Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kohji Kato"'
Autor:
Yusuke Okuno, Shinji Saitoh, Noriko Nagai, Taichi Kato, Hidenori Yamamoto, Yoshiyuki Takahashi, Kohji Kato, Satoshi Hayano, Atsuto Onoda, Yoshie Fukasawa
Publikováno v:
International Journal of Cardiology. 326:81-87
Background A gain-of-function mutation in germline ABL1 causes a syndrome including congenital heart defects. However, the molecular mechanisms of this syndrome remain unknown. In this study, we found a novel ABL1 mutation in a Japanese family with v
Publikováno v:
Journal of Human Genetics. 66:491-498
CUL3 forms Cullin-Ring ubiquitin ligases (CRL) with Ring-box protein and BTB-adaptor proteins. A variety of BTB-adaptor proteins have been reported to interact with the N-terminus of CUL3, which makes it possible to recognize various substrates for d
Autor:
Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu
Publikováno v:
Brain and Development. 42:298-301
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. H
Autor:
Akio Kihara, Tadashi Kaname, Masahiro Kawaguchi, Yusuke Okuno, Kohji Kato, Hideki Muramatsu, Tomohiko Nakata, Hiroyuki Yamamoto, Hiroyuki Kidokoro, Jun Natsume, Takayuki Sassa
Publikováno v:
Brain and Development. 42:217-221
FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron ac
Autor:
Tadashi Kaname, Ken Inoue, Keiko Yamamoto-Shimojima, Kohji Kato, Hideki Muramatsu, Toshiyuki Yamamoto, Taichi Imaizumi, Yusuke Okuno, Yusuke Aoki
Publikováno v:
Journal of Human Genetics. 64:665-671
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosom
Autor:
Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya
Publikováno v:
Journal of Medical Genetics. 56:388-395
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disabil
Autor:
Yumiko Kasugai, Shinichiro Nakada, Takuya Ichimura, Mutsumi Yamane, Yoshiyuki Takahashi, Katsushi Tokunaga, Keitaro Matsuo, Kotaro Yuge, Hideki Muramatsu, Masao Nagasaki, Seiji Kito, Yuichiro Hara, Koichiro Higasa, Naomichi Matsumoto, Motoharu Hamada, Tomoo Ogi, Takayoshi Suganami, Yuko Kotani, Hirotoshi Sakaguchi, Yusuke Okuno, Shuichi Ozono, Norisato Mitsutake, Yosuke Kawai, Toshiro Kawakita, Yasuyoshi Oka, Fumihiko Matsuda, Taichi Hirano, Noriko Miyake, Yoriko Watanabe, Mayuko Shimada, Miyako Tanaka, Honoka Takeshima, Keiichi Isoyama, Hideo Kaneko, Tomoji Mashimo, Seiji Mizuno, Katsuhiro Hanada, Yuka Nakazawa, Masafumi Onodera, Kohji Kato, Seiji Kojima
Publikováno v:
Science Advances. 6
Rs671 in the aldehyde dehydrogenase 2 gene (ALDH2) is the cause of Asian alcohol flushing response after drinking. ALDH2 detoxifies endogenous aldehydes, which are the major source of DNA damage re...
Autor:
Kenichi Mishima, Tadashi Nagata, Hiroshi Kitoh, Yasunari Kamiya, Tomoo Ogi, Masaki Matsushita, Naoki Ishiguro, Kohji Kato, Miho Toyama
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Background Achondroplasia (ACH), the most common form of short‐limbed skeletal dysplasia, is caused by gain‐of‐function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. More than 97% of patients result from a heterozygous p.G3
Autor:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Autor:
Yoshinao Wada, Yohei Iguchi, Miho Toyama, Kohji Kato, Tomoo Ogi, Nobuhiko Okamoto, Ryoichi Nakamura, Kentaro Sahashi, Kunihiko Araki, Daisuke Ito, Kensuke Hamada, Tomohiko Nakamura, Masahisa Katsuno
Publikováno v:
Epilepsy Research. 164:106371
We report on familial 5 epilepsy patients with autosomal dominant inheritance of a novel heterozygous NUS1 frameshift mutation. All patients had cerebellar ataxia and tremor. Three patients were diagnosed with childhood absence epilepsy, 1 patient wi