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METTL23 mutation alters histone H3R17 methylation in normal-tension glaucoma.
Pan Y, Suga A, Kimura I, Kimura C, Minegishi Y, Nakayama M, Yoshitake K, Iejima D, Minematsu N, Yamamoto M, Mabuchi F, Takamoto M, Shiga Y, Araie M, Kashiwagi K, Aihara M, Nakazawa T, Iwata T. Pan Y, et al. Among authors: nakayama m. J Clin Invest. 2022 Nov 1;132(21):e153589. doi: 10.1172/JCI153589. J Clin Invest. 2022. PMID: 36099048 Free PMC article.
Significance of optineurin mutations in glaucoma and other diseases.
Minegishi Y, Nakayama M, Iejima D, Kawase K, Iwata T. Minegishi Y, et al. Among authors: nakayama m. Prog Retin Eye Res. 2016 Nov;55:149-181. doi: 10.1016/j.preteyeres.2016.08.002. Epub 2016 Sep 29. Prog Retin Eye Res. 2016. PMID: 27693724 Review.
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L, Fujinami K, Ueno S, Kuniyoshi K, Hayashi T, Kondo M, Mizota A, Naoi N, Shinoda K, Kameya S, Fujinami-Yokokawa Y, Liu X, Arno G, Pontikos N, Kominami T, Terasaki H, Sakuramoto H, Katagiri S, Mizobuchi K, Nakamura N, Mawatari G, Kurihara T, Tsubota K, Miyake Y, Yoshitake K, Iwata T, Tsunoda K; JEGC study group. Yang L, et al. Sci Rep. 2020 Mar 26;10(1):5497. doi: 10.1038/s41598-020-62119-3. Sci Rep. 2020. PMID: 32218477 Free PMC article.
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Fujinami-Yokokawa Y, Fujinami K, Kuniyoshi K, Hayashi T, Ueno S, Mizota A, Shinoda K, Arno G, Pontikos N, Yang L, Liu X, Sakuramoto H, Katagiri S, Mizobuchi K, Kominami T, Terasaki H, Nakamura N, Kameya S, Yoshitake K, Miyake Y, Kurihara T, Tsubota K, Miyata H, Iwata T, Tsunoda K; Japan Eye Genetics Consortium. Fujinami-Yokokawa Y, et al. Sci Rep. 2020 Jun 12;10(1):9531. doi: 10.1038/s41598-020-65737-z. Sci Rep. 2020. PMID: 32533067 Free PMC article.
3,311 results