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Miki Suzuki, Yuki Mochida, Mao Hori, Akimasa Hayashi, Kazuko Toh, Theofilus A. Tockary, Xueying Liu, Victor Marx, Hidetomo Yokoo, Kanjiro Miyata, Makoto Oba, Satoshi Uchida*: Poly(ethylene Glycol) (PEG)–OligoRNA Hybridization to mRNA Enables Fine‐Tuned Polyplex PEGylation for Spleen‐Targeted mRNA Delivery Small Science. 2024.02; ( DOI )

Yum J, Aulia F, Kamiya K, Hori M, Qiao N, Kim BS, Naito M, Ogura S, Nagata T, Yokota T, Uchida S, Obika S, Kim HJ, Miyata K: Hydrophobicity Tuning of Cationic Polyaspartamide Derivatives for Enhanced Antisense Oligonucleotide Delivery. Bioconjugate chemistry. 2024.01; 35 (2): 125-131. ( PubMed , DOI )

Lucas Mixich, Eger Boonstra, Keita Masuda, Shang-Wei Li, Yuki Nakashima, Fanlu Meng, Momoko Sakata, Tatsuro Goda, Satoshi Uchida, Horacio Cabral*: Ionizable Polymeric Micelles with Phenylalanine Moieties Enhance Intracellular Delivery of Self-Replicating RNA for Long-Lasting Protein Expression In Vivo Biomacromolecules. 2024.01; 25 (2): 1058-1067. ( DOI )

Hidetomo Yokoo*, Anjaneyulu Dirisala, Satoshi Uchida, Makoto Oba*: Oligosarcosine Conjugation of Arginine-Rich Peptides Improves the Intracellular Delivery of Peptide/pDNA Complexes ACS Biomaterials Science & Engineering. 2023.12; 10 (2): 890-896. ( DOI )

Tsuyuzaki K, Ishii M, Nikaido I: Sctensor detects many-to-many cell-cell interactions from single cell RNA-sequencing data. BMC bioinformatics. 2023.11; 24 (1): 420. ( PubMed , DOI )

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Chisato Ono, Shinya Tanaka, Keiko Myouzen, Takeshi Iwasaki, Mahoko Ueda, Yoshinao Oda, Kazuhiko Yamamoto, Yuta Kochi, Yoshihiro Baba: Upregulated Fcrl5 disrupts B cell anergy causes autoimmune disease Frontiers in Immunology. 2023.09; 14 276014. ( DOI )

Mahoko Takahashi Ueda: Retrotransposon-derived transcripts and their functions associated with immunity and disease Genes & Genetic Systems. 2023.09; in press

Bekker GJ, Numoto N, Kawasaki M, Hayashi T, Yabuno S, Kozono Y, Shimizu T, Kozono H, Ito N, Oda M, Kamiya N: Elucidation of binding mechanism, affinity and complex structure between mWT1 tumor-associated antigen peptide and HLA-A*24:02. Protein Science. 2023.09; 32 (10): e4775. ( PubMed , DOI )

Yuya Hanazono, Yu Hirano, Taro Tamada, Kunio Miki: Description of peptide bond planarity from high-resolution neutron crystallography Biophysics and Physicobiology. 2023.09; 20 (3): e200035.

Ogura Nao, Sasagawa Yohei, Ito Tasuku, Tameshige Toshiaki, Kawai Satomi, Sano Masaki, Doll Yuki, Iwase Akira, Kawamura Ayako, Suzuki Takamasa, Nikaido Itoshi, Sugimoto Keiko, Ikeuchi Momoko: WUSCHEL-RELATED HOMEOBOX 13 suppresses de novo shoot regeneration via cell fate control of pluripotent callus SCIENCE ADVANCES. 2023.07; 9 (27): eadg6983. ( PubMed , DOI )

Theofilus A Tockary, Saed Abbasi, Miki Matsui-Masai, Akimasa Hayashi, Naoto Yoshinaga, Eger Boonstra, Zheng Wang, Shigeto Fukushima, Kazunori Kataoka, Satoshi Uchida: Comb-structured mRNA vaccine tethered with short double-stranded RNA adjuvants maximizes cellular immunity for cancer treatment. Proc Natl Acad Sci U S A. 2023.07; 120 (29): e2214320120. ( PubMed , DOI )

Mitsui Y, Suzuki T, Kuniyoshi K, Inamo J, Yamaguchi K, Komuro M, Watanabe J, Edamoto M, Li S, Kouno T, Oba S, Hosoya T, Masuhiro K, Naito Y, Koyama S, Sakaguchi N, Standley DM, Shin JW, Akira S, Yasuda S, Miyazaki Y, Kochi Y, Kumanogoh A, Okamoto T, Satoh T: Expression of the readthrough transcript CiDRE in alveolar macrophages boosts SARS-CoV-2 susceptibility and promotes COVID-19 severity. Immunity. 2023.07; 56 (8): 1939-1954.e12. ( PubMed , DOI )

