Search Results - "Nihira, Hiroshi"

Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants by Honda, Yoshitaka, Maeda, Yukako, Izawa, Kazushi, Shiba, Takeshi, Tanaka, Takayuki, Nakaseko, Haruna, Nishimura, Keisuke, Mukoyama, Hiroki, Isa-Nishitani, Masahiko, Miyamoto, Takayuki, Nihira, Hiroshi, Shibata, Hirofumi, Hiejima, Eitaro, Ohara, Osamu, Takita, Junko, Yasumi, Takahiro, Nishikomori, Ryuta

“…Purpose Pathogenic MEFV variants cause pyrin-associated autoinflammatory diseases (PAADs), which include familial Mediterranean fever (FMF), FMF-like disease,…”
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Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency by Shiraki, Mayuka, Williams, Eleri, Yokoyama, Norifumi, Shinoda, Kunihiro, Nademi, Zohreh, Matsumoto, Kana, Nihira, Hiroshi, Honda, Yoshitaka, Izawa, Kazushi, Nishikomori, Ryuta, Slatter, Mary A., Cant, Andrew J., Gennery, Andrew R., Ohnishi, Hidenori, Kanegane, Hirokazu

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Molecular characterization of the first human G15 rotavirus strain of zoonotic origin from the bovine species by Tsugawa, Takeshi, Fujii, Yoshiki, Akane, Yusuke, Honjo, Saho, Kondo, Kenji, Nihira, Hiroshi, Kimura, Hirokazu, Kawasaki, Yukihiko

“…Group A rotaviruses (RVAs) infect a wide variety of mammalian and avian species. Animals act as a potential reservoir to RVA human infections by direct virion…”
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency by Boisson, Bertrand, Honda, Yoshitaka, Ajiro, Masahiko, Bustamante, Jacinta, Bendavid, Matthieu, Gennery, Andrew R, Kawasaki, Yuri, Ichishima, Jose, Osawa, Mitsujiro, Nihira, Hiroshi, Shiba, Takeshi, Tanaka, Takayuki, Chrabieh, Maya, Bigio, Benedetta, Hur, Hong, Itan, Yuval, Liang, Yupu, Okada, Satoshi, Izawa, Kazushi, Nishikomori, Ryuta, Ohara, Osamu, Heike, Toshio, Abel, Laurent, Puel, Anne, Saito, Megumu K, Casanova, Jean-Laurent, Hagiwara, Masatoshi, Yasumi, Takahiro

“…X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by…”
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Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage by Enokizono, Mikako, Kurokawa, Ryo, Yagishita, Akira, Nakata, Yasuhiro, Koyasu, Sho, Nihira, Hiroshi, Kuwashima, Shigeko, Aida, Noriko, Kono, Tatsuo, Mori, Harushi

“…Cerebral small vessel disease (cSVD) refers to a group of pathological processes with various etiologies affecting the small vessels of the brain. Most cases…”
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Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation by Nakajima, Koji, Hiejima, Eitaro, Nihira, Hiroshi, Kato, Kentaro, Honda, Yoshitaka, Izawa, Kazushi, Kawabata, Naoko, Kato, Itaru, Ogawa, Eri, Sonoda, Mari, Okamoto, Tatsuya, Okajima, Hideaki, Yasumi, Takahiro, Takita, Junko

“…Hepatic manifestations of Epstein-Barr virus (EBV) infection are relatively common, mild, and self-limiting. Although fulminant hepatic failure has been…”
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Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis by Aoki, Mariko, Izawa, Kazushi, Tanaka, Takayuki, Honda, Yoshitaka, Shiba, Takeshi, Maeda, Yukako, Miyamoto, Takayuki, Okamoto, Keisuke, Nishitani-Isa, Masahiko, Nihira, Hiroshi, Imai, Kohsuke, Takita, Junko, Nishikomori, Ryuta, Hiejima, Eitaro, Yasumi, Takahiro

“…Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease that causes recurrent fever, arthritis, and serositis. The diagnosis of FMF is…”
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Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience by Miyamoto, Takayuki, Honda, Yoshitaka, Izawa, Kazushi, Kanazawa, Nobuo, Kadowaki, Saori, Ohnishi, Hidenori, Fujimoto, Masakazu, Kambe, Naotomo, Kase, Naoya, Shiba, Takeshi, Nakagishi, Yasuo, Akizuki, Shuji, Murakami, Kosaku, Bamba, Masahiro, Nishida, Yutaka, Inui, Ayano, Fujisawa, Tomoo, Nishida, Daisuke, Iwata, Naomi, Otsubo, Yoshikazu, Ishimori, Shingo, Nishikori, Momoko, Tanizawa, Kiminobu, Nakamura, Tomoyuki, Ueda, Takeshi, Ohwada, Yoko, Tsuyusaki, Yu, Shimizu, Masaki, Ebato, Takasuke, Iwao, Kousho, Kubo, Akiharu, Kawai, Toshinao, Matsubayashi, Tadashi, Miyazaki, Tatsuhiko, Kanayama, Tomohiro, Nishitani-Isa, Masahiko, Nihira, Hiroshi, Abe, Junya, Tanaka, Takayuki, Hiejima, Eitaro, Okada, Satoshi, Ohara, Osamu, Saito, Megumu K, Takita, Junko, Nishikomori, Ryuta, Yasumi, Takahiro

