yang Shi, Jinrong Min, Paul T. Morrison, Wolfgang Fischle
Publikováno v:
The FASEB Journal. 26
In humans, loss of the fragile X mental retardation protein, FMRP, leads to the most common inherited form of intellectual disability, the fragile X syndrome. FMRP is predominantly present in the c...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c3db949b4ef533225d0dd20f2bb2462
https://doi.org/10.1096/fasebj.26.1_supplement.88.1
https://doi.org/10.1096/fasebj.26.1_supplement.88.1