Tsuyuzaki Koki, Yamamoto Kentaro, Toyoshima Yu, Sato Hirofumi, Kanamori Manami, Teramoto Takayuki, Ishihara Takeshi, Iino Yuichi, Nikaido Itoshi: WormTensor: a clustering method for time-series whole-brain activity data from C. elegans BMC BIOINFORMATICS. 2023.06; 24 (1): 254. ( PubMed , DOI )

Satoshi Uchida, Chun Yin Jerry Lau, Makoto Oba, Kanjiro Miyata: Polyplex Designs for Improving the Stability and Safety of RNA Therapeutics. Advanced Drug Delivery Reviews . 2023.06; 199 114972. ( DOI )

Takada Hitomi, Sasagawa Yohei, Yoshimura Mika, Tanaka Kaori, Iwayama Yoshimi, Hayashi Tetsutaro, Isomura-Matoba Ayako, Nikaido Itoshi, Kurisaki Akira: Single-cell transcriptomics uncovers EGFR signaling-mediated gastric progenitor cell differentiation in stomach homeostasis NATURE COMMUNICATIONS. 2023.06; 14 (1): 3750. ( PubMed , DOI )

Nao Otomo, Anas M Khanshour, Masaru Koido, Kazuki Takeda, Yukihide Momozawa, Michiaki Kubo, Yoichiro Kamatani, John A Herring, Yoji Ogura, Yohei Takahashi, Shohei Minami, Koki Uno, Noriaki Kawakami, Manabu Ito, Tatsuya Sato, Kei Watanabe, Takashi Kaito, Haruhisa Yanagida, Hiroshi Taneichi, Katsumi Harimaya, Yuki Taniguchi, Hideki Shigematsu, Takahiro Iida, Satoru Demura, Ryo Sugawara, Nobuyuki Fujita, Mitsuru Yagi, Eijiro Okada, Naobumi Hosogane, Katsuki Kono, Masaya Nakamura, Kazuhiro Chiba, Toshiaki Kotani, Tsuyoshi Sakuma, Tsutomu Akazawa, Teppei Suzuki, Kotaro Nishida, Kenichiro Kakutani, Taichi Tsuji, Hideki Sudo, Akira Iwata, Satoshi Inami, Carol A Wise, Yuta Kochi, Morio Matsumoto, Shiro Ikegawa, Kota Watanabe, Chikashi Terao: Evidence of causality of low body mass index on risk of adolescent idiopathic scoliosis: a Mendelian randomization study. Front Endocrinol (Lausanne). 2023.06; 14 1089414. ( PubMed , DOI )

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Fujitani H, Eguchi H, Kochi Y, Arai T, Muramatsu M, Okazaki Y: Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP). 2023.05; 32 (3): 286-297. ( PubMed , DOI )

nnTensor: An R package for non-negative matrix/tensor decomposition. 2023.04; ( DOI )

Makoto Oba, Mika Shibuya, Yuto Yamaberi, Hidetomo Yokoo, Satoshi Uchida, Atsushi Ueda, Masakazu Tanaka: An Amphipathic Structure of a Dipropylglycine-Containing Helical Peptide with Sufficient Length Enables Safe and Effective Intracellular siRNA Delivery Chemical and Pharmaceutical Bulletin. 2023.03; 71 250-256. ( DOI )

Spatial and single-cell transcriptomics decipher the cellular environment containing HLA-G+ cancer cells and SPP1+ macrophages in colorectal cancer. 2023.01; 42 (1): 111929. ( PubMed , DOI )

Mwalilino Lusubilo, Yamane Mariko, Ishiguro Kei-ichiro, Usuki Shingo, Endoh Mitsuhiro, Niwa Hitoshi: The Role of Zfp352 in the regulation of transient expression of 2-cell specific genes in mouse embryonic stem cells Genes to Cells. 2023;

Hall D, Basu G, Ito N: Computational biophysics and structural biology of proteins-a Special Issue in honor of Prof. Haruki Nakamura's 70th birthday. Biophysical reviews. 2022.12; 14 (6): 1211-1222. ( PubMed , DOI )

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Nucleic Acid-triggered Tumoral Immunity Propagates pH-selective Therapeutic Antibodies through Tumor-driven Epitope Spreading. 2022.09; 114 (1): 321-338. ( PubMed , DOI )

