Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12 von Toyoda, Yu, Kawamura, Yusuke, Nakayama, Akiyoshi, Nakaoka, Hirofumi, Higashino, Toshihide, Shimizu, Seiko, Ooyama, Hiroshi, Morimoto, Keito, Uchida, Naohiro, Shigesawa, Ryuichiro, Takeuchi, Kenji, Inoue, Ituro, Ichida, Kimiyoshi, Suzuki, Hiroshi, Shinomiya, Nariyoshi, Takada, Tappei, Matsuo, Hirotaka

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Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families von Kawamura, Yusuke, Toyoda, Yu, Ohnishi, Takuma, Hisatomi, Ryutaro, Higashino, Toshihide, Nakayama, Akiyoshi, Shimizu, Seiko, Yanagi, Masato, Kamimaki, Isamu, Fujimaru, Rika, Suzuki, Hiroshi, Shinomiya, Nariyoshi, Takada, Tappei, Matsuo, Hirotaka

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Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient von Minakawa, Satoko, Matsuzaki, Yasushi, Higashino, Toshihide, Suzuki, Tamio, Tomita, Hirofumi, Akasaka, Eijiro, Sawamura, Daisuke

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A common variant of LDL receptor related protein 2 (LRP2) gene is associated with gout susceptibility: a meta-analysis in a Japanese population von Akashi, Airi, Nakayama, Akiyoshi, Kamatani, Yoichiro, Higashino, Toshihide, Shimizu, Seiko, Kawamura, Yusuke, Imoto, Misaki, Naito, Mariko, Hishida, Asahi, Kawaguchi, Makoto, Takao, Mikiya, Matsuo, Michinori, Takada, Tappei, Ichida, Kimiyoshi, Ooyama, Hiroshi, Shinomiya, Nariyoshi, Matsuo, Hirotaka

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A common variant of MAF/c-MAF, transcriptional factor gene in the kidney, is associated with gout susceptibility von Higashino, Toshihide, Matsuo, Hirotaka, Okada, Yukinori, Nakashima, Hiroshi, Shimizu, Seiko, Sakiyama, Masayuki, Tadokoro, Shin, Nakayama, Akiyoshi, Kawaguchi, Makoto, Komatsu, Mako, Hishida, Asahi, Nakatochi, Masahiro, Ooyama, Hiroshi, Imaki, Junko, Shinomiya, Nariyoshi

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Coincidence of acral peeling skin syndrome and Nagashima-type palmoplantar keratosis in a Japanese pedigree with acral skin peeling von Higashino, Toshihide, Konomi, Mayu, Kubo, Akiharu, Horinosono, Hiroshi, Miura, Yoshinori

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Two cases of erythema exsudativum multiforme associated with Chlamydia pneumoniae infection von HOSOKAWA, Ryoko, KOBAYASHI, Takashi, HIGASHINO, Toshihide, ASANO, Chika, ONO, Koji, FUJIMOTO, Norihiro, TAJIMA, Shingo

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Assessment of Delayed Large Local Reactions After the First Dose of the SARS-CoV-2 mRNA-1273 Vaccine in Japan von Higashino, Toshihide, Yamazaki, Yuki, Senda, Satoko, Satou, Yushi, Yonekura, Yuiko, Imai, Kazuo, Arakawa, Junko, Kawano, Shuichi, Horinosono, Hiroshi, Miura, Yoshinori

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Multiple common and rare variants of ABCG2 cause gout von Higashino, Toshihide, Takada, Tappei, Nakaoka, Hirofumi, Toyoda, Yu, Stiburkova, Blanka, Miyata, Hiroshi, Ikebuchi, Yuki, Nakashima, Hiroshi, Shimizu, Seiko, Kawaguchi, Makoto, Sakiyama, Masayuki, Nakayama, Akiyoshi, Akashi, Airi, Tanahashi, Yuki, Kawamura, Yusuke, Nakamura, Takahiro, Wakai, Kenji, Okada, Rieko, Yamamoto, Ken, Hosomichi, Kazuyoshi, Hosoya, Tatsuo, Ichida, Kimiyoshi, Ooyama, Hiroshi, Suzuki, Hiroshi, Inoue, Ituro, Merriman, Tony R, Shinomiya, Nariyoshi, Matsuo, Hirotaka

