Zobrazeno 1 - 10
of 301
pro vyhledávání: '"Hitoshi, Osaka"'
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract We report a case of severe Aicardi–Goutières syndrome caused by a novel homozygous RNASEH2B intronic variant, NC_000013.10(NM_024570.4):c.65-13G > A p.Glu22Valfs*5. The patient was born with pseudo-TORCH symptoms, including intracranial c
Externí odkaz:
https://doaj.org/article/ffe1d7e0e5be43fbb438ced248d6a71b
Autor:
Mizuki Kobayashi, Akihiko Miyauchi, Eriko F. Jimbo, Natsumi Oishi, Shiho Aoki, Miyuki Watanabe, Yasushi Yoshikawa, Yutaka Akiyama, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Mitochondrial diseases are mainly caused by dysfunction of mitochondrial respiratory chain complexes and have a variety of genetic variants or phenotypes. There are only a few approved treatments, and fundamental therapies are yet to be deve
Externí odkaz:
https://doaj.org/article/e4636980387a48a3b5392e1c6ad4f86d
Autor:
Akihiko Miyauchi, Chika Watanabe, Naoya Yamada, Eriko F. Jimbo, Mizuki Kobayashi, Natsumi Ohishi, Atsuko Nagayoshi, Shiho Aoki, Yoshihito Kishita, Akira Ohtake, Nobuhiko Ohno, Masafumi Takahashi, Takanori Yamagata, Hitoshi Osaka
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)
Abstract Originally, apomorphine was a broad-spectrum dopamine agonist with an affinity for all subtypes of the Dopamine D1 receptor to the D5 receptor. We previously identified apomorphine as a potential therapeutic agent for mitochondrial diseases
Externí odkaz:
https://doaj.org/article/4c4ab5e04fb84b9b860c3d9589244955
Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant
Autor:
Ayumi Matsumoto, Shintaro Kano, Natsumi Kobayashi, Mitsuru Matsuki, Rieko Furukawa, Hirokazu Yamagishi, Hiroki Yoshinari, Waka Nakata, Hiroko Wakabayashi, Hidetoshi Tsuda, Kazuhisa Watanabe, Hironori Takahashi, Takanori Yamagata, Takayoshi Matsumura, Hitoshi Osaka, Harushi Mori, Sadahiko Iwamoto
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene, and female carriers are usually asymptomatic. We describe a 7-month-old female patient with severe intellectual disability, epilepsy, and low
Externí odkaz:
https://doaj.org/article/1d36231f86614acb8ca5b90f72cc25d5
Publikováno v:
PCN Reports, Vol 3, Iss 1, Pp n/a-n/a (2024)
Abstract This review focuses on the development of therapeutic interventions for Alzheimer's dementia. While established treatments targeted acetylcholine and NMDA receptors, there is a growing demand for innovative therapies as the aging population
Externí odkaz:
https://doaj.org/article/898296eb85b24212b50e7bf443c53f12
Autor:
Hiroshi Maeda, Kouichi Miura, Kenichi Aizawa, Oyunjargal Bat-Erdene, Miho Sashikawa-Kimura, Eri Noguchi, Masako Watanabe, Naoya Yamada, Hitoshi Osaka, Naoki Morimoto, Hironori Yamamoto
Publikováno v:
Antioxidants, Vol 13, Iss 7, p 805 (2024)
The role of ferroptosis in steatohepatitis development is largely unknown. We investigated (1) whether hepatocyte ferroptosis occurs in a gene-modified steatohepatitis model without modifying dietary components, (2) whether ferroptosis occurs at an e
Externí odkaz:
https://doaj.org/article/5891026946694f0a9fb4b82f3f8875c0
Autor:
Taiju Hyuga, Kota Fujimoto, Daiki Hashimoto, Kazuya Tanabe, Taro Kubo, Shigeru Nakamura, Yuko Ueda, Eriko Fujita-Jimbo, Kazuhiro Muramatsu, Kentaro Suzuki, Hitoshi Osaka, Shinichi Asamura, Kimihiko Moriya, Hideo Nakai, Gen Yamada
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract The post-surgical fluid leakage from the tubular tissues is a critical symptom after gastrointestinal or urinary tract surgeries. Elucidating the mechanism for such abnormalities is vital in surgical and medical science. The exposure of the
Externí odkaz:
https://doaj.org/article/69cc720f13e44973848031dcdffdbf30
Autor:
Hitoshi Osaka, Tetsufumi Kanazawa
Publikováno v:
PCN Reports, Vol 2, Iss 4, Pp n/a-n/a (2023)
Abstract The domain of psychiatric drug development is currently witnessing a notable transformation, with a paramount emphasis on targeting nonmonoamine receptors and exploring inventive mechanisms of action. This paper presents an overview of the o
Externí odkaz:
https://doaj.org/article/c6137e9ecb7c47f4a90ca79ed5d1ae93
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 4, p 2325 (2024)
Nicotinamide adenine dinucleotide (NAD) is a cofactor in redox reactions and an essential mediator of energy metabolism. The redox balance between NAD+ and NADH affects various diseases, cell differentiation, and aging, and in recent years there has
Externí odkaz:
https://doaj.org/article/b6465b500dc5473bb2411f5490787131
Autor:
Toshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, Atsushi Fujita, Yuri Uchiyama, Rie Seyama, Eriko Koshimizu, Satoko Miyatake, Takeshi Mizuguchi, Satoru Takeda, Naomichi Matsumoto
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract We report on a patient with a distal 16.4-Mb duplication at 2q36.3-qter, who presented with severe intellectual disability, microcephaly, brachycephaly, prominent forehead, hypertelorism, prominent eyes, thin upper lip, and progenia. Copy nu
Externí odkaz:
https://doaj.org/article/1d597910dd414d9c945f428b1ac217a6