Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Kentaro Kurata"'
Autor:
Kaoruko Torii, Sachiko Nishina, Hazuki Morikawa, Kei Mizobuchi, Masakazu Takayama, Nobutaka Tachibana, Kentaro Kurata, Akiko Hikoya, Miho Sato, Tadashi Nakano, Maki Fukami, Noriyuki Azuma, Takaaki Hayashi, Hirotomo Saitsu, Yoshihiro Hotta
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13678 (2023)
Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy. RPGRIP1-related LCA accounts for 5–6% of LCA. We performed whole-exome sequencing and whole-genome sequencing (WGS) on 29 patients with clinically suspected LC
Externí odkaz:
https://doaj.org/article/fd1ddcea7e474033ac490adbafb3f5fd
Autor:
Kentaro Kurata, Katsuhiro Hosono, Masakazu Takayama, Masahisa Katsuno, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 25, Iss , Pp 101298- (2022)
Purpose: To report the clinical findings of a Japanese patient presenting with retinitis pigmentosa (RP) together with optic neuropathy and COQ2 mutations. Observations: The patient had experienced night blindness and photophobia since his 20s. At 27
Externí odkaz:
https://doaj.org/article/41e8f65e121f4a23a0ce2fd377b8d3e1
Autor:
Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Publikováno v:
Genes, Vol 13, Iss 2, p 359 (2022)
Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to
Externí odkaz:
https://doaj.org/article/eeb5cf34b1144c4e930626932f1e7bc3
Autor:
Kei Mizobuchi, Takaaki Hayashi, Noriko Oishi, Daiki Kubota, Shuhei Kameya, Koichiro Higasa, Takuma Futami, Hiroyuki Kondo, Katsuhiro Hosono, Kentaro Kurata, Yoshihiro Hotta, Kazutoshi Yoshitake, Takeshi Iwata, Tomokazu Matsuura, Tadashi Nakano
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 11, p 2265 (2021)
Background: Little is known about genotype–phenotype correlations of RP1-associated retinal dystrophies in the Japanese population. We aimed to investigate the genetic spectrum of RP1 variants and provide a detailed description of the clinical find
Externí odkaz:
https://doaj.org/article/480020e3abb4493986a441f2c7b6c608
Publikováno v:
Case Reports in Ophthalmology, Vol 8, Iss 1, Pp 237-244 (2017)
Background: This report describes a 45-year-old man with complete congenital stationary night blindness (CSNB1) who has been followed up for 38 years. Case: The patient first visited our hospital as a 7-year-old boy with a complaint of low visual acu
Externí odkaz:
https://doaj.org/article/0f722025218c4c1ba35d9e71b9c7b8f3
Autor:
Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, Kei Mizobuchi, Satoshi Katagiri, Daisuke Miyamichi, Sachiko Nishina, Miho Sato, Noriyuki Azuma, Tadashi Nakano, Yoshihiro Hotta
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 6, p 1518 (2019)
X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carri
Externí odkaz:
https://doaj.org/article/c39d180dcdae4911b88fa3f8c791bf65
Autor:
Katsuhiro Hosono, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, Yoshihiro Hotta
Publikováno v:
Journal of Ophthalmology, Vol 2015 (2015)
Purpose. Leber congenital amaurosis (LCA), a genetically and clinically heterogeneous disease, is the earliest onset retinitis pigmentosa (RP) and is the most severe of hereditary retinal dystrophies. This study was conducted to investigate genetic a
Externí odkaz:
https://doaj.org/article/df90e5caf7e84fc3a333128ae8fe3907
Publikováno v:
Journal of the Society of Materials Science, Japan. 71:903-909
Autor:
Akiko Hikoya, Katsuhiro Hosono, Kaoru Ono, Shinji Arai, Nobutaka Tachibana, Kentaro Kurata, Kaoruko Torii, Miho Sato, Hirotomo Saitsu, Tsutomu Ogata, Yoshihiro Hotta
Publikováno v:
Ophthalmic Genetics. :1-6
Autor:
Yusuke Morino, Misae Otoyama, Toyoki Okumura, Kentaro Kuratani, Naoya Shibata, Daisuke Ito, Hikaru Sano
Publikováno v:
ACS Omega, Vol 9, Iss 37, Pp 38523-38531 (2024)
Externí odkaz:
https://doaj.org/article/5a349af0bca7428086b0b74a85496396