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Wibisana Johannes N., Inaba Takehiko, Shinohara Hisaaki, Yumoto Noriko, Hayashi Tetsutaro, Umeda Mana, Ebisawa Masashi, Nikaido Itoshi, Sako Yasushi, Okada Mariko: Enhanced transcriptional heterogeneity mediated by NF-kappa B super-enhancers PLOS GENETICS. 2022.06; 18 (6): e1010235. ( PubMed , DOI )

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Iwasaki Y, Takeshima Y, Nakano M, Okubo M, Ota M, Suzuki A, Kochi Y, Okamura T, Endo T, Miki I, Sakurada K, Yamamoto K, Fujio K: Combined plasma metabolomic and transcriptomic analysis identify histidine as a biomarker and potential contributor in SLE pathogenesis. Rheumatology (Oxford, England). 2022.06; 62 (2): 905-913. ( PubMed , DOI )

Sano H, Nakamura A, Yamane M, Niwa H, Nishimura T, Araki K, Takemoto K, Ishiguro KI, Aoki H, Kato Y, Kojima M: The polyol pathway is an evolutionarily conserved system for sensing glucose uptake. PLoS biology. 2022.06; 20 (6): e3001678. ( PubMed , DOI )

Naoko Abe, Akihiro Imaeda, Masahito Inagaki, Zhenmin Li, Daisuke Kawaguchi, Kaoru Onda, Yuko Nakashima, Satoshi Uchida, Fumitaka Hashiya, Yasuaki Kimura, Hiroshi Abe: Complete Chemical Synthesis of Minimal Messenger RNA by Efficient Chemical Capping Reaction ACS Chemical Biology. 2022.05; 17 (6): 1308-1314. ( DOI )

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang YF, Amano K, Park DJ, Yang W, Tada Y, Lau YL, Yamaji K, Zhu Z, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head., Yamamoto K, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC: Biological insights into systemic lupus erythematosus through an immune cell-specific transcriptome-wide association study. Annals of the rheumatic diseases. 2022.05; 81 (9): 1273-80. ( PubMed , DOI )

Hanazono Yuya, Hirano Yu, Takeda Kazuki, Kusaka Katsuhiro, Tamada Taro, Miki Kunio: Revisiting the concept of peptide bond planarity in an iron-sulfur protein by neutron structure analysis SCIENCE ADVANCES. 2022.05; 8 (20): eabn2276. ( PubMed , DOI )

Nobutaka Numoto, Seiko Onoda, Yoshiaki Kawano, Hideo Okumura, Seiki Baba, Yoshihiro Fukumori, Kunio Miki, Nobutoshi Ito: Structures of oxygen dissociation intermediates of 400 kDa V2 hemoglobin provide coarse snapshots of the protein allostery. Biophys Physicobiol. 2022.05; 19 1-10. ( PubMed , DOI )

Lin Chia-Wen, Septyaningtrias Dian E., Chao Hsu-Wen, Konda Mikiko, Atarashi Koji, Takeshita Kozue, Tamada Kota, Nomura Jun, Sasagawa Yohei, Tanaka Kaori, Nikaido Itoshi, Honda Kenya, McHugh Thomas J., Takumi Toru: A common epigenetic mechanism across different cellular origins underlies systemic immune dysregulation in an idiopathic autism mouse model MOLECULAR PSYCHIATRY. 2022.05; 27 (8): 3343-3354. ( PubMed , DOI )

Satoshi Uchida: Delivery Systems of Plasmid DNA and Messenger RNA for Advanced Therapies Pharmaceutics. 2022.04; 14 (4): 810. ( DOI )

Takeshima Y, Iwasaki Y, Nakano M, Narushima Y, Ota M, Nagafuchi Y, Sumitomo S, Okamura T, Elkon K, Ishigaki K, Suzuki A, Kochi Y, Yamamoto K, Fujio K: Immune cell multiomics analysis reveals contribution of oxidative phosphorylation to B-cell functions and organ damage of lupus. Annals of the rheumatic diseases. 2022.03; 81 (6): 845-853. ( PubMed , DOI )

Anjaneyulu Dirisala, Satoshi Uchida, Junjie Li, Joachim F. R. Van Guyse, Kotaro Hayashi, Sai V. C. Vummaleti, Sarandeep Kaur, Yuki Mochida, Shigeto Fukushima, Kazunori Kataoka: Effective mRNA Protection by Poly(l-ornithine) Synergizes with Endosomal Escape Functionality of a Charge-Conversion Polymer toward Maximizing mRNA Introduction Efficiency Macromolecular Rapid Communications. 2022.03; 43 (12): 2100754. ( DOI )

Basu G, Hall D, Ito N: Special Issue call: Computational biophysics and structural biology of proteins-A Special Issue in honor of Prof. Haruki Nakamura's 70th birthday. Biophysical reviews. 2022.02; 14 (1): 21-22. ( PubMed , DOI )

