Search Results - "Shimanuki, Hideyuki"

Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis by Kawai, Yosuke, Watanabe, Yusuke, Omae, Yosuke, Miyahara, Reiko, Khor, Seik-Soon, Noiri, Eisei, Kitajima, Koji, Shimanuki, Hideyuki, Gatanaga, Hiroyuki, Hata, Kenichiro, Hattori, Kotaro, Iida, Aritoshi, Ishibashi-Ueda, Hatsue, Kaname, Tadashi, Kanto, Tatsuya, Matsumura, Ryo, Miyo, Kengo, Noguchi, Michio, Ozaki, Kouichi, Sugiyama, Masaya, Takahashi, Ayako, Tokuda, Haruhiko, Tomita, Tsutomu, Umezawa, Akihiro, Watanabe, Hiroshi, Yoshida, Sumiko, Goto, Yu-Ichi, Maruoka, Yutaka, Matsubara, Yoichi, Niida, Shumpei, Mizokami, Masashi, Tokunaga, Katsushi

“…The Japanese archipelago is a terminal location for human migration, and the contemporary Japanese people represent a unique population whose genomic diversity…”
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A homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD by Suga, Akiko, Mizobuchi, Kei, Inooka, Taiga, Yoshitake, Kazutoshi, Minematsu, Naoko, Tsunoda, Kazushige, Kuniyoshi, Kazuki, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Ishibashi-Ueda, Hatsue, Tomita, Tsutomu, Noguchi, Michio, Takahashi, Ayako, Goto, Yu-ichi, Yoshida, Sumiko, Hattori, Kotaro, Matsumura, Ryo, Iida, Aritoshi, Maruoka, Yutaka, Gatanaga, Hiroyuki, Sugiyama, Masaya, Suzuki, Satoshi, Miyo, Kengo, Matsubara, Yoichi, Umezawa, Akihiro, Hata, Kenichiro, Kaname, Tadashi, Ozaki, Kouichi, Tokuda, Haruhiko, Watanabe, Hiroshi, Niida, Shumpei, Noiri, Eisei, Kitajima, Koji, Omae, Yosuke, Miyahara, Reiko, Shimanuki, Hideyuki, Kawai, Yosuke, Tokunaga, Katsushi, Hayashi, Takaaki, Ueno, Shinji, Iwata, Takeshi

“…Achromatopsia (ACHM) is an early-onset cone dysfunction caused by 5 genes with cone-specific functions (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) and by ATF6, a…”
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Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis by Yosuke Kawai, Yusuke Watanabe, Yosuke Omae, Reiko Miyahara, Seik-Soon Khor, Eisei Noiri, Koji Kitajima, Hideyuki Shimanuki, Hiroyuki Gatanaga, Kenichiro Hata, Kotaro Hattori, Aritoshi Iida, Hatsue Ishibashi-Ueda, Tadashi Kaname, Tatsuya Kanto, Ryo Matsumura, Kengo Miyo, Michio Noguchi, Kouichi Ozaki, Masaya Sugiyama, Ayako Takahashi, Haruhiko Tokuda, Tsutomu Tomita, Akihiro Umezawa, Hiroshi Watanabe, Sumiko Yoshida, Yu-ichi Goto, Yutaka Maruoka, Yoichi Matsubara, Shumpei Niida, Masashi Mizokami, Katsushi Tokunaga

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Genetically Predicted Higher Levels of Caffeic Acid Are Protective Against Ulcerative Colitis: A Comprehensive Metabolome Analysis by Naito, Takeo, Osaka, Ryuya, Kakuta, Yoichi, Kawai, Yosuke, Khor, Seik-Soon, Umeno, Junji, Tokunaga, Katsushi, Nagai, Hiroshi, Shimoyama, Yusuke, Moroi, Rintaro, Shiga, Hisashi, Nagasaki, Masao, Kinouchi, Yoshitaka, Masamune, Atsushi

“…It is crucial to pinpoint the metabolites that cause Crohn's disease (CD) and ulcerative colitis (UC) to comprehend their pathogenesis and identify possible…”
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Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome by Orimo, Kenta, Mitsui, Jun, Matsukawa, Takashi, Tanaka, Masaki, Nomoto, Junko, Ishiura, Hiroyuki, Omae, Yosuke, Kawai, Yosuke, Tokunaga, Katsushi, Toda, Tatsushi, Tsuji, Shoji

“…Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar ataxia…”
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Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome by Orimo, Kenta, Mitsui, Jun, Matsukawa, Takashi, Tanaka, Masaki, Nomoto, Junko, Ishiura, Hiroyuki, Omae, Yosuke, Kawai, Yosuke, Tokunaga, Katsushi, Toda, Tatsushi, Tsuji, Shoji

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HLA-DQA105 and upstream variants of PPARGC1B are associated with infliximab persistence in Japanese Crohn’s disease patients by Shimoda, Fumiko, Naito, Takeo, Kakuta, Yoichi, Kawai, Yosuke, Tokunaga, Katsushi, Shimoyama, Yusuke, Moroi, Rintaro, Shiga, Hisashi, Nagasaki, Masao, Kinouchi, Yoshitaka, Masamune, Atsushi

“…Recently, the HLA-DQA1*05 (rs2097432) genetic variation has been reported to be linked to early infliximab (IFX) treatment failure in the Caucasian Crohn’s…”
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Unique Characteristics of Community-Onset Healthcare-Associated Bloodstream Infections: A Multicentre Prospective Surveillance Study of Bloodstream Infections in Japan by Takeshita, Nozomi, Kawamura, Ichiro, Kurai, Hanako, Araoka, Hideki, Yoneyama, Akiko, Fujita, Takahiro, Ainoda, Yusuke, Hase, Ryota, Hosokawa, Naoto, Shimanuki, Hideyuki, Sekiya, Noritaka, Ohmagari, Norio

“…Summary Background Analysis of bloodstream infections (BSIs) is valuable for their diagnosis, treatment, and prevention. However, limited data are available in…”
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Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy by Imai, Takeshi, Mitsuhashi, Satomi, Isahaya, Kenji, Shibata, Soichiro, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Yamano, Yoshihisa

“…We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence of two novel…”
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Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes by Nakamura, Wataru, Hirata, Makoto, Oda, Satoyo, Chiba, Kenichi, Okada, Ai, Mateos, Raúl Nicolás, Sugawa, Masahiro, Iida, Naoko, Ushiama, Mineko, Tanabe, Noriko, Sakamoto, Hiromi, Sekine, Shigeki, Hirasawa, Akira, Kawai, Yosuke, Tokunaga, Katsushi, Tsujimoto, Shin-ichi, Shiba, Norio, Ito, Shuichi, Yoshida, Teruhiko, Shiraishi, Yuichi

“…Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic…”
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