Zobrazeno 1 - 10 of 18 pro vyhledávání: '"Noriko Oishi"'
1
Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient
Autor: Daiki Kubota, Kunihiko Yamaki, Shuhei Kameya, Tsutomu Igarashi, Kaori Maruyama, Noriko Oishi, Kiyoko Gocho, Yukito Takeda, Hiroshi Takahashi
Publikováno v: Journal of Nippon Medical School. 87:92-99
Background The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-r
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::327677fe84771469cb29c7113a2cbb9c
https://doi.org/10.1272/jnms.jnms.2020_87-207
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2
Novel GUCY2D Variant (E843Q) at Mutation Hotspot Associated with Macular Dystrophy in a Japanese Patient
Autor: Takeda, Yukito, Kubota, Daiki, Oishi, Noriko, Maruyama, Kaori, Gocho, Kiyoko, Yamaki, Kunihiko, Igarashi, Tsutomu, Takahashi, Hiroshi, Yukito, Takeda, Daiki, Kubota, Noriko, Oishi, Kaori, Maruyama, Kiyoko, Gocho, Kunihiko, Yamaki, Tsutomu, Igarashi, Hiroshi, Takahashi, Shuhei, Kameya
Publikováno v: Journal of Nippon Medical School. 87(2):92-99
The GUCY2D (guanylate cyclase 2D) gene encodes a photoreceptor guanylate cyclase (GC-E), that is predominantly expressed in the cone outer segments. Mutations in the GUCY2D lead to severe retinal disorders such as autosomal dominant cone-rod dystroph
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::98e5f8e2bae4079fd9ffabc7ffdf5017
http://id.nii.ac.jp/1645/00000488/
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3
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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4
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN
Autor: Kentaro Kurata, Takuma Futami, Daiki Kubota, Tomokazu Matsuura, Takeshi Iwata, Kazutoshi Yoshitake, Koichiro Higasa, Katsuhiro Hosono, Hiroyuki Kondo, Takaaki Hayashi, Tadashi Nakano, Noriko Oishi, Yoshihiro Hotta, Shuhei Kameya, Kei Mizobuchi
Publikováno v: Journal of Clinical Medicine, Vol 10, Iss 2265, p 2265 (2021)
Journal of Clinical Medicine
Volume 10
Issue 11
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::68d5056a37dd9312fcab455aef948cb1
https://www.mdpi.com/2077-0383/10/11/2265
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5
Genotype-Phenotype Correlations in
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
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://explore.openaire.eu/search/publication?articleId=pmid________::1e6e5d1e30b5247f299d2d71a0cc5107
https://pubmed.ncbi.nlm.nih.gov/34073704
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6
Multimodal imaging analysis of macular dystrophy in patient with maternally inherited diabetes and deafness (MIDD) with m.3243AG mutation
Autor: Noriko Oishi, Daiki Kubota, Hiroshi Takahashi, Mika Hayashi, Yukito Takeda, Kunihiko Yamaki, Kenji Nakamoto, Shuhei Kameya, Tsutomu Igarashi, Kiyoko Gocho
Publikováno v: Ophthalmic genetics. 42(3)
Purpose: Maternally inherited diabetes and deafness (MIDD) is caused by a heteroplasmic m.3243A>G mutation in the mitochondrial DNA. The main ocular feature in MIDD is macular dystrophy. The purpose of this study was to identify the phenotypical char
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f194815d3b01a3f580feee4d5ecd6fd
https://pubmed.ncbi.nlm.nih.gov/33541179
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7
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by
Autor: Daiki, Kubota, Kaori, Matsumoto, Mika, Hayashi, Noriko, Oishi, Kiyoko, Gocho, Kunihiko, Yamaki, Shinichiro, Kobayakawa, Tsutomu, Igarashi, Hiroshi, Takahashi, Shuhei, Kameya
Publikováno v: Ophthalmic genetics. 41(6)
The hexokinase 1 (Three generations of one family with autosomal dominant retinitis pigmentosa were examined. Whole exome sequencing was performed on the DNA. Fundus imaging by an adaptive optics fundus camera was used to obtain high-resolution photo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4b1e52411819487315bc426eb31056f8
https://pubmed.ncbi.nlm.nih.gov/32814480
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8
High-resolution photoreceptor imaging analysis of patients with autosomal dominant retinitis pigmentosa (adRP) caused by HK1 mutation
Autor: Shuhei Kameya, Mika Hayashi, Daiki Kubota, Kaori Matsumoto, Shinichiro Kobayakawa, Kiyoko Gocho, Noriko Oishi, Kunihiko Yamaki, Hiroshi Takahashi, Tsutomu Igarashi
Publikováno v: Ophthalmic Genetics
Ophthalmic Genetics, Taylor & Francis, 2020, pp.1-10. ⟨10.1080/13816810.2020.1810284⟩
International audience; Purpose: The hexokinase 1 (HK1) gene encodes one of the four human hexokinases that play essential roles in glucose metabolism. Recently, several cases of E847K mutation in the HK1 gene were reported to cause inherited retinal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9889b0e3f96f9a4329f72dd92077e00
https://hal.sorbonne-universite.fr/hal-02935407/document
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10
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
Autor: Kazuki Kuniyoshi, Daisuke Iejima, Kazutoshi Yoshitake, Kaoru Fujinami, Kazushige Tsunoda, Masayoshi Iwaki, Shinji Ueno, Shuhei Kameya, Kazuma Oku, Atsushi Hiyoshi, Kei Shinoda, Eiichi Uchio, Nobuhisa Nao-i, Mineo Kondo, Atsushi Mizota, Hiroko Terasaki, Takeshi Morimoto, Noriko Oishi, Shunji Kusaka, Tadashi Nakano, Akiko Iwata, Takeshi Iwata, Satoshi Katagiri, Hiroyuki Kondo, Takaaki Hayashi
Publikováno v: Human Genome Variation, Vol 6, Iss 1, Pp 1-6 (2019)
Human Genome Variation
X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d019782e5165c55a55cc3f821519c4c6
https://doi.org/10.1038/s41439-018-0034-6
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