Yasuyuki Shima, Henrik Skibbe, Yohei Sasagawa, Noriko Fujimori, Itoshi Nikaido, Nobutaka Hattori, Tadafumi Kato: Distinctiveness and continuity in transcriptome and connectivity in the anterior-posterior axis of the paraventricular nucleus of thalamus bioRxiv (preprint). 2022.02; ( DOI )

Oda Masayuki, Sano Tomoki, Kamatari Yuji O., Abe Yoshito, Ikura Teikichi, Ito Nobutoshi: Structural Analysis of Hen Egg Lysozyme Refolded after Denaturation at Acidic pH PROTEIN JOURNAL. 2022.02; 41 (1): 71-78. ( PubMed , DOI )

Honda S, Ikari K, Yano K, Terao C, Tanaka E, Harigai M, Kochi Y: Polygenic risk scores are associated with radiographic progression in patients with rheumatoid arthritis. Arthritis & rheumatology (Hoboken, N.J.). 2022.01; 74 (5): 791-800. ( PubMed , DOI )

Yasuhiro Nakagawa, Jeonggyu Lee, Yihua Liu, Saed Abbasi, Taehun Hong, Horacio Cabral, Satoshi Uchida, Mitsuhiro Ebara: Microglial Immunoregulation by Apoptotic Cellular Membrane Mimetic Polymeric Particles ACS Macro Letters. 2022.01; 11 (2): 270-275. ( DOI )

Fujioka Toshifumi, Numoto Nobutaka, Akama Hiroyuki, Shilpa Kola, Oka Michiko, Roy Prodip K., Krishna Yarkali, Ito Nobutoshi, Baker David, Oda Masayuki, Tanaka Fujie: Varying the Directionality of Protein Catalysts for Aldol and Retro-Aldol Reactions CHEMBIOCHEM. 2022.01; 23 (2): e202100435. ( PubMed , DOI )

Yoshihara Ayana, Kawasaki Haru, Masuno Hiroyuki, Takada Koki, Numoto Nobutaka, Ito Nobutoshi, Hirata Naoya, Kanda Yasunari, Ishizawa Michiyasu, Makishima Makoto, Kagechika Hiroyuki, Tanatani Aya: Lithocholic Acid Amides as Potent Vitamin D Receptor Agonists BIOMOLECULES. 2022.01; 12 (1): ( PubMed , DOI )

Numoto Nobutaka, Onoda Seiko, Kawano Yoshiaki, Okumura Hideo, Baba Seiki, Fukumori Yoshihiro, Miki Kunio, Ito Nobutoshi: 400kDa V2ヘモグロビンの酸素解離中間体の構造は蛋白質アロステリーの粗スナップショットを提供する(Structures of oxygen dissociation intermediates of 400 kDa V2 hemoglobin provide coarse snapshots of the protein allostery) Biophysics and Physicobiology. 2022; 19 e190019_1-e190019_10. ( 医中誌 )

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Naoto Yoshinaga, Satoshi Uchida, Anjaneyulu Dirisala, Mitsuru Naito, Kyoko Koji, Kensuke Osada, Horacio Cabral, Kazunori Kataoka: Bridging mRNA and Polycation Using RNA Oligonucleotide Derivatives Improves the Robustness of Polyplex Micelles for Efficient mRNA Delivery Advanced Healthcare Materials. 2021.12; 11 (9): 2102016. ( DOI )

Hidetomo Yokoo, Makoto Oba, Satoshi Uchida: Cell-Penetrating Peptides: Emerging Tools for mRNA Delivery Pharmaceutics. 2021.12; 14 (1): 78. ( DOI )

Suetsugu H, Kim K, Yamamoto T, Bang SY, Sakamoto Y, Shin JM, Sugano N, Kim JS, Mukai M, Lee YK, Ohmura K, Park DJ, Takahashi D, Ahn GY, Karino K, Kwon YC, Miyamura T, Kim J, Nakamura J, Motomura G, Kuroda T, Niiro H, Miyamoto T, Takeuchi T, Ikari K, Amano K, Tada Y, Yamaji K, Shimizu M, Atsumi T, Seki T, Tanaka Y, Kubo T, Hisada R, Yoshioka T, Yamazaki M, Kabata T, Kajino T, Ohta Y, Okawa T, Naito Y, Kaneuji A, Yasunaga Y, Ohzono K, Tomizuka K, Koido M, Matsuda K, Okada Y, Suzuki A, Kim BJ, Kochi Y, Lee HS, Ikegawa S, Bae SC, Terao C: Novel susceptibility loci for steroid-associated osteonecrosis of the femoral head in systemic lupus erythematosus. Human molecular genetics. 2021.12; 31 (7): 1082-1095. ( PubMed , DOI )

