Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Yukito Takeda"'
Autor:
Yukito Takeda1, Daiki Kubota1, Noriko Oishi1, Kaori Maruyama1, Kiyoko Gocho1, Kunihiko Yamaki1, Tsutomu Igarashi2, Hiroshi Takahashi2, Shuhei Kameya1 shuheik@nms.ac.jp
Publikováno v:
Journal of Nippon Medical School. 2020, Vol. 87 Issue 2, p92-99. 8p.
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
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
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