Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion

Por Hara, Katsunori, Akahori, Masakazu, Tanito, Masaki, Kaidzu, Sachiko, Ohira, Akihiro, Iwata, Takeshi
Publicado em 2011

Two siblings with late-onset cone–rod dystrophy and no visible macular degeneration

Por Sakuramoto, Hiroyuki, Kuniyoshi, Kazuki, Tsunoda, Kazushige, Akahori, Masakazu, Iwata, Takeshi, Shimomura, Yoshikazu
Publicado em 2013

LOXL1 variants in elderly Japanese patients with exfoliation syndrome/glaucoma, primary open-angle glaucoma, normal tension glaucoma, and cataract

Por Tanito, Masaki, Minami, Masayoshi, Akahori, Masakazu, Kaidzu, Sachiko, Takai, Yasuyuki, Ohira, Akihiro, Iwata, Takeshi
Publicado em 2008

Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

Por Katagiri, Satoshi, Yoshitake, Kazutoshi, Akahori, Masakazu, Hayashi, Takaaki, Furuno, Masaaki, Nishino, Jo, Ikeo, Kazuho, Tsuneoka, Hiroshi, Iwata, Takeshi
Publicado em 2013

Retinal angiomatous proliferation associated with risk alleles of ARMS2/HTRA1 gene polymorphisms in Japanese patients

Por Ohkuma, Yasuhiro, Hayashi, Takaaki, Sakai, Tsutomu, Watanabe, Akira, Yamada, Hisashi, Akahori, Masakazu, Itabashi, Takeshi, Iwata, Takeshi, Noda, Toru, Tsuneoka, Hiroshi
Publicado em 2014

VAV2 and VAV3 as Candidate Disease Genes for Spontaneous Glaucoma in Mice and Humans

Por Fujikawa, Keiko, Iwata, Takeshi, Inoue, Kaoru, Akahori, Masakazu, Kadotani, Hanako, Fukaya, Masahiro, Watanabe, Masahiko, Chang, Qing, Barnett, Edward M., Swat, Wojciech
Publicado em 2010

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa

Por Katagiri, Satoshi, Hayashi, Takaaki, Akahori, Masakazu, Itabashi, Takeshi, Nishino, Jo, Yoshitake, Kazutoshi, Furuno, Masaaki, Ikeo, Kazuho, Okada, Tetsuji, Tsuneoka, Hiroshi, Iwata, Takeshi
Publicado no J Ophthalmol (2014)

A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms

Por Kabuto, Takenori, Takahashi, Hisatomo, Goto-Fukuura, Yoko, Igarashi, Tsutomu, Akahori, Masakazu, Kameya, Shuhei, Iwata, Takeshi, Mizota, Atsushi, Yamaki, Kunihiko, Miyake, Yozo, Takahashi, Hiroshi
Publicado em 2012

Dominant Mutations in RP1L1 Are Responsible for Occult Macular Dystrophy

Por Akahori, Masakazu, Tsunoda, Kazushige, Miyake, Yozo, Fukuda, Yoko, Ishiura, Hiroyuki, Tsuji, Shoji, Usui, Tomoaki, Hatase, Tetsuhisa, Nakamura, Makoto, Ohde, Hisao, Itabashi, Takeshi, Okamoto, Haru, Takada, Yuichiro, Iwata, Takeshi
Publicado em 2010

Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice

Por Chi, Zai-Long, Akahori, Masakazu, Obazawa, Minoru, Minami, Masayoshi, Noda, Toru, Nakaya, Naoki, Tomarev, Stanislav, Kawase, Kazuhide, Yamamoto, Tetsuya, Noda, Setsuko, Sasaoka, Masaki, Shimazaki, Atsushi, Takada, Yuichiro, Iwata, Takeshi
Publicado em 2010

Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population

Por Goto, Asako, Akahori, Masakazu, Okamoto, Haru, Minami, Masayoshi, Terauchi, Naoki, Haruhata, Yuji, Obazawa, Minoru, Noda, Toru, Honda, Miki, Mizota, Atsushi, Tanaka, Minoru, Hayashi, Takaaki, Tanito, Masaki, Ogata, Naoko, Iwata, Takeshi
Publicado em 2009

Molecular characteristics of four Japanese cases with KCNV2 retinopathy: Report of novel disease-causing variants

Por Fujinami, Kaoru, Tsunoda, Kazushige, Nakamura, Natsuko, Kato, Yu, Noda, Toru, Shinoda, Kei, Tomita, Kaoru, Hatase, Tetsuhisa, Usui, Tomoaki, Akahori, Masakazu, Itabashi, Takeshi, Iwata, Takeshi, Ozawa, Yoko, Tsubota, Kazuo, Miyake, Yozo
Publicado em 2013

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Por Katagiri, Satoshi, Akahori, Masakazu, Sergeev, Yuri, Yoshitake, Kazutoshi, Ikeo, Kazuho, Furuno, Masaaki, Hayashi, Takaaki, Kondo, Mineo, Ueno, Shinji, Tsunoda, Kazushige, Shinoda, Kei, Kuniyoshi, Kazuki, Tsurusaki, Yohinori, Matsumoto, Naomichi, Tsuneoka, Hiroshi, Iwata, Takeshi
Publicado em 2014