“…Upregulation of type I interferon (IFN) signaling has been increasingly detected in inflammatory diseases. Recently, upregulation of the IFN signature has been…”
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A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis by Sakura, Fumiaki, Noma, Kosuke, Asano, Takaki, Tanita, Kay, Toyofuku, Etsushi, Kato, Kentaro, Tsumura, Miyuki, Nihira, Hiroshi, Izawa, Kazushi, Mitsui-Sekinaka, Kanako, Konno, Ryo, Kawashima, Yusuke, Mizoguchi, Yoko, Karakawa, Shuhei, Hayakawa, Seiichi, Kawaguchi, Hiroshi, Imai, Kohsuke, Nonoyama, Shigeaki, Yasumi, Takahiro, Ohnishi, Hidenori, Kanegane, Hirokazu, Ohara, Osamu, Okada, Satoshi

“…Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room for…”
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Enzyme activity in dried blood spot as a diagnostic tool for adenosine deaminase 2 deficiency by Ito, Moeko, Nihira, Hiroshi, Izawa, Kazushi, Yasumi, Takahiro, Nishikomori, Ryuta, Iwaki-Egawa, Sachiko

“…Deficiency of adenosine deaminase 2 (DADA2) is an autoinflammatory disease caused by mutations in the adenosine deaminase 2 (ADA2) gene. Loss of functional…”
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Successful cord blood transplantation using reduced intensity conditioning in a 5‐month‐old patient with IL‐10RA deficiency by Isobe, Kiyotaka, Saida, Satoshi, Honda, Yoshitaka, Nihira, Hiroshi, Hiejima, Eitaro, Izawa, Kazushi, Kubota, Hirohito, Kato, Itaru, Umeda, Katsutsugu, Hiramatsu, Hidefumi, Yasumi, Takahiro, Takita, Junko

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Successful treatment of spondyloenchondrodysplasia with baricitinib by Shimizu, Masaki, Inoue, Natsumi, Mizuta, Mao, Irabu, Hitoshi, Okajima, Michiko, Honda, Yoshitaka, Nihira, Hiroshi, Izawa, Kazushi, Yachie, Akihiro, Wada, Taizo

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Genotypes and transmission routes of noroviruses causing sporadic acute gastroenteritis among adults and children, Japan, 2015–2019 by Honjo, Saho, Kuronuma, Koji, Fujiya, Yoshihiro, Nakae, Mami, Ukae, Susumu, Nihira, Hiroshi, Yamamoto, Masaki, Akane, Yusuke, Kondo, Kenji, Takahashi, Satoshi, Kimura, Hirokazu, Tsutsumi, Hiroyuki, Kawasaki, Yukihiko, Tsugawa, Takeshi

“…Noroviruses (NoVs) are major causes of acute viral gastroenteritis at all ages worldwide. The molecular epidemiology of sporadic cases remains poorly…”
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Detailed analysis of Japanese patients with adenosine deaminase 2 deficiency reveals characteristic elevation of type II interferon signature and STAT1 hyperactivation by Nihira, Hiroshi, Izawa, Kazushi, Ito, Moeko, Umebayashi, Hiroaki, Okano, Tsubasa, Kajikawa, Shunsuke, Nanishi, Etsuro, Keino, Dai, Murakami, Kosaku, Isa-Nishitani, Masahiko, Shiba, Takeshi, Honda, Yoshitaka, Hijikata, Atsushi, Yasu, Tadateru, Kubota, Tomohiro, Hasegawa, Yoshinori, Kawashima, Yusuke, Nakano, Naoko, Takada, Hidetoshi, Ohga, Shouichi, Heike, Toshio, Takita, Junko, Ohara, Osamu, Takei, Syuji, Takahashi, Makio, Kanegane, Hirokazu, Morio, Tomohiro, Iwaki-Egawa, Sachiko, Sasahara, Yoji, Nishikomori, Ryuta, Yasumi, Takahiro

