Zobrazeno 1 - 10
of 224
pro vyhledávání: '"Satoshi, Narumi"'
Autor:
Satoshi Narumi
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 29, Iss 5, Pp 279-283 (2024)
Congenital hypothyroidism (CH), characterized by insufficient thyroid hormone production due to abnormalities in the hypothalamic-pituitary-thyroid axis, is the most common congenital endocrine disorder. We previously conducted comprehensive genetic
Externí odkaz:
https://doaj.org/article/433a972b32a84b34803f3174a583ca85
Autor:
Kotaro Narita, Hideki Muramatsu, Satoshi Narumi, Yuji Nakamura, Yusuke Okuno, Kyogo Suzuki, Motoharu Hamada, Naoya Yamaguchi, Atsushi Suzuki, Yosuke Nishio, Anna Shiraki, Ayako Yamamori, Yusuke Tsumura, Fumi Sawamura, Masahiro Kawaguchi, Manabu Wakamatsu, Shinsuke Kataoka, Kohji Kato, Hideyuki Asada, Tetsuo Kubota, Yukako Muramatsu, Hiroyuki Kidokoro, Jun Natsume, Seiji Mizuno, Tomohiko Nakata, Hidehito Inagaki, Naoko Ishihara, Takahiro Yonekawa, Akihisa Okumura, Tomoo Ogi, Seiji Kojima, Tadashi Kaname, Tomonobu Hasegawa, Shinji Saitoh, Yoshiyuki Takahashi
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract Recently, whole-exome sequencing (WES) has been used for genetic diagnoses of patients who remain otherwise undiagnosed. WES was performed in 177 Japanese patients with undiagnosed conditions who were referred to the Tokai regional branch of
Externí odkaz:
https://doaj.org/article/74fa295534ea4b28abbb48acc9d5d11c
Autor:
Tamami Miyagi, Koji Ueda, Masahiro Sugimoto, Takuya Yagi, Daisuke Ito, Rio Yamazaki, Satoshi Narumi, Yuhei Hayamizu, Hiroshi Uji-i, Masahiko Kuroda, Kohsuke Kanekura
Publikováno v:
iScience, Vol 26, Iss 6, Pp 106957- (2023)
Summary: Arginine-rich dipeptide repeat proteins (R-DPRs), poly(PR) and poly(GR), translated from the hexanucleotide repeat expansion in the amyotrophic lateral sclerosis (ALS)-causative C9ORF72 gene, contribute significantly to pathogenesis of ALS.
Externí odkaz:
https://doaj.org/article/59ae6387ef6c4d86af73cefd2acdcf7e
Autor:
Yoshiki Kubota, Takeshi Sato, Mai Matsuyama, Yoshihiro Maruo, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa
Publikováno v:
Clinical Pediatric Endocrinology; 2024, Vol. 33 Issue 3, p195-198, 4p
Autor:
Yuki Kawashima-Sonoyama, Keisuke Okuno, Tomotsune Dohmoto, Kanako Tanase-Nakao, Satoshi Narumi, Noriyuki Namba
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially
Externí odkaz:
https://doaj.org/article/62f1f29e2ac4411caaa6ff479889244e
Autor:
Satoshi Narumi, Tetsu Ohnuma, Kenji Takehara, Naho Morisaki, Kevin Y. Urayama, Tomoyuki Hattori
Publikováno v:
npj Digital Medicine, Vol 3, Iss 1, Pp 1-5 (2020)
Abstract It has been observed that growth velocity of toddlers and school children shows seasonal variation, while such seasonality is unknown in infants. The aim of this study was to examine whether growth velocity (length and weight) of infants dif
Externí odkaz:
https://doaj.org/article/f1780e06dff44d89a5922280bdeb9e74
Autor:
Sho Ishiwa, Koichi Kamei, Kanako Tanase-Nakao, Shinsuke Shibata, Kunihiro Matsunami, Ichiro Takeuchi, Mai Sato, Kenji Ishikura, Satoshi Narumi
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background MIRAGE syndrome is a recently discovered rare genetic disease characterized by myelodysplasia (M), infection (I), growth restriction (R), adrenal hypoplasia (A), genital phenotypes (G), and enteropathy (E), caused by a gain-of-fun
Externí odkaz:
https://doaj.org/article/33bedf3d887a45e5af2b33bc0d95a0a9
Publikováno v:
Clinical Pediatric Endocrinology; Apr2024, Vol. 33 Issue 2, p94-100, 7p
Autor:
Chiho Sugisawa, Satoshi Narumi, Kanako Tanase-Nakao, Ayako Hoshiyama, Nami Suzuki, Hidemi Ohye, Miho Fukushita, Masako Matsumoto, Ai Yoshihara, Natsuko Watanabe, Kiminori Sugino, Akira Hishinuma, Jaeduk Yoshimura Noh, Ryohei Katoh, Matsuo Taniyama, Koichi Ito
Publikováno v:
Thyroid. 33:556-565
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f4f0fd3e7ecdde210382fd9360a356c9
https://doi.org/10.1089/thy.2022.0481
https://doi.org/10.1089/thy.2022.0481
Publikováno v:
Neonatology. :1-5
MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. This report describes heat stroke and rhabdomyolysis caused by anhidrosis as a symptom of MIRAGE syndrome i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94c9e5dd255a10aa13a1ea42f40b9f3f
https://doi.org/10.1159/000529762
https://doi.org/10.1159/000529762