Junjie Li, Zhishen Ge, Kazuko Toh, Xueying Liu, Anjaneyulu Dirisala, Wendong Ke, Panyue Wen, Hang Zhou, Zheng Wang, Shiyan Xiao, Joachim F. R. Van Guyse, Theofilus A. Tockary, Jinbing Xie, Daniel Gonzalez-Carter, Hiroaki Kinoh, Satoshi Uchida, Yasutaka Anraku, Kazunori Kataoka: Enzymatically Transformable Polymersome-Based Nanotherapeutics to Eliminate Minimal Relapsable Cancer Advanced Materials . 2021.10; 33 (49): 2105254. ( DOI )

Rimpei Kamegawa, Mitsuru Naito, Satoshi Uchida, Hyun Jin Kim, Beob Soo Kim, Kanjiro Miyata: Bioinspired Silicification of mRNA-Loaded Polyion Complexes for Macrophage-Targeted mRNA Delivery ACS Applied Bio Materials. 2021.10; 4 (11): 7790-779. ( DOI )

Tanaka H, Kondo K, Fujita K, Homma H, Tagawa K, Jin X, Jin M, Yoshioka Y, Takayama S, Masuda H, Tokuyama R, Nakazaki Y, Saito T, Saido T, Murayama S, Ikura T, Ito N, Yamamori Y, Tomii K, Bianchi ME, Okazawa H: HMGB1 signaling phosphorylates Ku70 and impairs DNA damage repair in Alzheimer's disease pathology. Commun Biol. 2021.10; 4 (1): 1175. ( PubMed , DOI )

Satoshi Uchida, Yuto Yamaberi, Masakazu Tanaka, Makoto Oba: A helix foldamer oligopeptide improves intracellular stability and prolongs protein expression of the delivered mRNA Nanoscale. 2021.09; 13 (45): 18941-18946. ( DOI )

Kondo K, Ikura T, Tanaka H, Fujita K, Takayama S, Yoshioka Y, Tagawa K, Homma H, Liu S, Kawasaki R, Huang Y, Ito N, Tate SI, Okazawa H: Hepta-Histidine Inhibits Tau Aggregation. ACS Chem Neurosci. 2021.08; 12 (16): 3015-3027. ( PubMed , DOI )

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Yamada A, Hirasawa T, Nishimura K, Shimura C, Kogo N, Fukuda K, Kato M, Yokomori M, Hayashi T, Umeda M, Yoshimura M, Iwakura Y, Nikaido I, Itohara S, Shinkai Y: Derepression of inflammation-related genes link to microglia activation and neural maturation defect in a mouse model of Kleefstra syndrome. iScience. 2021.07; 24 (7): 102741. ( PubMed , DOI )

Mishina Tappei, Tabata Namine, Hayashi Tetsutaro, Yoshimura Mika, Umeda Mana, Mori Masashi, Ikawa Yayoi, Hamada Hiroshi, Nikaido Itoshi, Kitajima Tomoya S.: Single-oocyte transcriptome analysis reveals aging-associated effects influenced by life stage and calorie restriction AGING CELL. 2021.07; e13428. ( PubMed , DOI )

Ishihara S, Sasagawa Y, Kameda T, Yamashita H, Umeda M, Kotomura N, Abe M, Shimono Y, Nikaido I: Local states of chromatin compaction at transcription start sites control transcription levels. Nucleic acids research. 2021.07; ( PubMed , DOI )

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Yosuke Inoue, Yuya Hanazono, Kentaro Noi, Akihiro Kawamoto, Masato Kimatsuka, Ryuhei Harada, Kazuki Takeda, Ryoichi Kita, Natsuki Iwamasa, Kyoka Shibata, Keiichi Noguchi, Yasuteru Shigeta, Keiichi Namba, Teru Ogura, Kunio Miki, Kyosuke Shinohara, Masafumi Yohda: Split conformation of Chaetomium thermophilum Hsp104 disaggregase. Structure. 2021.07; 29 (7): 721-730. ( PubMed , DOI )

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Tanaka N, Koido M, Suzuki A, Otomo N, Suetsugu H, Kochi Y, Tomizuka K, Momozawa Y, Kamatani Y, Biobank Japan Project., Ikegawa S, Yamamoto K, Terao C: Eight novel susceptibility loci and putative causal variants in atopic dermatitis. The Journal of allergy and clinical immunology. 2021.06; 148 (5): 1293-1306. ( PubMed , DOI )

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Kosugi Y, Uriu K, Suzuki N, Yamamoto K, Nagaoka S, Kimura I, Konno Y, Aso H, Willett BJ, Kobayashi T, Koyanagi Y, Ueda MT, Ito J, Sato K: Comprehensive Investigation on the Interplay between Feline APOBEC3Z3 Proteins and Feline Immunodeficiency Virus Vif Proteins. Journal of virology. 2021.06; 95 (13): e0017821. ( PubMed , DOI )