“…Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive inflammatory disease caused by loss-of-function mutations in both alleles of the ADA2…”
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A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity by Shibata, Hirofumi, Nakajima, Daisuke, Konno, Ryo, Hijikata, Atsushi, Higashiguchi, Motoko, Nihira, Hiroshi, Shimodera, Saeko, Miyamoto, Takayuki, Nishitani-Isa, Masahiko, Hiejima, Eitaro, Izawa, Kazushi, Takita, Junko, Heike, Toshio, Okamura, Ken, Ohnishi, Hidenori, Ishimura, Masataka, Okada, Satoshi, Yamashita, Motoi, Morio, Tomohiro, Kanegane, Hirokazu, Imai, Kohsuke, Nakamura, Yasuko, Nonoyama, Shigeaki, Uchiyama, Toru, Onodera, Masafumi, Nishikomori, Ryuta, Ohara, Osamu, Kawashima, Yusuke, Yasumi, Takahiro

“…Purpose Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial…”
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Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation by Nishitani-Isa, Masahiko, Mukai, Kojiro, Honda, Yoshitaka, Nihira, Hiroshi, Tanaka, Takayuki, Shibata, Hirofumi, Kodama, Kumi, Hiejima, Eitaro, Izawa, Kazushi, Kawasaki, Yuri, Osawa, Mitsujiro, Katata, Yu, Onodera, Sachiko, Watanabe, Tatsuya, Uchida, Takashi, Kure, Shigeo, Takita, Junko, Ohara, Osamu, Saito, Megumu K, Nishikomori, Ryuta, Taguchi, Tomohiko, Sasahara, Yoji, Yasumi, Takahiro

“…Mutations in the C-terminal region of the CDC42 gene cause severe neonatal-onset autoinflammation. Effectiveness of IL-1β-blocking therapy indicates that the…”
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Efficacy of steroid therapy for improving native liver survival after pediatric acute liver failure with immune activation by Oue, Hiroshi, Hiejima, Eitaro, Okajima, Hideaki, Okamoto, Tatsuya, Ogawa, Eri, Uebayashi, Elena Yukie, Hatano, Etsuro, Suga, Takenori, Hanami, Yotaro, Ashina, Kazushige, Kai, Shinichi, Sogo, Tsuyoshi, Inui, Ayano, Matsubara, Takeshi, Sakai, Kaoru, Yanagita, Motoko, Haga, Hironori, Minamiguchi, Sachiko, Yamada, Yosuke, Nihira, Hiroshi, Izawa, Kazushi, Yasumi, Takahiro, Takita, Junko

“…Recent evidence suggests that acute liver failure (ALF) in some patients may reflect a dysregulated immune response, and that corticosteroids improve survival…”
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Anti–Integrin αvβ6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis by Muramoto, Yuya, Nihira, Hiroshi, Shiokawa, Masahiro, Izawa, Kazushi, Hiejima, Eitaro, Seno, Hiroshi, Kuwada, Takeshi, Arai, Katsuhiro, Kudo, Takahiro, Iwama, Itaru, Mizuochi, Tatsuki, Sogo, Tsuyoshi, Kaji, Emiri, Doi, Takehiko, Kawai, Toshinao, Inoue, Masami, Sasahara, Yoji, Ohnishi, Hidenori, Okada, Satoshi, Kanegane, Hirokazu, Nishikomori, Ryuta, Shimizu, Hirotaka, Takeuchi, Ichiro, Ito, Natsuki, Yasuda, Ryosuke, Inui, Ayano, Etani, Yuri, Yamazaki, Hajime, Nishikawa, Yoshihiro, Honda, Yoshitaka, Uza, Norimitsu, Takita, Junko, Chiba, Tsutomu, Yasumi, Takahiro

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"Obtundation status (Dravet)" caused by complex partial status epilepticus in a patient with severe myoclonic epilepsy in infancy by Wakai, S, Ikehata, M, Nihira, H, Ito, N, Sueoka, H, Kawamoto, Y, Hayasaka, H, Chiba, S

“…We report a 1-year 7-month-old boy with severe myoclonic epilepsy in infancy (SME) who exhibited complex partial status epilepticus (CPSE), which was confirmed…”
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Whole brain radiotherapy with volumetric‐modulated arc therapy for pediatric intracranial embryonic carcinoma prevents permanent alopecia by Iwai, Atsushi, Umeda, Katsutsugu, Uto, Megumi, Nihira, Hiroshi, Kawaguchi, Koji, Mikami, Masamitsu, Nodomi, Seishiro, Saida, Satoshi, Hiramatsu, Hidefumi, Ogura, Kengo, Tanji, Masahiro, Arakawa, Yoshiki, Sakamoto, Tatsunori, Adachi, Souichi, Mizowaki, Takashi, Heike, Toshio

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