Search Results - "Hira, Asuka"

Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia by Hira, Asuka, Yoshida, Kenichi, Sato, Koichi, Okuno, Yusuke, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Shimamoto, Akira, Tahara, Hidetoshi, Ito, Etsuro, Kojima, Seiji, Kurumizaka, Hitoshi, Ogawa, Seishi, Takata, Minoru, Yabe, Hiromasa, Yabe, Miharu

“…Fanconi anemia (FA) is a rare genetic disorder characterized by genome instability, increased cancer susceptibility, progressive bone marrow failure (BMF), and…”
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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients by Mori, Minako, Hira, Asuka, Yoshida, Kenichi, Muramatsu, Hideki, Okuno, Yusuke, Shiraishi, Yuichi, Anmae, Michiko, Yasuda, Jun, Tadaka, Shu, Kinoshita, Kengo, Osumi, Tomoo, Noguchi, Yasushi, Adachi, Souichi, Kobayashi, Ryoji, Kawabata, Hiroshi, Imai, Kohsuke, Morio, Tomohiro, Tamura, Kazuo, Takaori-Kondo, Akifumi, Yamamoto, Masayuki, Miyano, Satoru, Kojima, Seiji, Ito, Etsuro, Ogawa, Seishi, Matsuo, Keitaro, Yabe, Hiromasa, Yabe, Miharu, Takata, Minoru

“…Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to…”
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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients by Mori, Minako, Hira, Asuka, Yoshida, Kenichi, Muramatsu, Hideki, Okuno, Yusuke, Shiraishi, Yuichi, Anmae, Michiko, Yasuda, Jun, Tadaka, Shu, Kinoshita, Kengo, Osumi, Tomoo, Noguchi, Yasushi, Adachi, Souichi, Kobayashi, Ryoji, Kawabata, Hiroshi, Imai, Kohsuke, Morio, Tomohiro, Tamura, Kazuo, Takaori-Kondo, Akifumi, Yamamoto, Masayuki, Miyano, Satoru, Kojima, Seiji, Ito, Etsuro, Ogawa, Seishi, Matsuo, Keitaro, Yabe, Hiromasa, Yabe, Miharu, Takata, Minoru

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Pluripotent Cell Models of Fanconi Anemia Identify the Early Pathological Defect in Human Hemoangiogenic Progenitors by Suzuki, Naoya M., Niwa, Akira, Yabe, Miharu, Hira, Asuka, Okada, Chihiro, Amano, Naoki, Watanabe, Akira, Watanabe, Ken-ichiro, Heike, Toshio, Takata, Minoru, Nakahata, Tatsutoshi, Saito, Megumu K.

“…To address the issue of an initial pathological event in Fanconi anemia‐related bone marrow failure (FA‐BMF), induced pluripotent stem cells (iPSCs) were…”
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Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency by Mu, Anfeng, Hira, Asuka, Matsuo, Keitaro, Takata, Minoru

“…We have recently described the identification of a novel inherited bone marrow failure syndrome. The first set of patients was diagnosed through the exome…”
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Fanconi anemia and the molecular mechanism of the repair of DNA crosslinks by Hira, Asuka, Takata, Minoru

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Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients by Hira, Asuka, Yabe, Hiromasa, Yoshida, Kenichi, Okuno, Yusuke, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Nakamura, Jun, Kojima, Seiji, Ogawa, Seishi, Matsuo, Keitaro, Takata, Minoru, Yabe, Miharu

“…Fanconi anemia (FA) is a severe hereditary disorder with defective DNA damage response and repair. It is characterized by phenotypes including progressive bone…”
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Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans by Dingler, Felix A., Wang, Meng, Mu, Anfeng, Millington, Christopher L., Oberbeck, Nina, Watcham, Sam, Pontel, Lucas B., Kamimae-Lanning, Ashley N., Langevin, Frederic, Nadler, Camille, Cordell, Rebecca L., Monks, Paul S., Yu, Rui, Wilson, Nicola K., Hira, Asuka, Yoshida, Kenichi, Mori, Minako, Okamoto, Yusuke, Okuno, Yusuke, Muramatsu, Hideki, Shiraishi, Yuichi, Kobayashi, Masayuki, Moriguchi, Toshinori, Osumi, Tomoo, Kato, Motohiro, Miyano, Satoru, Ito, Etsuro, Kojima, Seiji, Yabe, Hiromasa, Yabe, Miharu, Matsuo, Keitaro, Ogawa, Seishi, Göttgens, Berthold, Hodskinson, Michael R.G., Takata, Minoru, Patel, Ketan J.