Eger Boonstra, Hiroaki Hatano, Yuji Miyahara, Satoshi Uchida, Tatsuro Goda, Horacio Cabral: A proton/macromolecule-sensing approach distinguishes changes in biological membrane permeability during polymer/lipid-based nucleic acid delivery Journal of Materials Chemistry B. 2021.05; 9 (21): 4298-4302. ( DOI )

Naoto Yoshinaga, Mitsuru Naito, Yoshihiro Tachihara, Eger Boonstra, Kensuke Osada, Horacio Cabral, Satoshi Uchida: PEGylation of mRNA by Hybridization of Complementary PEG-RNA Oligonucleotides Stabilizes mRNA without Using Cationic Materials Pharmaceutics. 2021.05; 13 (6): 800. ( DOI )

Saed Abbasi, Satoshi Uchida: Multifunctional Immunoadjuvants for Use in Minimalist Nucleic Acid Vaccines Pharmaceutics. 2021.05; 13 (5): 644. ( DOI )

Singh B, Maiti GP, Zhou X, Fazel-Najafabadi M, Bae SC, Sun C, Terao C, Okada Y, Chua KH, Kochi Y, Guthridge JM, Zhang H, Weirauch M, James JA, Harley JB, Varshney GK, Looger LL, Nath SK: Lupus susceptibility region containing CDKN1B rs34330 mechanistically influences expression and function of multiple target genes, also linked to proliferation and apoptosis. Arthritis & rheumatology (Hoboken, N.J.). 2021.05; 73 (12): 2303-2313. ( PubMed , DOI )

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Matsuzawa Ayumi, Lee Jiyoung, Nakagawa So, Itoh Johbu, Takahashi Ueda Mahoko, Mitsuhashi Satomi, Kochi Yuta, Kaneko-Ishino Tomoko, Ishino Fumitoshi: HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2021.05; 22 (9): ( DOI )

Mitsuhashi Satomi, Nakagawa So, Sasaki-Honda Mitsuru, Sakurai Hidetoshi, Frith Martin C., Mitsuhashi Hiroaki: Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells HUMAN MOLECULAR GENETICS. 2021.04; 30 (7): 552-563. ( PubMed , DOI )

Mizuguchi Takeshi, Toyota Tomoko, Miyatake Satoko, Mitsuhashi Satomi, Doi Hiroshi, Kudo Yosuke, Kishida Hitaru, Hayashi Noriko, Tsuburaya Rie S., Kinoshita Masako, Fukuyama Tetsuhiro, Fukuda Hiromi, Koshimizu Eriko, Tsuchida Naomi, Uchiyama Yuri, Fujita Atsushi, Takata Atsushi, Miyake Noriko, Kato Mitsuhiro, Tanaka Fumiaki, Adachi Hiroaki, Matsumoto Naomichi: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment BRAIN. 2021.04; 144 (4): 1103-1117. ( PubMed , DOI )

Fukushima Yuta, Uchida Satoshi, Imai Hideaki, Nakatomi Hirofumi, Kataoka Kazunori, Saito Nobuhito, Itaka Keiji: Treatment of ischemic neuronal death by introducing brain-derived neurotrophic factor mRNA using polyplex nanomicelle BIOMATERIALS. 2021.03; 270 120681. ( PubMed , DOI )

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Chikuma S, Yamanaka S, Nakagawa S, Ueda MT, Hayabuchi H, Tokifuji Y, Kanayama M, Okamura T, Arase H, Yoshimura A: TRIM28 Expression on Dendritic Cells Prevents Excessive T Cell Priming by Silencing Endogenous Retrovirus. Journal of immunology (Baltimore, Md. : 1950). 2021.02; 206 (7): 1528-1539. ( PubMed , DOI )

Inamo J, Kochi Y, Takeuchi T: Is type 2 diabetes mellitus an inverse risk factor for the development of rheumatoid arthritis? Journal of human genetics. 2021.02; 66 (2): 219-223. ( PubMed , DOI )

Saed Abbasi, Satoshi Uchida, Kazuko Toh, Theofilus A. Tockary, Anjaneyulu Dirisala, Kotaro Hayashi, Shigeto Fukushima, Kazunori Kataoka: Co-encapsulation of Cas9 mRNA and guide RNA in polyplex micelles enables genome editing in mouse brain Journal of Controlled Release. 2021.02; 332 260-268. ( DOI )

Senga Akane, Numoto Nobutaka, Yamashita Mitsuaki, Iida Akira, Ito Nobutoshi, Kawai Fusako, Oda Masayuki: Multiple structural states of Ca2+-regulated PET hydrolase, Cut190, and its correlation with activity and stability The Journal of Biochemistry. 2021.02; 169 (2): 207-213. ( 医中誌 )

