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Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome.
Matsumoto H, Fujita Y, Fukatsu M, Ikezoe T, Yokose K, Asano T, Tsuchida N, Maeda A, Yoshida S, Hashimoto H, Temmoku J, Matsuoka N, Yashiro-Furuya M, Sato S, Murakami M, Sato H, Sakuma C, Kawashima K, Shakespear N, Uchiyama Y, Watanabe H, Kirino Y, Matsumoto N, Migita K. Matsumoto H, et al. Among authors: uchiyama y. Front Immunol. 2022 Jun 9;13:897722. doi: 10.3389/fimmu.2022.897722. eCollection 2022. Front Immunol. 2022. PMID: 35757758 Free PMC article.
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
Itai T, Hamanaka K, Sasaki K, Wagner M, Kotzaeridou U, Brösse I, Ries M, Kobayashi Y, Tohyama J, Kato M, Ong WP, Chew HB, Rethanavelu K, Ranza E, Blanc X, Uchiyama Y, Tsuchida N, Fujita A, Azuma Y, Koshimizu E, Mizuguchi T, Takata A, Miyake N, Takahashi H, Miyagi E, Tsurusaki Y, Doi H, Taguri M, Antonarakis SE, Nakashima M, Saitsu H, Miyatake S, Matsumoto N. Itai T, et al. Among authors: uchiyama y. Hum Mutat. 2021 Jan;42(1):66-76. doi: 10.1002/humu.24130. Epub 2020 Nov 10. Hum Mutat. 2021. PMID: 33131106
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
Mizuguchi T, Toyota T, Miyatake S, Mitsuhashi S, Doi H, Kudo Y, Kishida H, Hayashi N, Tsuburaya RS, Kinoshita M, Fukuyama T, Fukuda H, Koshimizu E, Tsuchida N, Uchiyama Y, Fujita A, Takata A, Miyake N, Kato M, Tanaka F, Adachi H, Matsumoto N. Mizuguchi T, et al. Among authors: uchiyama y. Brain. 2021 May 7;144(4):1103-1117. doi: 10.1093/brain/awab021. Brain. 2021. PMID: 33791773
Novel CLTC variants cause new brain and kidney phenotypes.
Itai T, Miyatake S, Tsuchida N, Saida K, Narahara S, Tsuyusaki Y, Castro MAA, Kim CA, Okamoto N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Mizuguchi T, Matsumoto N. Itai T, et al. Among authors: uchiyama y. J Hum Genet. 2022 Jan;67(1):1-7. doi: 10.1038/s10038-021-00957-3. Epub 2021 Jul 7. J Hum Genet. 2022. PMID: 34230591
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: uchiyama y. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
1,191 results