“…Reactive aldehydes arise as by-products of metabolism and are normally cleared by multiple families of enzymes. We find that mice lacking two aldehyde…”
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Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage by Mu, Anfeng, Hira, Asuka, Mori, Minako, Okamoto, Yusuke, Takata, Minoru

“…We have identified a set of Japanese children with hypoplastic anemia caused by combined defects in aldehyde degrading enzymes ADH5 and ALDH2. Their clinical…”
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia–like IBMFS ADH5/ALDH2 deficiency by Mu, Anfeng, Hira, Asuka, Niwa, Akira, Osawa, Mitsujiro, Yoshida, Kenichi, Mori, Minako, Okamoto, Yusuke, Inoue, Kazuko, Kondo, Keita, Kanemaki, Masato T., Matsuda, Tomonari, Ito, Etsuro, Kojima, Seiji, Nakahata, Tatsutoshi, Ogawa, Seishi, Tanaka, Keigo, Matsuo, Keitaro, Saito, Megumu K., Takata, Minoru

“…We have recently discovered Japanese children with a novel Fanconi anemia–like inherited bone marrow failure syndrome (IBMFS). This disorder is likely caused…”
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Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia by Yabe, Miharu, Koike, Takashi, Ohtsubo, Keisuke, Imai, Eri, Morimoto, Tsuyoshi, Takakura, Hiromitsu, Koh, Katsuyoshi, Yoshida, Kenichi, Ogawa, Seishi, Ito, Etsuro, Okuno, Yusuke, Muramatsu, Hideki, Kojima, Seiji, Matsuo, Keitaro, Mori, Minako, Hira, Asuka, Takata, Minoru, Yabe, Hiromasa

“…Fanconi anemia (FA) is a genetically and clinically heterogeneous disorder that predisposes patients to bone marrow failure (BMF), myelodysplastic syndromes…”
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The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype by Yabe, Miharu, Yabe, Hiromasa, Morimoto, Tsuyoshi, Fukumura, Akiko, Ohtsubo, Keisuke, Koike, Takashi, Yoshida, Kenichi, Ogawa, Seishi, Ito, Etsuro, Okuno, Yusuke, Muramatsu, Hideki, Kojima, Seiji, Matsuo, Keitaro, Hira, Asuka, Takata, Minoru

“…Summary Studies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase‐2 (ALDH2)…”
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Common Variable Immunodeficiency Caused by FANC Mutations by Sekinaka, Yujin, Mitsuiki, Noriko, Imai, Kohsuke, Yabe, Miharu, Yabe, Hiromasa, Mitsui-Sekinaka, Kanako, Honma, Kenichi, Takagi, Masatoshi, Arai, Ayako, Yoshida, Kenichi, Okuno, Yusuke, Shiraishi, Yuichi, Chiba, Kenichi, Tanaka, Hiroko, Miyano, Satoru, Muramatsu, Hideki, Kojima, Seiji, Hira, Asuka, Takata, Minoru, Ohara, Osamu, Ogawa, Seishi, Morio, Tomohiro, Nonoyama, Shigeaki

“…Common variable immunodeficiency (CVID) is the most common adult-onset primary antibody deficiency disease due to various causative genes. Several genes, which…”
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Characterization of Pathogenic Variants and Clinical Phenotypes in 117 Japanese Fanconi Anemia Patients by Mori, Minako, Hira, Asuka, Yoshida, Kenichi, Muramatsu, Hideki, Okuno, Yusuke, Anmae, Michiko, Tamura, Kazuo, Yasuda, Jun, Osumi, Tomoo, Noguchi, Yasushi, Adachi, Souichi, Kawabata, Hiroshi, Takaori-Kondo, Akifumi, Kojima, Seiji, Ogawa, Seishi, Yabe, Hiromasa, Yabe, Miharu, Takata, Minoru

“…Objective: Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome associated with multiple congenital abnormalities and predisposition…”
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Mesodermal Development From Reprogrammed Fanconi Anemia Cells Is Affected by ALDH2 Enzymatic Activity by Suzuki, Naoya, Hira, Asuka, Niwa, Akira, Saito, Megumu, Matsuo, Keitaro, Nakahata, Tatsutoshi, Takata, Minoru, Yabe, Miharu

“…Abstract 648 Fanconi anemia (FA) is a genome instability disorder with clinical characteristics including progressive bone marrow failure (BMF), developmental…”
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