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Year | Number of Results |
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2013 | 1 |
2018 | 2 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
PubMed for id: 438610
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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11.
Clin Genet. 2020.
PMID: 31997314
Crosstalk between Lys63- and Lys11-polyubiquitin signaling at DNA damage sites is driven by Cezanne.
Wu X, Liu S, Sagum C, Chen J, Singh R, Chaturvedi A, Horton JR, Kashyap TR, Fushman D, Cheng X, Bedford MT, Wang B.
Wu X, et al.
Genes Dev. 2019 Dec 1;33(23-24):1702-1717. doi: 10.1101/gad.332395.119. Epub 2019 Nov 7.
Genes Dev. 2019.
PMID: 31699778
Free PMC article.
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Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome.
Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP.
Yin J, et al.
Am J Hum Genet. 2018 Feb 1;102(2):296-308. doi: 10.1016/j.ajhg.2018.01.005.
Am J Hum Genet. 2018.
PMID: 29395075
Free PMC article.
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OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK.
Uddin M, et al.
Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006.
Am J Hum Genet. 2018.
PMID: 29395074
Free PMC article.
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OTU deubiquitinases reveal mechanisms of linkage specificity and enable ubiquitin chain restriction analysis.
Mevissen TE, Hospenthal MK, Geurink PP, Elliott PR, Akutsu M, Arnaudo N, Ekkebus R, Kulathu Y, Wauer T, El Oualid F, Freund SM, Ovaa H, Komander D.
Mevissen TE, et al.
Cell. 2013 Jul 3;154(1):169-84. doi: 10.1016/j.cell.2013.05.046.
Cell. 2013.
PMID: 23827681
Free PMC article.
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