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57 results for Miya,+Fuyuki

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ArticlesPeer ReviewedFull Text
BED-Craft for nanopore adaptive sampling: a tool for generating bed files with gene names as input data for enrichment sequencing
Author / Creator:Miya, Fuyuki ; Kosaki, Kenjiro
Publisher:England: BioMed Central Ltd
Journal title:BMC research notes, 2025-02, Vol.18 (1), p.79-7, Article 79
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Gene-based Hardy-Weinberg equilibrium test using genotype count data: application to six types of cancers
Author / Creator:Nishino, Jo ; Miya, Fuyuki ; Kato, Mamoru
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2025-02, Vol.26 (1), p.124-10
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Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice
Author / Creator:Nishiguchi, Koji M. ; Fujita, Kosuke ; Miya, Fuyuki ; Katayama, Shota ; Nakazawa, Toru
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2020-01, Vol.11 (1), p.482-9, Article 482
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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders
Author / Creator:Kato, Kohji ; Miya, Fuyuki ; Oka, Yasuyoshi ; Mizuno, Seiji ; Saitoh, Shinji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-05, Vol.66 (5), p.491-498
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Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy
Author / Creator:Takamatsu, Kimiharu ; Tanaka, Nobuyuki ; Hakozaki, Kyohei ; Takahashi, Ryohei ; Teranishi, Yu ; Murakami, Tetsushi ; Kufukihara, Ryohei ; Niwa, Naoya ; Mikami, Shuji ; Shinojima, Toshiaki ; Sasaki, Takashi ; Sato, Yusuke ; Kume, Haruki ; Ogawa, Seishi ; Kakimi, Kazuhiro ; Kamatani, Takashi ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Aimono, Eriko ; Nishihara, Hiroshi ; Sawada, Kazuaki ; Imamura, Takeshi ; Mizuno, Ryuichi ; Oya, Mototsugu
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2021-09, Vol.12 (1), p.5547-12, Article 5547
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Efficacy of ethosuximide on atonic seizures with KCNB1 mutation
Author / Creator:Hoshino, Hiroki ; Fuyuki Miya ; Kato, Mitsuhiro ; Kanemura, Hideaki
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Pediatric investigation, 2022-01, Vol.64 (1)
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Landscape of prognostic signatures and immunogenomics of the AXL/GAS6 axis in renal cell carcinoma
Author / Creator:Hakozaki Kyohei ; Tanaka, Nobuyuki ; Takamatsu Kimiharu ; Takahashi, Ryohei ; Yasumizu Yota ; Mikami Shuji ; Shinojima Toshiaki ; Kakimi Kazuhiro ; Kamatani Takashi ; Fuyuki, Miya ; Tsunoda Tatsuhiko ; Aimono Eriko ; Nishihara, Hiroshi ; Mizuno Ryuichi ; Oya Mototsugu
Publisher:London: Nature Publishing Group
Journal title:British journal of cancer, 2021-11, Vol.125 (11), p.1533-1543
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Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
Author / Creator:Fujimoto, Akihiro ; Totoki, Yasushi ; Abe, Tetsuo ; Boroevich, Keith A ; Hosoda, Fumie ; Nguyen, Ha Hai ; Aoki, Masayuki ; Hosono, Naoya ; Kubo, Michiaki ; Miya, Fuyuki ; Arai, Yasuhito ; Takahashi, Hiroyuki ; Shirakihara, Takuya ; Nagasaki, Masao ; Shibuya, Tetsuo ; Nakano, Kaoru ; Watanabe-Makino, Kumiko ; Tanaka, Hiroko ; Nakamura, Hiromi ; Kusuda, Jun ; Ojima, Hidenori ; Shimada, Kazuaki ; Okusaka, Takuji ; Ueno, Masaki ; Shigekawa, Yoshinobu ; Kawakami, Yoshiiku ; Arihiro, Koji ; Ohdan, Hideki ; Gotoh, Kunihito ; Ishikawa, Osamu ; Ariizumi, Shun-ichi ; Yamamoto, Masakazu ; Yamada, Terumasa ; Chayama, Kazuaki ; Kosuge, Tomoo ; Yamaue, Hiroki ; Kamatani, Naoyuki ; Miyano, Satoru ; Nakagama, Hitoshi ; Nakamura, Yusuke ; Tsunoda, Tatsuhiko ; Shibata, Tatsuhiro ; Nakagawa, Hidewaki
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-07, Vol.44 (7), p.760-764
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Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis
