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收藏Non-invasive urinary heteroplasmy screening outperforms blood testing for certain mitochondrial DNA variants in mitochondrial disease patients非侵入性尿液异质筛查在特定线粒体DNA变体方面优于血液检测,用于线粒体疾病患者
Okazaki, Atsuko; Yatsuka, Yukiko; Fushimi, Takuya; Onuki, Takanori; Aida, Yuko; Aihara, Hisato; Imasawa, Toshiyuki; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi
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收藏Pleiotropic effects of MORC2 derive from its epigenetic signatureMORC2的多种表型效应源于其表观遗传特征
Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L.; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger
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收藏Ferroptosis susceptibility in primary coenzyme Q10 deficiency: Cellular insights from patient fibroblasts and clinical course of six individuals原发性辅酶Q10缺乏症的 ferroptosis 易感性:来自患者成纤维细胞的细胞学见解及六例个体的临床病程
Watanabe, Chika; Miyauchi, Akihiko; Aoki, Shiho; Watanabe, Miyuki; Jimbo, Eriko F.; Miyama, Yuudai; Kitayama, Hirotsugu; Uno, Yuichi; Watanabe, Kenji; Hattori, Yuka; Yotsumoto, Yuka; Onuki, Takanori; Sugiyama, Yohei; Ichimoto, Keiko; Yatsuka, Yukiko; Okazaki, Yasushi; Imasawa, Toshiyuki; Murayama, Kei; Ohtake, Akira; Yamagata, Takanori; Osaka, Hitoshi
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收藏Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumoniaFBXL4相关的线粒体DNA耗竭综合征的兄弟姐妹,导致致命的暴发性肺炎
Akiba, Takato; Shimada, Shino; Matsuda, Shimpei; Ishida, Shoji; Baba, Yosuke; Yamashita, Atsushi; Shoji, Hiromichi; Okazaki, Yasushi; Murayama, Kei
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收藏Betagenin ameliorates diabetes by inducing insulin secretion and b-cell proliferation
Yokoo, Tomotaka; Watanabe, Kazuhisa; Iida, Kaoruko; Nakachi, Yutaka; Suzuki, Hiroaki; Shimano, Hitoshi; Takashima, Seiji; Okazaki, Yasushi; Yamada, Nobuhiro; Toyoshima, Hideo
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收藏Variants in MICOS10 Identified by Whole Genome Sequencing and RNA Sequencing in a New Type of Hepatocerebral Mitochondrial DNA Depletion Syndrome通过全基因组测序和RNA测序鉴定的新型肝脑线粒体DNA耗竭综合征中MICOS10的变异
Kishita, Yoshihito; Sugiura, Ayumu; Omichi, Nanako; Shimura, Masaru; Yatsuka, Yukiko; Nakamura, Kohta; Tanaka, Toju; Kubota, Mitsuru; Murayama, Kei; Ohtake, Akira; Okazaki, Yasushi
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