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Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa.
Tachibana N, Hosono K, Nomura S, Arai S, Torii K, Kurata K, Sato M, Shimakawa S, Azuma N, Ogata T, Wada Y, Okamoto N, Saitsu H, Nishina S, Hotta Y. Tachibana N, et al. Among authors: hosono k. Genes (Basel). 2022 Feb 16;13(2):359. doi: 10.3390/genes13020359. Genes (Basel). 2022. PMID: 35205402 Free PMC article.
Clinical features of a Japanese case with Bothnia dystrophy.
Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M, Kondo M, Minoshima S, Hotta Y. Nojima K, et al. Among authors: hosono k. Ophthalmic Genet. 2012 Jun;33(2):83-8. doi: 10.3109/13816810.2011.634877. Epub 2011 Dec 15. Ophthalmic Genet. 2012. PMID: 22171637
Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.
Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sato M, Kondo M, Minoshima S, Hotta Y. Hosono K, et al. PLoS One. 2012;7(2):e31036. doi: 10.1371/journal.pone.0031036. Epub 2012 Feb 17. PLoS One. 2012. PMID: 22363543 Free PMC article.
Interaction between optineurin and the bZIP transcription factor NRL.
Wang C, Hosono K, Ohtsubo M, Ohishi K, Gao J, Nakanishi N, Hikoya A, Sato M, Hotta Y, Minoshima S. Wang C, et al. Among authors: hosono k. Cell Biol Int. 2014 Jan;38(1):16-25. doi: 10.1002/cbin.10174. Epub 2013 Sep 12. Cell Biol Int. 2014. PMID: 23956131
The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.
Zhao Y, Hosono K, Suto K, Ishigami C, Arai Y, Hikoya A, Hirami Y, Ohtsubo M, Ueno S, Terasaki H, Sato M, Nakanishi H, Endo S, Mizuta K, Mineta H, Kondo M, Takahashi M, Minoshima S, Hotta Y. Zhao Y, et al. Among authors: hosono k. J Hum Genet. 2014 Sep;59(9):521-8. doi: 10.1038/jhg.2014.65. Epub 2014 Jul 31. J Hum Genet. 2014. PMID: 25078356
415 results