Author / Creator:Ishigaki, Kazuyoshi ; Kochi, Yuta ; Suzuki, Akari ; Tsuchida, Yumi ; Tsuchiya, Haruka ; Sumitomo, Shuji ; Yamaguchi, Kensuke ; Nagafuchi, Yasuo ; Nakachi, Shinichiro ; Kato, Rika ; Sakurai, Keiichi ; Shoda, Hirofumi ; Ikari, Katsunori ; Taniguchi, Atsuo ; Yamanaka, Hisashi ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Okada, Yukinori ; Momozawa, Yukihide ; Kamatani, Yoichiro ; Yamada, Ryo ; Kubo, Michiaki ; Fujio, Keishi ; Yamamoto, Kazuhiko
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2017-07, Vol.49 (7), p.1120-1125
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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans
Author / Creator:Mutai, Hideki ; Wasano, Koichiro ; Momozawa, Yukihide ; Kamatani, Yoichiro ; Miya, Fuyuki ; Masuda, Sawako ; Morimoto, Noriko ; Nara, Kiyomitsu ; Takahashi, Satoe ; Tsunoda, Tatsuhiko ; Homma, Kazuaki ; Kubo, Michiaki ; Matsunaga, Tatsuo
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2020-04, Vol.16 (4), p.e1008643
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ArticlesPeer ReviewedFull Text
Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci
Author / Creator:Yamaguchi, Kensuke ; Ishigaki, Kazuyoshi ; Suzuki, Akari ; Tsuchida, Yumi ; Tsuchiya, Haruka ; Sumitomo, Shuji ; Nagafuchi, Yasuo ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Shoda, Hirofumi ; Fujio, Keishi ; Yamamoto, Kazuhiko ; Kochi, Yuta
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2022-08, Vol.13 (1), p.4659-13, Article 4659
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ArticlesPeer ReviewedFull Text
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Author / Creator:Yamada, Mamiko ; Maeta, Kazuhiro ; Suzuki, Hisato ; Kurosawa, Ryo ; Takenouchi, Toshiki ; Awaya, Tomonari ; Ajiro, Masahiko ; Takeuchi, Atsuko ; Nishio, Hisahide ; Hagiwara, Masatoshi ; Miya, Fuyuki ; Matsuo, Masafumi ; Kosaki, Kenjiro
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-03, Vol.14 (1), p.6506-13, Article 6506
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ArticlesPeer ReviewedFull Text
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases
Author / Creator:Kato, Daiki ; Mitsuhashi, Satomi ; Miya, Fuyuki ; Saitoh, Shinji ; Okamoto, Nobuhiko ; Tsunoda, Tatsuhiko ; Kochi, Yuta
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2022-12, Vol.67 (12), p.739-742
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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis
Author / Creator:Watanabe, Daisuke ; Okamoto, Nobuhiko ; Kobayashi, Yuichi ; Suzuki, Hisato ; Kato, Mitsuhiro ; Saitoh, Shinji ; Kanemura, Yonehiro ; Takenouchi, Toshiki ; Yamada, Mamiko ; Nakato, Daisuke ; Sato, Masayuki ; Tsunoda, Tatsuhiko ; Kosaki, Kenjiro ; Miya, Fuyuki
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-08, Vol.14 (1), p.19741-10, Article 19741
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ArticlesPeer ReviewedFull Text
Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Author / Creator:Okamoto Nobuhiko ; Fuyuki, Miya ; Tsunoda Tatsuhiko ; Kanemura Yonehiro ; Saitoh Shinji ; Kato Mitsuhiro ; Yanagi Kumiko ; Kaname Tadashi ; Kosaki Kenjiro
Publisher:Milano: Springer Nature B.V
Journal title:Neurological sciences, 2022-04, Vol.43 (4), p.2765-2774
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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome
Author / Creator:Kato, Kohji ; Miya, Fuyuki ; Hamada, Nanako ; Negishi, Yutaka ; Narumi-Kishimoto, Yoko ; Ozawa, Hiroshi ; Ito, Hidenori ; Hori, Ikumi ; Hattori, Ayako ; Okamoto, Nobuhiko ; Kato, Mitsuhiro ; Tsunoda, Tatsuhiko ; Kanemura, Yonehiro ; Kosaki, Kenjiro ; Takahashi, Yoshiyuki ; Nagata, Koh-ichi ; Saitoh, Shinji
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2019-06, Vol.56 (6), p.388-395
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ArticlesPeer ReviewedFull Text
KIF1A mutation in a patient with progressive neurodegeneration
Author / Creator:Okamoto, Nobuhiko ; Miya, Fuyuki ; Tsunoda, Tatsuhiko ; Yanagihara, Keiko ; Kato, Mitsuhiro ; Saitoh, Shinji ; Yamasaki, Mami ; Kanemura, Yonehiro ; Kosaki, Kenjiro
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-11, Vol.59 (11), p.639-641
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Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling
