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Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y, Sasagawa S, Ota N, Oyama R, Tanaka M, Kubota-Sakashita M, Kawakami H, Kobayashi M, Takubo N, Ozeki AN, Sun X, Kim YJ, Kamatani Y, Matsuda K, Maejima K, Fujita M, Noda K, Kamiyama H, Tanikawa R, Nagane M, Shibahara J, Tanaka T, Rikitake Y, Mataga N, Takahashi S, Kosaki K, Okano H, Furihata T, Nakaki R, Akimitsu N, Wada Y, Ohtsuka T, Kurihara H, Kamiguchi H, Okabe S, Nakafuku M, Kato T, Nakagawa H, Saito N, Nakatomi H. Shima Y, et al. Among authors: kim yj. Sci Transl Med. 2023 Jun 14;15(700):eabq7721. doi: 10.1126/scitranslmed.abq7721. Epub 2023 Jun 14. Sci Transl Med. 2023. PMID: 37315111
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.
Tsuchiya M, Nan H, Koh K, Ichinose Y, Gao L, Shimozono K, Hata T, Kim YJ, Ohtsuka T, Cortese A, Takiyama Y. Tsuchiya M, et al. Among authors: kim yj. J Hum Genet. 2020 Dec;65(12):1143-1147. doi: 10.1038/s10038-020-0807-x. Epub 2020 Jul 21. J Hum Genet. 2020. PMID: 32694621
A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor.
Nan H, Kim YJ, Tsuchiya M, Fukao T, Hara N, Hagihara A, Nishioka K, Hattori N, Hara N, Ikeuchi T, Ohtsuka T, Takiyama Y. Nan H, et al. Among authors: kim yj. J Alzheimers Dis. 2021;84(2):599-605. doi: 10.3233/JAD-210706. J Alzheimers Dis. 2021. PMID: 34569959 Free PMC article.
Ubap1 knock-in mice reproduced the phenotype of SPG80.
Shimozono K, Nan H, Hata T, Saito K, Kim YJ, Nagatomo H, Ohtsuka T, Koizumi S, Takiyama Y. Shimozono K, et al. Among authors: kim yj. J Hum Genet. 2022 Dec;67(12):679-686. doi: 10.1038/s10038-022-01073-6. Epub 2022 Aug 12. J Hum Genet. 2022. PMID: 35962060 Free PMC article.
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