Search Results - "Yamaguchi, Miyoko"

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  1. 1

    Rescuing the aberrant sex development of H3K9 demethylase Jmjd1a-deficient mice by modulating H3K9 methylation balance by Kuroki, Shunsuke, Okashita, Naoki, Baba, Shoko, Maeda, Ryo, Miyawaki, Shingo, Yano, Masashi, Yamaguchi, Miyoko, Kitano, Satsuki, Miyachi, Hitoshi, Itoh, Akihiro, Yoshida, Minoru, Tachibana, Makoto

    Published in PLoS genetics (26-09-2017)
    “…Histone H3 lysine 9 (H3K9) methylation is a hallmark of heterochromatin. H3K9 demethylation is crucial in mouse sex determination; The H3K9 demethylase Jmjd1a…”
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    Journal Article
  2. 2

    Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children by Kubota, Masaya, Chida, Junji, Hoshino, Hideki, Ozawa, Hiroshi, Koide, Ayaka, Kashii, Hirohumi, Koyama, Akiko, Mizuno, Yoko, Hoshino, Ai, Yamaguchi, Miyoko, Yao, Dengbing, Yao, Min, Kido, Hiroshi

    Published in Brain & development (Tokyo. 1979) (01-01-2012)
    “…Abstract Despite the decrease in Reye syndrome after the discontinuation of aspirin, acute encephalopathy (non-Reye syndrome type) has been continually…”
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  3. 3

    Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy by Yao, Dengbing, Mizuguchi, Hiroshi, Yamaguchi, Miyoko, Yamada, Hiroshi, Chida, Junji, Shikata, Koji, Kido, Hiroshi

    Published in Human mutation (01-05-2008)
    “…Influenza-associated encephalopathy (IAE) is characterized by persistent high fever, febrile convulsions, severe brain edema, and high mortality in otherwise…”
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  4. 4

    First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L by Shima, Atsushi, Yasuno, Tetsuhiko, Yamada, Kenji, Yamaguchi, Miyoko, Kohno, Ryuichi, Yamaguchi, Seiji, Kido, Hiroshi, Fukuda, Hidetoshi

    Published in Internal Medicine (01-01-2016)
    “…Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inherited disorder related to recurrent episodes of rhabdomyolysis. The adult myopathic form of…”
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  5. 5

    Characterization of compound missense mutation and deletion of carnitine palmitoyltransferase II in a patient with adenovirus-associated encephalopathy by Yao, Dengbing, Yao, Min, Yamaguchi, Miyoko, Chida, Junji, Kido, Hiroshi

    “…Background: In mammals, carnitine palmitoyltransferase (CPT) system is a pivotal component of energy metabolism through mitochondrial fatty acid oxidation. The…”
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    Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy by Yao, Min, Yao, Dengbin, Yamaguchi, Miyoko, Chida, Junji, Yao, Dengfu, Kido, Hiroshi

    Published in Molecular genetics and metabolism (01-11-2011)
    “…Influenza-associated encephalopathy (IAE) is characterized by persistently high fever, febrile convulsions, severe brain edema and high mortality. We reported…”
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