Author / Creator:Rashid, Muhammad Irfanur ; Ito, Takuji ; Miya, Fuyuki ; Shimojo, Daisuke ; Arimoto, Kanae ; Onodera, Kazunari ; Okada, Rina ; Nagashima, Takunori ; Yamamoto, Kazuki ; Khatun, Zohora ; Shimul, Rayhanul Islam ; Niwa, Jun-ichi ; Katsuno, Masahisa ; Sobue, Gen ; Okano, Hideyuki ; Sakurai, Hidetoshi ; Shimizu, Kazunori ; Doyu, Manabu ; Okada, Yohei
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-05, Vol.13 (1), p.8146-22, Article 8146
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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report
Author / Creator:Yamada, Mamiko ; Suzuki, Hisato ; Adachi, Hiroyuki ; Noguchi, Atsuko ; Miya, Fuyuki ; Takahashi, Tsutomu ; Kosaki, Kenjiro
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2022-01, Vol.22 (1), p.20-5, Article 20
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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
Author / Creator:Nikopoulos, Konstantinos ; Cisarova, Katarina ; Quinodoz, Mathieu ; Koskiniemi-Kuendig, Hanna ; Miyake, Noriko ; Farinelli, Pietro ; Rehman, Atta Ur ; Khan, Muhammad Imran ; Prunotto, Andrea ; Akiyama, Masato ; Kamatani, Yoichiro ; Terao, Chikashi ; Miya, Fuyuki ; Ikeda, Yasuhiro ; Ueno, Shinji ; Fuse, Nobuo ; Murakami, Akira ; Wada, Yuko ; Terasaki, Hiroko ; Sonoda, Koh-Hei ; Ishibashi, Tatsuro ; Kubo, Michiaki ; Cremers, Frans P. M. ; Kutalik, Zoltán ; Matsumoto, Naomichi ; Nishiguchi, Koji M. ; Nakazawa, Toru ; Rivolta, Carlo
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-06, Vol.10 (1), p.2884-7, Article 2884
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Showing 1 to 20 of 57 results

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BED-Craft for nanopore adaptive sampling: a tool for generating bed files with gene names as input data for enrichment sequencing

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Gene-based Hardy-Weinberg equilibrium test using genotype count data: application to six types of cancers

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Single AAV-mediated mutation replacement genome editing in limited number of photoreceptors restores vision in mice

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A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders

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Profiling the inhibitory receptors LAG-3, TIM-3, and TIGIT in renal cell carcinoma reveals malignancy

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Efficacy of ethosuximide on atonic seizures with KCNB1 mutation

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Landscape of prognostic signatures and immunogenomics of the AXL/GAS6 axis in renal cell carcinoma

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Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators

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Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis

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Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

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Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci

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Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration

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Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases

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Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis

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Four pedigrees with aminoacyl-tRNA synthetase abnormalities

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MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

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KIF1A mutation in a patient with progressive neurodegeneration

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Simple and efficient differentiation of human iPSCs into contractible skeletal muscles for muscular disease modeling

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Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report

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A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

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