Zobrazeno 1 - 10 of 42 pro vyhledávání: '"Sachiko, Kikuchi"'
1
Novel homozygous in-frame deletion ofGNAT1gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family
Autor: Kiyoko Gocho, Daiki Kubota, Hiroshi Takahashi, Noriko Oishi, Atsushi Mizota, Tsutomu Igarashi, Takeshi Iwata, Shuhei Kameya, Nobuo Ishida, Sachiko Kikuchi, Kunihiko Yamaki
Publikováno v: Ophthalmic Genetics. 40:480-487
Background: The GNAT1 gene encodes the alpha-subunit of transducin in rod photoreceptors and is an important part of the phototransduction cascade. Defects in GNAT1 are very rare but have been identified in autosomal dominant and recessive congenital
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3c63387f141ccb1150cff43a633cdcb
https://doi.org/10.1080/13816810.2019.1686159
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3
Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families
Autor: Daiki Kubota, Akira Murakami, Shuhei Kameya, Kazutoshi Yoshitake, Sachiko Kikuchi, Atsushi Mizota, Takeshi Iwata, Kei Mizobuchi, Takaaki Hayashi, Tadashi Nakano
Publikováno v: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outc
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac9e851778b0cffc02ea4e09a1ccabb2
https://doi.org/10.1038/s41598-020-72623-1
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4
Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants
Autor: Shuhei Kameya, Kaoru Fujinami, Hiroko Terasaki, Takeshi Iwata, Taro Kominami, Kazushige Tsunoda, Shinji Ueno, Takaaki Hayashi, Sachiko Kikuchi, Azusa Kominami, Yasuki Ito, Ayami Nakanishi
Publikováno v: Ophthalmic Genetics. 39:255-262
Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab2b12632e6374bd2b1ee6133f18492
https://doi.org/10.1080/13816810.2017.1408846
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6
Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance
Autor: Yozo Miyake, Nikolas Pontikos, Sachiko Kikuchi, Hiroyuki Sakuramoto, Taro Kominami, Kaoru Fujinami, Kazuki Kuniyoshi, Lizhu Yang, Daiki Kubota, Xiao Liu, Gavin Arno, Kazutoshi Yoshitake, Shuhei Kameya, Hiroko Terasaki, Takeshi Iwata, Satoshi Katagiri, Takaaki Hayashi, Shinji Ueno, Yu Fujinami-Yokokawa, Kazushige Tsunoda, Ryuichi Ideta
Publikováno v: Investigative ophthalmologyvisual science. 60(10)
Purpose Cone/cone-rod dystrophy is a large group of retinal disorders with both phonotypic and genetic heterogeneity. The purpose of this study was to characterize the phenotype of eight patients from seven families harboring POC1B mutations in a coh
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea1b5c78bd86b3c34757d4f13cdea956
https://pubmed.ncbi.nlm.nih.gov/31390656
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Plný text Recenzováno Digitální knihovna AV ČR
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