Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Toshiyuki Seto"'
Autor:
Hideki Uedono, Katsuhito Mori, Shinya Nakatani, Kohei Watanabe, Rino Nakaya, Fumiyuki Morioka, Kazuma Sone, Chie Ono, Junko Hotta, Akihiro Tsuda, Naoya Morisada, Toshiyuki Seto, Kandai Nozu, Masanori Emoto
Publikováno v:
Case Reports in Nephrology and Dialysis, Vol 14, Iss 1, Pp 1-9 (2024)
Introduction: Alport syndrome (AS) is a hereditary, progressive kidney disease characterized by structural abnormalities and dysfunction of the glomerular basement membrane (GBM). AS is classified as X-linked, autosomal, and digenic. The number of ca
Externí odkaz:
https://doaj.org/article/f5a7078a2df046aa9981ea1649ec053c
Autor:
Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract Oculofaciocardiodental syndrome is caused by variants in the BCL6 corepressor (BCOR) gene. We identified a novel heterozygous frameshift variant, NM_001123385.2(BCOR):c.2326del, that arose de novo in a Japanese girl with characteristic facia
Externí odkaz:
https://doaj.org/article/0c330a9423084e169edb2dba82c09105
Autor:
Kazuyoshi Tomita, Shungo Okamoto, Toshiyuki Seto, Takashi Hamazaki, Sairei So, Tatsuyoshi Yamamoto, Kazunori Tanizawa, Hiroyuki Sonoda, Yuji Sato
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 9-14 (2021)
Abstract Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be
Externí odkaz:
https://doaj.org/article/dd2fb638d2424084942f95fea4b0ba8a
Autor:
Hiroki Maruyama, Atsumi Taguchi, Mariko Mikame, Atsushi Izawa, Naoki Morito, Kazufumi Izaki, Toshiyuki Seto, Akifumi Onishi, Hitoshi Sugiyama, Norio Sakai, Kenji Yamabe, Yukio Yokoyama, Satoshi Yamashita, Hiroshi Satoh, Shigeru Toyoda, Michihiro Hosojima, Yumi Ito, Ryushi Tazawa, Satoshi Ishii
Publikováno v:
Current Issues in Molecular Biology, Vol 43, Iss 1, Pp 389-404 (2021)
Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease proban
Externí odkaz:
https://doaj.org/article/b772c007d4b741eca470f621bcdfd666
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100816- (2021)
Summary: We investigated the decline of activities of daily living with symptomatic progression in patients with mucopolysaccharidosis type II (MPS II) and investigated the associated factors. Clinical data were retrospectively collected from the med
Externí odkaz:
https://doaj.org/article/57e804c9c44b4b0badb8e3dedd45f9fc
Autor:
Mitsuyo Maeda, Toshiyuki Seto, Chiho Kadono, Hideto Morimoto, Sachiho Kida, Mitsuo Suga, Motohiro Nakamura, Yosky Kataoka, Takashi Hamazaki, Haruo Shintaku
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 23, p 5829 (2019)
Mucopolysaccharidosis type II (MPS II) is a rare lysosomal storage disease (LSD) involving a genetic error in iduronic acid-2-sulfatase (IDS) metabolism that leads to accumulation of glycosaminoglycans within intracellular lysosomes. The primary trea
Externí odkaz:
https://doaj.org/article/f40fb95e55ad42a1b8e2c0f7662080e3
Autor:
Saya Koh, Takehiro Uda, Noritsugu Kunihiro, Ichiro Kuki, Takeshi Inoue, Toshiyuki Kawashima, Hiroshi Uda, Ryoko Umaba, Kosuke Nakajo, Yoko Nakanishi, Satoru Sakuma, Toshiyuki Seto, Shin Okazaki, Hisashi Kawawaki, Takeo Goto
Publikováno v:
Journal of Neurosurgery: Pediatrics. 29:693-699
OBJECTIVE Surgery is a treatment option for medically intractable epileptic spasms (ESs). However, outcomes of ES after surgery are not well understood, especially when surgeries aimed at seizure palliation are included. The purpose of the present st
Autor:
Junko Hotta, Yukiko Jogu, Haruka Bamba, Yasuhiro Izumiya, Masaharu Kudo, Takumi Imai, Hitoshi Sakuraba, Takashi Hamazaki, Toshiyuki Seto
Background: Fabry disease (FD) is a lysosomal storage disease caused by a deficit of α-galactosidase A (GAL). Recently, plasma globotriaosylsphingosine (lyso-Gb3), a pathogenic analogue of a substrate of GAL, has been suggested as a potential biomar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2d1f09f4df70b06c0983bedf3fc335c8
https://doi.org/10.21203/rs.3.rs-2372092/v1
https://doi.org/10.21203/rs.3.rs-2372092/v1
Autor:
Tatsuyoshi Yamamoto, Takashi Hamazaki, Yuji Sato, Sairei So, Kazunori Tanizawa, Hiroyuki Sonoda, Toshiyuki Seto, Kazuyoshi Tomita, Shungo Okamoto
Publikováno v:
JIMD Reports
JIMD Reports, Vol 62, Iss 1, Pp 9-14 (2021)
JIMD Reports, Vol 62, Iss 1, Pp 9-14 (2021)
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked recessive lysosomal storage disease caused by a mutation in the IDS gene and characterized by systemic accumulations of glycosaminoglycans. Its somatic symptoms can be relieved
Autor:
Naohiro, Yamamoto, Shin, Okazaki, Ichiro, Kuki, Naoki, Yamada, Shizuka, Nagase, Megumi, Nukui, Takeshi, Inoue, Rie, Kawakita, Tohru, Yorifuji, Takao, Hoshina, Toshiyuki, Seto, Toshiyuki, Yamamoto, Hisashi, Kawawaki
Publikováno v:
Epileptic disorders : international epilepsy journal with videotape. 24(3)
17p13.1-2 microdeletion syndrome is a congenital anomaly syndrome with characteristic facial features and multiple malformations. The prevalence of epilepsy with 17p13.1-2 microdeletion is low, with only one case reported for late-onset spasms. Late-