A Japanese patient with neonatal biotin-responsive basal ganglia disease

Authors: Mizuki Kobayashi, Yuichi Suzuki, Maki Nodera, Ayako Matsunaga, Masakazu Kohda, Yasushi Okazaki, Kei Murayama, Takanori Yamagata, Hitoshi Osaka

Source: Human Genome Variation, Vol 9, Iss 1, Pp 1-3 (2022)

Subject Terms: Genetics, QH426-470, Life, QH501-531

File Description: electronic resource

Relation: https://doaj.org/toc/2054-345X

Access URL: https://doaj.org/article/db0f904f9c1c400dad254b89483a2bdf

A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

Authors: Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Takuya Fushimi, Masaru Shimura, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/2a76a814c3ba4c25adefbc26eb47bb7d

Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Authors: 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

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/155589ae842344c1bf48522b1d15cb79

Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples.

Authors: 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

Source: PLoS ONE, Vol 17, Iss 12, p e0278927 (2022)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/4734610f9f6146649c0fb442a7e2ce18

Valine metabolites analysis in ECHS1 deficiency

Authors: 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

Source: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100809- (2021)

Subject Terms: Short-chain enoyl-CoA hydratase deficiency, Leigh syndrome, Diet therapy, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S221442692100104X; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/ade6758023d041699e4aaf4d74f60a8f

Author Correction: Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan

Authors: 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

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-2 (2021)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/70a42ea93a774ef6885c77b549ac60e9

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Authors: Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

Source: Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)

Subject Terms: cristae, MICOS complex, mitochondrial disease, mitochondrial DNA depletion syndrome, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/e50b0a400ee94b08aec7f77989654e0e

Mitochondrial complex deficiency by novel compound heterozygous TMEM70 variants and correlation with developmental delay, undescended testicle, and left ventricular noncompaction in a Japanese patient: A case report

Authors: 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

Source: Clinical Case Reports, Vol 7, Iss 3, Pp 553-557 (2019)

Subject Terms: cardiomyopathy, mitochondrial disease, TMEM70, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0904

Access URL: https://doaj.org/article/1fd8304463224b94aef250141e1ac900

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

Authors: 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

Source: PLoS Genetics, Vol 12, Iss 1, p e1005679 (2016)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4704781?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/158105bef6724bed92af4dd632668bf3

Correction: A Genome-Wide Association Study for Diabetic Retinopathy in a Japanese Population: Potential Association with a Long Intergenic Non-Coding RNA.

Authors: 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

Source: PLoS ONE, Vol 10, Iss 4, p e0126789 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4409015?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/16f962b1392848f8a6f203cc7173b26a

A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.

Authors: 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

Source: PLoS ONE, Vol 9, Iss 11, p e111715 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/2c8258329fa24c00abd347096f4fcf40

Homozygosity mapping on homozygosity haplotype analysis to detect recessive disease-causing genes from a small number of unrelated, outbred patients.

Authors: Koichi Hagiwara, Hiroyuki Morino, Jun Shiihara, Tomoaki Tanaka, Hitoshi Miyazawa, Tomoko Suzuki, Masakazu Kohda, Yasushi Okazaki, Kuniaki Seyama, Hideshi Kawakami

Source: PLoS ONE, Vol 6, Iss 9, p e25059 (2011)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3176806?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/30721c9c133d480b9ba089b1f354d12f

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Identification of a Japanese Lynch syndrome patient with large deletion in the 3' region of the EPCAM gene.

Authors: Hidetaka Eguchi, Kensuke Kumamoto, Okihide Suzuki, Masakazu Kohda, Yuhki Tada, Yasushi Okazaki, Hideyuki Ishida

Source: Japanese Journal of Clinical Oncology; Feb2016, Vol. 46 Issue 2, p178-184, 7p

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