Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Takenori, Tozawa"'
Autor:
Taro Matsuoka, Takeshi Yoshida, Kengo Kora, Naoko Yano, Yoshihiro Taura, Takashi Nakamura, Takenori Tozawa, Jun Mori, Tomohiro Chiyonobu
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Cockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein
Externí odkaz:
https://doaj.org/article/26fe87f192c94ebb8114c4eeffd3ee2f
Autor:
Rei Takada, Takenori Tozawa, Takumi Yamanaka, Masaharu Moroto, Tomoko Iehara, Tomohiro Chiyonobu
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Previous reports have shown that a gain of the chromosome 9 short arm (9p) is associated with choroid plexus hyperplasia (CPH). Furthermore, CPH can lead to communicating hydrocephalus; however, no cases of CPH with 9p gain requiring choroid
Externí odkaz:
https://doaj.org/article/648d961b6a534d6497ddff2b294b1010
Autor:
Yoshihiro Taura, Takenori Tozawa, Kenichi Isoda, Satori Hirai, Tomohiro Chiyonobu, Naoko Yano, Takahiro Hayashi, Takeshi Yoshida, Tomoko Iehara
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Pathogenic variants in the HIBCH gene cause HIBCH deficiency, leading to mitochondrial disorders associated with valine metabolism. Patients typically present with symptoms such as developmental regression/delay, encephalopathy, hypotonia an
Externí odkaz:
https://doaj.org/article/0f3984c73b004254a62b9126136bd3f9
Autor:
Jun Mori, Tatsuji Hasegawa, Yosuke Miyamoto, Kazumasa Kitamura, Hidechika Morimoto, Takenori Tozawa, Ritsuko Kimata Pooh, Tomohiro Chiyonobu
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-4 (2022)
Abstract The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with a de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented with congenital hypothyroidism in additi
Externí odkaz:
https://doaj.org/article/573b0eba52544cbdbb015a4a650690f4
Autor:
Takenori Tozawa, Akira Nishimura, Tamaki Ueno, Akane Shikata, Yoshihiro Taura, Takeshi Yoshida, Naoko Nakagawa, Takahito Wada, Shinji Kosugi, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Tomohiro Chiyonobu
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-5 (2021)
Abstract Most patients with homozygous or compound heterozygous pathogenic ACO2 variants present with muscular hypotonia features, namely, infantile cerebellar-retinal degeneration. Recently, two studies reported rare familial cases of ACO2 variants
Externí odkaz:
https://doaj.org/article/83ca5c3dcbb4492cb673aafbd329d09a
Autor:
Sotaro, Kanai, Masayoshi, Oguri, Tohru, Okanishi, Yosuke, Miyamoto, Masanori, Maeda, Kotaro, Yazaki, Ryuki, Matsuura, Takenori, Tozawa, Satoru, Sakuma, Tomohiro, Chiyonobu, Shin-Ichiro, Hamano, Yoshihiro, Maegaki
Publikováno v:
Clinical Neurophysiology. 144:83-90
This study aimed to determine the correlation between outcomes following adrenocorticotrophic hormone (ACTH) therapy and measurements of relative power spectrum (rPS), weighted phase lag index (wPLI), and graph theoretical analysis on pretreatment el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9216ce44bdb4c19cc8e6ca91e93c37e
https://doi.org/10.1016/j.clinph.2022.10.004
https://doi.org/10.1016/j.clinph.2022.10.004
Autor:
Masafumi Morimoto, Tomohiro Chiyonobu, Hajime Hosoi, Tatsuji Hasegawa, Kei Yamada, Takenori Tozawa, Yui Zen, Satoshi Sakaue, Koji Sakai
Publikováno v:
Pediatrics International. 63:1327-1333
BACKGROUND Few studies have examined the effect of low-grade intraventricular hemorrhage (IVH) on the white matter in the cerebellum and its association with neurodevelopment. We evaluated cerebellar white matter at term-equivalent age (TEA) in prete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa64f165bd636b6b3e2321b34d6ffa45
https://doi.org/10.1111/ped.14691
https://doi.org/10.1111/ped.14691
Autor:
Kayoko Saito, Yasuhiro Takeshima, Takenori Tozawa, Hisahide Nishio, Yuya Takahashi, Hiroyuki Awano, Toshio Saito, Tomoyoshi Shiroshita, Masakazu Shinohara, Tomoyuki Shimazu, Yasufumi Hidaka, Yoriko Noguchi, Shiro Ozasa, Yogik Onky Silvana Wijaya, Takeshi Inoue, Naoya Morisada, Tomohiro Chiyonobu, Takushi Inoue, Emma Tabe Eko Niba, Atsushi Yokoyama, Mawaddah Ar Rohmah, Kentaro Okamoto
Publikováno v:
Brain and Development. 43:745-758
Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenoty
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47688e4ebd027b9b9691cc84c151baaf
https://doi.org/10.1016/j.braindev.2021.03.006
https://doi.org/10.1016/j.braindev.2021.03.006
Autor:
Eisuke Ichise, Satoshi Yamashita, Yoshihiro Taura, Takenori Tozawa, Hideyuki Okano, Norimichi Higurashi, Michiko Yoshida, Masafumi Morimoto, Tomohiro Chiyonobu, Shinichi Hirose, Toshiyuki Yamamoto, Mitsuru Ishikawa, Mami Shibata, Yasuyoshi Tanaka
Publikováno v:
Human Molecular Genetics. 30:1337-1348
Syntaxin-binding protein 1 (STXBP1; also called MUNC18–1), encoded by STXBP1, is an essential component of the molecular machinery that controls synaptic vesicle docking and fusion. De novo pathogenic variants of STXBP1 cause a complex set of neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89c66ffc2206718a11beec4b509226fd
https://doi.org/10.1093/hmg/ddab113
https://doi.org/10.1093/hmg/ddab113
Autor:
Kozue Shiomi, Harutsugu Tatebe, Takahiko Tokuda, Takenori Tozawa, Tomohiro Chiyonobu, Hisahide Nishio, Takashi Kasai
Publikováno v:
Brain and Development. 42:311-314
Background In July 2018, a rare and serious adverse effect (AE), namely, communicating hydrocephalus unrelated to meningitis or bleeding, was reported in relation to five patients treated with nusinersen for spinal muscular atrophy (SMA). Some patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4ee0c5c488b985ee718b5901e4b060d
https://doi.org/10.1016/j.braindev.2019.12.006
https://doi.org/10.1016/j.braindev.2019.12.006