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Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1.
Takeuchi I, Tanase-Nakao K, Ogawa A, Sugawara T, Migita O, Kashima M, Yamazaki T, Iguchi A, Naiki Y, Uchiyama T, Tamaoki J, Maeda H, Shimizu H, Kawai T, Taniguchi K, Hirata H, Kobayashi M, Matsumoto K, Naruse K, Hata K, Akutsu H, Kato T, Narumi S, Arai K, Ishiguro A. Takeuchi I, et al. Among authors: kobayashi m. J Med Genet. 2024 Feb 21;61(3):239-243. doi: 10.1136/jmg-2023-109444. J Med Genet. 2024. PMID: 37833059 Free article.
Polarization-artifact reduction and accuracy improvement of Jones-matrix polarization-sensitive optical coherence tomography by multi-focus-averaging based multiple scattering reduction.
Zhu L, Makita S, Tamaoki J, Zhu Y, Mukherjee P, Lim Y, Kobayashi M, Yasuno Y. Zhu L, et al. Among authors: kobayashi m. Biomed Opt Express. 2023 Dec 18;15(1):256-276. doi: 10.1364/BOE.509763. eCollection 2024 Jan 1. Biomed Opt Express. 2023. PMID: 38223182 Free PMC article.
A novel gain-of-function phosphorylation site modulates PTPN22 inhibition of TCR signaling.
Zhuang C, Yang S, Gonzalez CG, Ainsworth RI, Li S, Kobayashi MT, Wierzbicki I, Rossitto LM, Wen Y, Peti W, Stanford SM, Gonzalez DJ, Murali R, Santelli E, Bottini N. Zhuang C, et al. Among authors: kobayashi mt. J Biol Chem. 2024 May 20:107393. doi: 10.1016/j.jbc.2024.107393. Online ahead of print. J Biol Chem. 2024. PMID: 38777143 Free article.
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