Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Masakazu Kohda"'
Autor:
Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)
Abstract Biotin-responsive basal ganglia disease (BBGD) with SLC19A3 mutation was first reported in 1998, and over 30 mutations have been reported. We report a neonatal BBGD case with sudden-onset feeding difficulty and impaired consciousness. Enceph
Externí odkaz:
https://doaj.org/article/db0f904f9c1c400dad254b89483a2bdf
Autor:
Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Abstract Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leberʼs hereditary optic neuropathy (LHON) or dementia/d
Externí odkaz:
https://doaj.org/article/2a76a814c3ba4c25adefbc26eb47bb7d
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis o
Externí odkaz:
https://doaj.org/article/155589ae842344c1bf48522b1d15cb79
Autor:
Kuno Suzuki, Tatsuya Yamaguchi, Masakazu Kohda, Masami Tanaka, Hiroyuki Takemura, Mitsuru Wakita, Yoko Tabe, Shunsuke Kato, Motomi Nasu, Takashi Hashimoto, Shinji Mine, Nobuko Serizawa, Ko Tomishima, Akihito Nagahara, Takahisa Matsuda, Taiki Yamaji, Shoichiro Tsugane, Yutaka Saito, Hiroyuki Daiko, Takaki Yoshikawa, Ken Kato, Takuji Okusaka, Takahiro Ochiya, Yusuke Yamamoto, Shoji Yotsui, Takashi Yamamoto, Tomoyuki Yamasaki, Hiroshi Miyata, Masayoshi Yasui, Takeshi Omori, Kazuyoshi Ohkawa, Kenji Ikezawa, Tasuku Nakabori, Naotoshi Sugimoto, Toshihiro Kudo, Keiichi Yoshida, Masayuki Ohue, Takashi Nishizawa
Publikováno v:
PLoS ONE, Vol 17, Iss 12, p e0278927 (2022)
The relationship between the expression of microRNAs (miRNAs) in blood and a variety of diseases has been investigated. MiRNA-based liquid biopsy has attracted much attention, and cancer-specific miRNAs have been reported. However, the results of ana
Externí odkaz:
https://doaj.org/article/4734610f9f6146649c0fb442a7e2ce18
Autor:
Mari Kuwajima, Karin Kojima, Hitoshi Osaka, Yusuke Hamada, Eriko Jimbo, Miyuki Watanabe, Shiho Aoki, Ikuko Sato-Shirai, Keiko Ichimoto, Takuya Fushimi, Kei Murayama, Akira Ohtake, Masakazu Kohda, Yoshihito Kishita, Yukiko Yatsuka, Shumpei Uchino, Masakazu Mimaki, Noriko Miyake, Naomichi Matsumoto, Yasushi Okazaki, Tomomi Ogata, Takanori Yamagata, Kazuhiro Muramatsu
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)
Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced dystonia. More than 60 patients with this condition have been reported till date.
Externí odkaz:
https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f
Autor:
Keiichi Hirono, Fukiko Ichida, Natsuhito Nishio, Minako Ogawa‐Tominaga, Takuya Fushimi, Rene′ G. Feichtinger, Johannes A. Mayr, Masakazu Kohda, Yoshihito Kishita, Yasushi Okazaki, Akira Ohtake, Kei Murayama
Publikováno v:
Clinical Case Reports, Vol 7, Iss 3, Pp 553-557 (2019)
Key Clinical Message We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The ur
Externí odkaz:
https://doaj.org/article/1fd8304463224b94aef250141e1ac900
Autor:
Nana Akiyama, Masaru Shimura, Taro Yamazaki, Hiroko Harashima, Takuya Fushimi, Tomoko Tsuruoka, Tomohiro Ebihara, Keiko Ichimoto, Ayako Matsunaga, Megumi Saito-Tsuruoka, Yukiko Yatsuka, Yoshihito Kishita, Masakazu Kohda, Akira Namba, Yoshimasa Kamei, Yasushi Okazaki, Shinji Kosugi, Akira Ohtake, Kei Murayama
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)
Externí odkaz:
https://doaj.org/article/70a42ea93a774ef6885c77b549ac60e9
Autor:
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Mitochondrial DNA depletion syndrome (MTDPS) is part of a group of mitochondrial diseases characterized by a reduction in mitochondrial DNA copy number. Most MTDPS is caused by mutations in genes that disrupt deoxyribonucleotide m
Externí odkaz:
https://doaj.org/article/e50b0a400ee94b08aec7f77989654e0e
Autor:
Masakazu Kohda, Yoshimi Tokuzawa, Yoshihito Kishita, Hiromi Nyuzuki, Yohsuke Moriyama, Yosuke Mizuno, Tomoko Hirata, Yukiko Yatsuka, Yzumi Yamashita-Sugahara, Yutaka Nakachi, Hidemasa Kato, Akihiko Okuda, Shunsuke Tamaru, Nurun Nahar Borna, Kengo Banshoya, Toshiro Aigaki, Yukiko Sato-Miyata, Kohei Ohnuma, Tsutomu Suzuki, Asuteka Nagao, Hazuki Maehata, Fumihiko Matsuda, Koichiro Higasa, Masao Nagasaki, Jun Yasuda, Masayuki Yamamoto, Takuya Fushimi, Masaru Shimura, Keiko Kaiho-Ichimoto, Hiroko Harashima, Taro Yamazaki, Masato Mori, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Publikováno v:
PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)
Mitochondrial disorders have the highest incidence among congenital metabolic disorders characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic and genetic heterogeneity. Mutat
Externí odkaz:
https://doaj.org/article/158105bef6724bed92af4dd632668bf3
Autor:
Takuya Awata, Hisakuni Yamashita, Susumu Kurihara, Tomoko Morita-Ohkubo, Yumi Miyashita, Shigehiro Katayama, Keisuke Mori, Shin Yoneya, Masakazu Kohda, Yasushi Okazaki, Taro Maruyama, Akira Shimada, Kazuki Yasuda, Nao Nishida, Katsushi Tokunaga, Asako Koike
Publikováno v:
PLoS ONE, Vol 10, Iss 4, p e0126789 (2015)
Externí odkaz:
https://doaj.org/article/16f962b1392848f8a6f203cc7173b26a