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ADH1BとALDH2の機能低下型変異は独立した痛風発症のリスクである von Kawaguchi, Makoto, Matsuo, Hirotaka, Sakiyama, Masayuki, Shimizu, Seiko, Higashino, Toshihide, Nakayama, Akiyoshi, Ichida, Kimiyoshi, Shimizu, Toru, Ooyama, Hiroshi, Shinomiya, Nariyoshi

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尿酸トランスポーター遺伝子ABCG2のレアバリアントはコモンバリアントと同様に痛風のリスクを著しく上昇させる von Matsuo, Hirotaka, Higashino, Toshihide, Takada, Tappei, Shimizu, Seiko, Kawaguchi, Makoto, Sakiyama, Masayuki, Nakayama, Akiyoshi, Kawamura, Yusuke, Hosoya, Tatsuo, Ichida, Kimiyoshi, Ooyama, Hiroshi, Suzuki, Hiroshi, Shinomiya, Nariyoshi

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Two cases of erythema exsudativum multiforme associated with Chlamydia pneumoniae infection von HOSOKAWA, Ryoko, KOBAYASHI, Takashi, HIGASHINO, Toshihide, ASANO, Chika, ONO, Koji, FUJIMOTO, Norihiro, TAJIMA, Shingo

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無症候性高尿酸血症群と痛風症例群のゲノムワイド関連解析により痛風発症に関連する新規遺伝子座を同定した von 河村, 優輔, 松尾, 洋孝, 中山, 昌喜, 東野, 俊英, 清水, 徹, 大山, 博司, 大山, 恵子, 長瀬, 満夫, 清水, 聖子, 川口, 真, 高尾, 幹也, 高田, 龍平, 細谷, 龍男, 市田, 公美, 四ノ宮, 成祥

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尿酸トランスポーター遺伝子ABCG2のレアバリアントはコモンバリアントと同様に痛風のリスクを著しく上昇させる von 松尾, 洋孝, 東野, 俊英, 高田, 龍平, 清水, 聖子, 川口, 真, 崎山, 真幸, 中山, 昌喜, 河村, 優輔, 細谷, 龍男, 市田, 公美, 大山, 博司, 鈴木, 洋史, 四ノ宮, 成祥

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URAT1/SLC22A12遺伝子の機能消失型変異が血清尿酸値および痛風・高尿酸血症の発症に与える影響 von 崎山, 真幸, 松尾, 洋孝, 清水, 聖子, 中山, 昌喜, 東野, 俊英, 高田, 龍平, 市田, 公美, 大山, 博司, 清水, 徹, 四ノ宮, 成祥

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尿酸トランスポーターABCG2を介したヒト腸管からの尿酸排泄の証明：小腸上皮障害のマーカーとしての血清尿酸値の重要性 von 松尾, 洋孝, 大山, 恵子, 崎山, 真幸, 高田, 龍平, 中山, 昌喜, 川口, 真, 東野, 俊英, 大山, 博司, 市田, 公美, 藤森, 新, 四ノ宮, 成祥

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Effects of Ingested Water Volume on Oral Absorption of Fenofibrate, a BCS Class II Drug, from Micronized and Amorphous Solid Dispersion Formulations in Rats von Kataoka, Makoto, Ikkou, Sakiho, Kato, Yuki, Minami, Keiko, Higashino, Haruki, Takagi, Toshihide, Yamashita, Shinji

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The effects of degree and duration of supersaturation on in vivo absorption profiles for highly permeable drugs, dipyridamole and ketoconazole von Higashino, Haruki, Minami, Keiko, Takagi, Toshihide, Kataoka, Makoto, Yamashita, Shinji

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High serum IL-6 level reflects susceptible status of the host to endotoxin and IL-1/tumor necrosis factor von Yoshimoto, T, Nakanishi, K, Hirose, S, Hiroishi, K, Okamura, H, Takemoto, Y, Kanamaru, A, Hada, T, Tamura, T, Kakishita, E

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Δ 22 ‐β‐Muricholic acid in monoassociated rats and conventional ratsacid in monoassociated rats and conventional rats von Kayahara, Takayuki, Tamura, Toshihide, Amuro, Yoshiki, Higashino, Kazuya, Igimi, Hirotsune, Uchida, Kiyoshisa

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