研究者詳細 - 石浦　浩之

論文 - 石浦　浩之

分割表示 229 件中 181 - 200 件目／全件表示 >>

New familial amyotrophic lateral sclerosis with benign progression and myoclonus in lower extremities 査読

Togawa J, Ohi T, Yuan JH, Takashima H, Furuya H, Takechi S, Fujitake J, Hayashi S, Ishiura H, Naruse H, Mitsui J, Tsuji S

J. Neurol. Sci. 381 ( Supplement ) 716 2017年10月

Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan 査読

M. Ando, Y. Okamoto, A. Yoshimura, J. -H. Yuan, Y. Hiramatsu, Y. Higuchi, A. Hashiguchi, J. Mitsui, H. Ishiura, S. Fukumura, M. Matsushima, N. Ochi, J. Tsugawa, S. Morishita, S. Tsuji, H. Takashima

EUROPEAN JOURNAL OF NEUROLOGY 24 ( 10 ) 1274 - 1282 2017年10月

Clinicopathologic features of myositis patients with CD8-MHC-1 complex pathology 査読

Chiseko Ikenaga, Akatsuki Kubota, Masato Kadoya, Kenichiro Taira, Naohiro Uchio, Ayumi Hida, Meiko Hashimoto Maeda, Yu Nagashima, Hiroyuki Ishiura, Kenichi Kaida, Jun Goto, Shoji Tsuji, Jun Shimizu

NEUROLOGY 89 ( 10 ) 1060 - 1068 2017年9月

Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants 査読

A. Yoshimura, J. -H. Yuan, A. Hashiguchi, Y. Hiramatsu, M. Ando, Y. Higuchi, T. Nakamura, Y. Okamoto, K. Matsumura, T. Hamano, N. Sawaura, Y. Shimatani, S. Kumada, Y. Okumura, J. Miyahara, Y. Yamaguchi, S. Kitamura, K. Haginoya, J. Mitsui, H. Ishiura, S. Tsuji, H. Takashima

CLINICAL GENETICS 92 ( 3 ) 274 - 280 2017年9月

Clinical and genetic diversities of Charcot-Marie-Tooth disease with MFN2 mutations in a large case study 査読

Masahiro Ando, Akihiro Hashiguchi, Yuji Okamoto, Akiko Yoshimura, Yu Hiramatsu, Junhui Yuan, Yujiro Higuchi, Jun Mitsui, Hiroyuki Ishiura, Ayako Umemura, Koichi Maruyama, Takeshi Matsushige, Shinichi Morishita, Masanori Nakagawa, Shoji Tsuji, Hiroshi Takashima

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM 22 ( 3 ) 191 - 199 2017年9月

Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease 査読

Ishiura Hiroyuki, Mitsui Jun, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Hamada Masashi, Goto Jun, Tsuji Shoji

NEUROLOGY AND CLINICAL NEUROSCIENCE 5 ( 4 ) 124 - 126 2017年7月

Three-Year Follow-Up of High-Dose Ubiquinol Supplementation in a Case of Familial Multiple System Atrophy with Compound Heterozygous COQ2 Mutations 査読

Jun Mitsui, Ken Koguchi, Toshimitsu Momose, Miwako Takahashi, Takashi Matsukawa, Tsutomu Yasuda, Shin-ichi Tokushige, Hiroyuki Ishiura, Jun Goto, Shigeaki Nakazaki, Tomoyoshi Kondo, Hidefumi Ito, Yorihiro Yamamoto, Shoji Tsuji

CEREBELLUM 16 ( 3 ) 664 - 672 2017年6月

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype 査読

Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe

JOURNAL OF THE NEUROLOGICAL SCIENCES 375 424 - 429 2017年4月

TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy 査読

Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji, Hiroyuki Nunoi

JOURNAL OF HUMAN GENETICS 62 ( 4 ) 473 - 480 2017年4月

Authors' response to "Compound heterozygous Fukutin mutation-related non-compaction" by Finsterer and Zarrouk-Mahjoub 査読

Eisuke Amiya, Hiroyuki Morita, Hiroyuki Ishiura, Shoji Tsuji, Issei Komuro

INTERNATIONAL JOURNAL OF CARDIOLOGY 233 102 - 102 2017年4月

Novel GBE1 mutation in a Japanese family with adult polyglucosan body disease. 査読国際誌

Harigaya Y, Matsukawa T, Fujita Y, Mizushima K, Ishiura H, Mitsui J, Morishita S, Shoji M, Ikeda Y, Tsuji S

Neurology. Genetics 3 ( 2 ) e138 2017年4月

Slowly progressive D-bifunctional protein deficiency with survival to adulthood diagnosed by whole-exome sequencing 査読