Naganuma H, Miike K, Ohmori T, Tanigawa S, Ichikawa T, Yamane M, Eto M, Niwa H, Kobayashi A, Nishinakamura R: Molecular detection of maturation stages in the developing kidney. Developmental biology. 2021.02; 470 62-73. ( PubMed , DOI )

Bing N, Zhou H, Chen X, Hirose T, Kochi Y, Tsuchida Y, Ishigaki K, Sumitomo S, Fujio K, Zhang B, Valdez H, Vincent MS, Martin D, Clark JD: Contribution of a European-Prevalent Variant near CD83 and an East Asian-Prevalent Variant near IL17RB to Herpes Zoster Risk in Tofacitinib Treatment: Results of Genome-Wide Association Study Meta-Analyses. Arthritis & rheumatology (Hoboken, N.J.). 2021.01; 73 (7): 1155-1166. ( PubMed , DOI )

Alborzian Deh Sheikh A, Gomaa S, Li X, Routledge M, Saigoh K, Numoto N, Angata T, Hitomi Y, Takematsu H, Tsuiji M, Ito N, Kusunoki S, Tsubata T: A Guillain-Barré syndrome-associated SIGLEC10 rare variant impairs its recognition of gangliosides. Journal of autoimmunity. 2021.01; 116 102571. ( PubMed , DOI )

Mitsuhashi S, Frith MC, Matsumoto N: Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population. BMC medical genomics. 2021.01; 14 (1): 17. ( PubMed , DOI )

Frith MC, Mitsuhashi S, Katoh K: lamassemble: Multiple Alignment and Consensus Sequence of Long Reads. Methods in molecular biology (Clifton, N.J.). 2021; 2231 135-145. ( PubMed , DOI )

Hirabayashi A, Yahara K, Mitsuhashi S, Nakagawa S, Imanishi T, Ha VTT, Nguyen AV, Nguyen ST, Shibayama K, Suzuki M: Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam. PloS one. 2021; 16 (7): e0231119. ( PubMed , DOI )

Yin X, Kim K, Suetsugu H, Bang SY, Wen L, Koido M, Ha E, Liu L, Sakamoto Y, Jo S, Leng RX, Otomo N, Laurynenka V, Kwon YC, Sheng Y, Sugano N, Hwang MY, Li W, Mukai M, Yoon K, Cai M, Ishigaki K, Chung WT, Huang H, Takahashi D, Lee SS, Wang M, Karino K, Shim SC, Zheng X, Miyamura T, Kang YM, Ye D, Nakamura J, Suh CH, Tang Y, Motomura G, Park YB, Ding H, Kuroda T, Choe JY, Li C, Niiro H, Park Y, Shen C, Miyamoto T, Ahn GY, Fei W, Takeuchi T, Shin JM, Li K, Kawaguchi Y, Lee YK, Wang Y, Amano K, Park DJ, Yang W, Tada Y, Yamaji K, Shimizu M, Atsumi T, Suzuki A, Sumida T, Okada Y, Matsuda K, Matsuo K, Kochi Y, Japanese Research Committee on Idiopathic Osteonecrosis of the Femoral Head., Kottyan LC, Weirauch MT, Parameswaran S, Eswar S, Salim H, Chen X, Yamamoto K, Harley JB, Ohmura K, Kim TH, Yang S, Yamamoto T, Kim BJ, Shen N, Ikegawa S, Lee HS, Zhang X, Terao C, Cui Y, Bae SC: Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. Annals of the rheumatic diseases. 2020.12; 80 (5): 632-640. ( PubMed , DOI )

Naoto Yoshinaga, Satoshi Uchida, Anjaneyulu Dirisala, Mitsuru Naito, Kensuke Osada, Horacio Cabral, Kazunori Kataoka: mRNA loading into ATP-responsive polyplex micelles with optimal density of phenylboronate ester crosslinking to balance robustness in the biological milieu and intracellular translational efficiency 2020.12; 330 317-328. ( DOI )

Iiyama M, Numoto N, Ogawa S, Kuroda M, Morii H, Abe R, Ito N, Oda M: Molecular interactions of the CTLA-4 cytoplasmic region with the phosphoinositide 3-kinase SH2 domains. Molecular immunology. 2020.12; 131 51-59. ( PubMed , DOI )

Emori Miho, Numoto Nobutaka, Senga Akane, Bekker Gert-Jan, Kamiya Narutoshi, Kobayashi Yuma, Ito Nobutoshi, Kawai Fusako, Oda Masayuki: Structural basis of mutants of PET-degrading enzyme from Saccharomonospora viridis AHK190 with high activity and thermal stability PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS. 2020.12; 89 (5): 502-511. ( PubMed , DOI )

