Zobrazeno 1 - 10
of 249
pro vyhledávání: '"Kazushige, Tsunoda"'
Autor:
Akiko Suga, Kei Mizobuchi, Taiga Inooka, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kazuki Kuniyoshi, Yosuke Kawai, Yosuke Omae, Katsushi Tokunaga, Takaaki Hayashi, Shinji Ueno, Takeshi Iwata, Hatsue Ishibashi-Ueda, Tsutomu Tomita, Michio Noguchi, Ayako Takahashi, Yu-ichi Goto, Sumiko Yoshida, Kotaro Hattori, Ryo Matsumura, Aritoshi Iida, Yutaka Maruoka, Hiroyuki Gatanaga, Masaya Sugiyama, Satoshi Suzuki, Kengo Miyo, Yoichi Matsubara, Akihiro Umezawa, Kenichiro Hata, Tadashi Kaname, Kouichi Ozaki, Haruhiko Tokuda, Hiroshi Watanabe, Shumpei Niida, Eisei Noiri, Koji Kitajima, Reiko Miyahara, Hideyuki Shimanuki
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101843- (2024)
Purpose: Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a transcription factor with ubiquitous expression. To improve the relatively low vari
Externí odkaz:
https://doaj.org/article/a0a40200ace245f49c062e5cf42c6c3b
Autor:
de Guimaraes, Thales A. C., Georgiou, Michalis, Robson, Anthony G., Kaoru Fujinami, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Mahroo, Omar A., Pontikos, Nikolas, Vargas, Maurício E., Thiadens, Alberta A. H. J., de Carvalho, Emanuel R., Xuan-Than-An Nguyen, Arno, Gavin, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Jiménez-Rolando, Belén, Martin-Merida, Maria Inmaculada
Publikováno v:
British Journal of Ophthalmology; Aug2024, Vol. 108 Issue 8, p1137-1144, 8p
Autor:
Masahiro Miura, Shuichi Makita, Yoshiaki Yasuno, Shinnosuke Azuma, Toshihiro Mino, Takaaki Hayashi, Shuhei Kameya, Kazushige Tsunoda
Publikováno v:
Medicine; 7/19/2024, Vol. 103 Issue 29, p1-8, 8p
Autor:
Kazuki Yamazawa, Kenji Shimizu, Hirofumi Ohashi, Hidenori Haruna, Satomi Inoue, Haruka Murakami, Tatsuo Matsunaga, Takeshi Iwata, Kazushige Tsunoda, Kaoru Fujinami
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract 2p15p16.1 microdeletion syndrome is a recently recognized congenital disorder characterized by developmental delay and dysmorphic features. RP2-associated retinal disorder (RP2-RD) is an X-linked inherited retinal disease with a childhood on
Externí odkaz:
https://doaj.org/article/1a70d1b9a71d4787b13f5b984bedb2c3
Autor:
Kazushige Tsunoda, Gen Hanazono
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 28, Iss , Pp 101706- (2022)
Purpose: To determine the changes in the microstructures of the photoreceptors in patients with autosomal recessive bestrophinopathy (ARB) by ultrahigh-resolution spectral-domain optical coherence tomography (UHR-SD-OCT). Methods: Five eyes of 4 pati
Externí odkaz:
https://doaj.org/article/7354f85a49e94667946e28aedbe9efb7
Autor:
Kazushige Tsunoda, Gen Hanazono
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 26, Iss , Pp 101490- (2022)
Purpose: To analyze the microstructures of the photoreceptor layer in detail in eyes with occult macular dystrophy (OMD, Miyake's disease) by ultrahigh-resolution spectral-domain optical coherence tomography (UHR-SD-OCT). Observations: Twenty-eight n
Externí odkaz:
https://doaj.org/article/7a244dc8c8f942ee8f30f1c9f98407cc
Publikováno v:
Case Reports in Ophthalmology, Vol 10, Iss 2, Pp 186-194 (2019)
We analyzed the effects of enzyme replacement therapy (ERT) on the visual acuity and visual fields of a patient with mucopolysaccharidosis type II, Hunter syndrome, with degeneration of the retina and abnormalities of the optic nerve. After the ERT,
Externí odkaz:
https://doaj.org/article/b5136a82fbd94e779831557eac624557
Autor:
Kei Mizobuchi, Satoshi Katagiri, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Kazuki Kuniyoshi, Reimi Mishima, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 13, Iss , Pp 110-115 (2019)
Purpose: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant. Methods: We performed comprehensive ophthalmic examinations. Whole exome sequencing analysis was use
Externí odkaz:
https://doaj.org/article/45bbd6012c0f4156a1a8a1408411f090
Autor:
Kei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, Kaoru Fujinami, Toshiaki Tachibana, Kazushige Tsunoda, Takeshi Iwata, Tadashi Nakano
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02‐kb deletion variant ho
Externí odkaz:
https://doaj.org/article/f2df278fa9aa48e9b8f93ef3e7ce7b26
Autor:
Akiko Suga, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kaoru Fujinami, Yozo Miyake, Kazuki Kuniyoshi, Takaaki Hayashi, Kei Mizobuchi, Shinji Ueno, Hiroko Terasaki, Taro Kominami, Nobuhisa Nao‐I, Go Mawatari, Atsushi Mizota, Kei Shinoda, Mineo Kondo, Kumiko Kato, Tetsuju Sekiryu, Makoto Nakamura, Sentaro Kusuhara, Hiroyuki Yamamoto, Shuji Yamamoto, Kiyofumi Mochizuki, Hiroyuki Kondo, Itsuka Matsushita, Shuhei Kameya, Takeo Fukuchi, Tetsuhisa Hatase, Masayuki Horiguchi, Yoshiaki Shimada, Atsuhiro Tanikawa, Shuichi Yamamoto, Gen Miura, Nana Ito, Akira Murakami, Takuro Fujimaki, Yoshihiro Hotta, Koji Tanaka, Takeshi Iwata
Publikováno v:
Human Mutation. 43:2251-2264
Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enroll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfcc4004071a45d33b0e85a7b3639efd
https://doi.org/10.1002/humu.24492
https://doi.org/10.1002/humu.24492