Zobrazeno 1 - 10
of 200
pro vyhledávání: '"Hidenori Ohnishi"'
Autor:
Hideki Matsumoto, Hideo Sasai, Norio Kawamoto, Masato Katsuyama, Makoto Minamiyama, Satoshi Kuru, Toshiyuki Fukao, Hidenori Ohnishi, the SMON Research Group Members
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Subacute myelo‐optico‐neuropathy (SMON) is a neurological disorder associated with the administration of clioquinol, particularly at very high doses. Although clioquinol has been used worldwide, there was an outbreak of SMON i
Externí odkaz:
https://doaj.org/article/1cc8806176c84084a12e00ffc5038dc4
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. We report a case of a boy with suspected Marfan syndrome. Gene
Externí odkaz:
https://doaj.org/article/eaccd6e4960b48418367201097fee6d4
Publikováno v:
PLoS ONE, Vol 19, Iss 5, p e0289187 (2024)
Recently, a low-level somatic mutation in the NRAS gene (c.182 A > G, Q61R) was identified in various specimens from patients with kaposiform lymphangiomatosis. However, it is unknown how these low-frequency mutated cells can affect the characterizat
Externí odkaz:
https://doaj.org/article/d31c1228fc8548449b7d24956c69a887
Autor:
Azusa Haba, Yuko Imaizumi, Daichi Hayashi, Shiho Yasue, Hiroki Otsuka, Saori Endo, Michio Ozeki, Kazuhiro Kobayashi, Tatsuhiko Miyazaki, Akira Hara, Hidenori Ohnishi
Publikováno v:
Hematology, Vol 28, Iss 1 (2023)
ABSTRACTBackground Transient abnormal myelopoiesis (TAM) is characterized by leukocytosis with increased circulating megakaryoblasts that harbor N-terminal truncating mutations in the GATA1 gene. Approximately 10% of affected patients experience earl
Externí odkaz:
https://doaj.org/article/d41750bc1a3346248b64fb0dc059783b
Autor:
Nagie Tozaki, Chisato Tawada, Hirofumi Niwa, Yoko Mizutani, En Shu, Aki Kawase, Yuki Miwa, Hidenori Ohnishi, Hideo Sasai, Keisuke Miyako, Junichi Hosokawa, Ayaka Kato, Kazuhiro Kobayashi, Tatsuhiko Miyazaki, Yohei Shirakami, Masahito Shimizu, Hiroaki Iwata
Publikováno v:
Frontiers in Medicine, Vol 9 (2022)
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome has recently been described as an autoinflammatory disease associated with severe adult-onset inflammatory manifestations. The various clinical manifestations include recurrent
Externí odkaz:
https://doaj.org/article/d45633eee96a4d5d81924831c388d694
Autor:
Nobuo Kanazawa, Hiroaki Hemmi, Noriko Kinjo, Hidenori Ohnishi, Jun Hamazaki, Hiroyuki Mishima, Akira Kinoshita, Tsunehiro Mizushima, Satoru Hamada, Kazuya Hamada, Norio Kawamoto, Saori Kadowaki, Yoshitaka Honda, Kazushi Izawa, Ryuta Nishikomori, Miyuki Tsumura, Yusuke Yamashita, Shinobu Tamura, Takashi Orimo, Toshiya Ozasa, Takashi Kato, Izumi Sasaki, Yuri Fukuda-Ohta, Naoko Wakaki-Nishiyama, Yutaka Inaba, Kayo Kunimoto, Satoshi Okada, Takeshi Taketani, Koichi Nakanishi, Shigeo Murata, Koh-ichiro Yoshiura, Tsuneyasu Kaisho
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Genetic variants of proteasome subunit genes have been shown to associate with perturbed immune function. Here authors show that a heterozygous missense variant of the immunoproteasome subunit β-type 9 causes an autoinflammatory/immune deficiency sy