Takashi Matsukawa, Kagari Mano Koshi, Jun Mitsui, Taro Bannai, Miho Kawabe, Hiroyuki Ishiura, Yasuo Terao, Jun Shimizu, Keiko Murayama, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Jun Goto

JOURNAL OF THE NEUROLOGICAL SCIENCES 372 6 - 10 2017年1月

Novel mutation in the SOD1 gene in a patient with early-onset, rapidly progressive amyotrophic lateral sclerosis. 査読

kazaki M, Suzuki H, Takahashi Y, Ishiura H, Goto J, Hirano M, Saigoh K, Nakamura Y, Naruse H, Mitsui J, Tsuji S, Kusunoki S

Neurol Clin Neurosci 5 189 - 191 2017年

Fukutin gene mutations that cause left ventricular noncompaction 査読

Eisuke Amiya, Hiroyuki Morita, Masaru Hatanoa, Daisuke Nitta, Yumiko Hosoya, Hisataka Maki, Yoshihiro Motozawa, Naoko Sato, Hiroyuki Ishiura, Satoe Numakura, Yukako Shintani, Koichiro Kinugawa, Norifumi Takeda, Jun Shimizu, Shoji Tsuji, Issei Komuro

INTERNATIONAL JOURNAL OF CARDIOLOGY 222 727 - 729 2016年11月

Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines 査読

Koki Fujimori, Toshiki Tezuka, Hiroyuki Ishiura, Jun Mitsui, Koichiro Doi, Jun Yoshimura, Hirobumi Tada, Takuya Matsumoto, Miho Isoda, Ryota Hashimoto, Nubutaka Hattori, Takuya Takahashi, Shinichi Morishita, Shoji Tsuji, Wado Akamatsu, Hideyuki Okano

MOLECULAR BRAIN 9 ( 1 ) 88 2016年10月

AgIn: measuring the landscape of CpG methylation of individual repetitive elements 査読

Yuta Suzuki, Jonas Korlach, Stephen W. Turner, Tatsuya Tsukahara, Junko Taniguchi, Wei Qu, Kazuki Ichikawa, Jun Yoshimura, Hideaki Yurino, Yuji Takahashi, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroyuki Takeda, Shinichi Morishita

BIOINFORMATICS 32 ( 19 ) 2911 - 2919 2016年10月

Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance 査読

Mitsui Jun, Ishiura Hiroyuki, Yoshimura Jun, Doi Koichiro, Morishita Shinichi, Shoji Hiroshi, Arimori Yojiro, Matsumoto Takafumi, Shimizu Jun, Tsuji Shoji

NEUROLOGY AND CLINICAL NEUROSCIENCE 4 ( 5 ) 189 - 191 2016年9月

Plasma Coenzyme Q10 Levels in Patients With Multiple System Atrophy 査読

Jun Mitsui, Takashi Matsukawa, Tsutomu Yasuda, Hiroyuki Ishiura, Shoji Tsuji

JAMA NEUROLOGY 73 ( 8 ) 977 - 980 2016年8月

Human genetic variation database, a reference database of genetic variations in the Japanese population. 査読国際誌

Koichiro Higasa, Noriko Miyake, Jun Yoshimura, Kohji Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen-Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto, Fumihiko Matsuda

Journal of human genetics 61 ( 6 ) 547 - 53 2016年6月

記述言語：英語掲載種別：研究論文（学術雑誌）

Whole-genome and -exome resequencing using next-generation sequencers is a powerful approach for identifying genomic variations that are associated with diseases. However, systematic strategies for prioritizing causative variants from many candidates to explain the disease phenotype are still far from being established, because the population-specific frequency spectrum of genetic variation has not been characterized. Here, we have collected exomic genetic variation from 1208 Japanese individuals through a collaborative effort, and aggregated the data into a prevailing catalog. In total, we identified 156 622 previously unreported variants. The allele frequencies for the majority (88.8%) were lower than 0.5% in allele frequency and predicted to be functionally deleterious. In addition, we have constructed a Japanese-specific major allele reference genome by which the number of unique mapping of the short reads in our data has increased 0.045% on average. Our results illustrate the importance of constructing an ethnicity-specific reference genome for identifying rare variants. All the collected data were centralized to a newly developed database to serve as useful resources for exploring pathogenic variations. Public access to the database is available at http://www.genome.med.kyoto-u.ac.jp/SnpDB/.

DOI： 10.1038/jhg.2016.12

PubMed

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Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8 査読

Yuta Ichinose, Kishin Koh, Megumi Fukumoto, Nobuo Yamashiro, Fumikazu Kobayashi, Michiaki Miwa, Takamura Nagasaka, Kazumasa Shindo, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama

CLINICAL NEUROLOGY AND NEUROSURGERY 144 36 - 38 2016年5月

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