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A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.
Yanagisawa H, Fujii K, Nagafuchi S, Nakahori Y, Nakagome Y, Akane A, Nakamura M, Sano A, Komure O, Kondo I, Jin DK, Sørensen SA, Potter NT, Young SR, Nakamura K, Nukina N, Nagao Y, Tadokoro K, Okuyama T, Miyashita T, Inoue T, Kanazawa I, Yamada M. Yanagisawa H, et al. Among authors: sano a. Hum Mol Genet. 1996 Mar;5(3):373-9. doi: 10.1093/hmg/5.3.373. Hum Mol Genet. 1996. PMID: 8852663
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.
Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka F, Sobue G, Komure O, Takahashi M, Sano A, Ichikawa Y, Goto J, Kanazawa I, et al. Sato T, et al. Among authors: sano a. Hum Mol Genet. 1999 Jan;8(1):99-106. doi: 10.1093/hmg/8.1.99. Hum Mol Genet. 1999. PMID: 9887337
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.
Terasaki A, Nakamura M, Urata Y, Hiwatashi H, Yokoyama I, Yasuda T, Onuma T, Wada K, Kaneko S, Kan R, Niwa SI, Hashimoto O, Komure O, Goto YI, Yamagishi Y, Nakano M, Furusawa Y, Sano A. Terasaki A, et al. Among authors: sano a. J Hum Genet. 2021 Apr;66(4):419-429. doi: 10.1038/s10038-020-00855-0. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040085
1,022 results