Externí odkaz:
https://doaj.org/article/bc153bd94dab48289d8e89f5cfa52002
Autor:
Takayuki Miyamoto, Yoshitaka Honda, Kazushi Izawa, Nobuo Kanazawa, Saori Kadowaki, Hidenori Ohnishi, Masakazu Fujimoto, Naotomo Kambe, Naoya Kase, Takeshi Shiba, Yasuo Nakagishi, Shuji Akizuki, Kosaku Murakami, Masahiro Bamba, Yutaka Nishida, Ayano Inui, Tomoo Fujisawa, Daisuke Nishida, Naomi Iwata, Yoshikazu Otsubo, Shingo Ishimori, Momoko Nishikori, Kiminobu Tanizawa, Tomoyuki Nakamura, Takeshi Ueda, Yoko Ohwada, Yu Tsuyusaki, Masaki Shimizu, Takasuke Ebato, Kousho Iwao, Akiharu Kubo, Toshinao Kawai, Tadashi Matsubayashi, Tatsuhiko Miyazaki, Tomohiro Kanayama, Masahiko Nishitani-Isa, Hiroshi Nihira, Junya Abe, Takayuki Tanaka, Eitaro Hiejima, Satoshi Okada, Osamu Ohara, Megumu K. Saito, Junko Takita, Ryuta Nishikomori, Takahiro Yasumi
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
PurposeUpregulation of type I interferon (IFN) signaling has been increasingly detected in inflammatory diseases. Recently, upregulation of the IFN signature has been suggested as a potential biomarker of IFN-driven inflammatory diseases. Yet, it rem
Externí odkaz:
https://doaj.org/article/5700023cf0774dc68dac5c83825a3a61
Autor:
Saho Tochibora, Tomohiro Hori, Mai Mori, Hideki Matsumoto, Hiroki Otsuka, Hideo Sasai, Yuko Ito, Yukiko Kasahara, Norio Kawamoto, Hidenori Ohnishi
Publikováno v:
Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract This report illustrates a case of central hypothyroidism in a newborn immediately after birth caused by maternal Graves' disease. Infants from mothers with Graves' disease require careful examination without waiting for neonatal screening re
Externí odkaz:
https://doaj.org/article/57b602b3758e43e99dcbbd7907678025
Autor:
Saori Kadowaki, Kunio Hashimoto, Toyoki Nishimura, Kenichi Kashimada, Tomonori Kadowaki, Norio Kawamoto, Kohsuke Imai, Satoshi Okada, Hirokazu Kanegane, Hidenori Ohnishi
Publikováno v:
Arthritis Research & Therapy, Vol 23, Iss 1, Pp 1-11 (2021)
Abstract Background A20 haploinsufficiency (HA20) is an early-onset autoinflammatory disease caused by mutations in the TNFAIP3 gene, which encodes the protein A20. Numerous truncating mutations in the TNFAIP3 gene have been reported in HA20 patients
Externí odkaz:
https://doaj.org/article/79f17a3f251843cfb2a0b29a82d1ddf2
Autor:
Etsushi Toyofuku, Kozue Takeshita, Hidenori Ohnishi, Yuko Kiridoshi, Hiroaki Masuoka, Tomonori Kadowaki, Ryuta Nishikomori, Kenichi Nishimura, Chie Kobayashi, Takasuke Ebato, Tomonari Shigemura, Yuzaburo Inoue, Wataru Suda, Masahira Hattori, Tomohiro Morio, Kenya Honda, Hirokazu Kanegane
Publikováno v:
Frontiers in Cellular and Infection Microbiology, Vol 11 (2022)
IntroductionHaploinsufficiency of A20 (HA20) is a form of inborn errors of immunity (IEI). IEIs are genetically occurring diseases, some of which cause intestinal dysbiosis. Due to the dysregulation of regulatory T cells (Tregs) observed in patients
Externí odkaz:
https://doaj.org/article/7def3c4cc537413ba58d2b7e13017a76