Sasaki H, Masuno H, Kawasaki H, Yoshihara A, Numoto N, Ito N, Ishida H, Yamamoto K, Hirata N, Kanda Y, Kawachi E, Kagechika H, Tanatani A: Lithocholic Acid Derivatives as Potent Vitamin D Receptor Agonists. Journal of medicinal chemistry. 2020.12; 64 (1): 516-526. ( PubMed , DOI )

Hiromoto Y, Azuma Y, Suzuki Y, Hoshina M, Uchiyama Y, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kato M, Matsumoto N: Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia. Human genome variation. 2020.12; 7 (1): 43. ( PubMed , DOI )

Tsuchiya H, Ota M, Sumitomo S, Ishigaki K, Suzuki A, Sakata T, Tsuchida Y, Inui H, Hirose J, Kochi Y, Kadono Y, Shirahige K, Tanaka S, Yamamoto K, Fujio K: Parsing multiomics landscape of activated synovial fibroblasts highlights drug targets linked to genetic risk of rheumatoid arthritis. Annals of the rheumatic diseases. 2020.11; 80 (4): 440-450. ( PubMed , DOI )

Miyazaki Takuya, Uchida Satoshi, Hatano Hiroaki, Miyahara Yuji, Matsumoto Akira, Cabral Horacio: Guanidine-phosphate interactions stabilize polyion complex micelles based on flexible catiomers to improve mRNA delivery EUROPEAN POLYMER JOURNAL. 2020.11; 140 ( DOI )

Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N: Whole exome sequencing of fetal structural anomalies detected by ultrasonography. Journal of human genetics. 2020.11; ( PubMed , DOI )

Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N: Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of human genetics. 2020.10; ( PubMed , DOI )

Matthew H Bailey, William U Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, , , Gordon Saksena, Kyle Ellrott, Michael C Wendl, David A Wheeler, Gad Getz, Jared T Simpson, Mark B Gerstein, Li Ding, : Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples. Nat Commun. 2020.09; 11 (1): 4748. ( PubMed , DOI )

Senga A, Numoto N, Yamashita M, Iida A, Ito N, Kawai F, Oda M: Multiple structural states of Ca2+ regulated PET hydrolase, Cut190, and its correlation with activity and stability. Journal of biochemistry. 2020.09; 169 (2): 207-213. ( PubMed , DOI )

Sakamoto M, Kouhei D, Haniffa M, Silva S, Troncoso M, Santander P, Schonstedt V, Stecher X, Okamoto N, Hamanaka K, Mizuguchi T, Mitsuhashi S, Miyake N, Matsumoto N: A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction. Journal of human genetics. 2020.09; 65 (9): 751-757. ( PubMed , DOI )

Nakano Y, Yamamoto K, Ueda MT, Soper A, Konno Y, Kimura I, Uriu K, Kumata R, Aso H, Misawa N, Nagaoka S, Shimizu S, Mitsumune K, Kosugi Y, Juarez-Fernandez G, Ito J, Nakagawa S, Ikeda T, Koyanagi Y, Harris RS, Sato K: A role for gorilla APOBEC3G in shaping lentivirus evolution including transmission to humans. PLoS pathogens. 2020.09; 16 (9): e1008812. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. 2020.09; 65 (9): 811. ( PubMed , DOI )

Doi H, Okubo M, Fukai R, Fujita A, Mitsuhashi S, Takahashi K, Kunii M, Tada M, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F: Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy". Annals of neurology. 2020.09; 88 (3): 642-643. ( PubMed , DOI )

Hasegawa T, Hayashi S, Shimizu E, Mizuno S, Niida A, Yamaguchi R, Miyano S, Nakagawa H, Imoto S: Neoantimon: a multifunctional R package for identification of tumor-specific neoantigens. Bioinformatics (Oxford, England). 2020.09; 36 (18): 4813-4816. ( PubMed , DOI )

Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N: De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. Journal of human genetics. 2020.09; 65 (9): 727-734. ( PubMed , DOI )

Ueda Mahoko Takahashi, Kryukov Kirill, Mitsuhashi Satomi, Mitsuhashi Hiroaki, Imanishi Tadashi, Nakagawa So: Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains MOBILE DNA. 2020.09; 11 (1): 29. ( PubMed , DOI )

Sawada Tomoyo, Chater Thomas E., Sasagawa Yohei, Yoshimura Mika, Fujimori-Tonou Noriko, Tanaka Kaori, Benjamin Kynon J. M., Paquola Apua C. M., Erwin Jennifer A., Goda Yukiko, Nikaido Itoshi, Kato Tadafumi: Developmental excitation-inhibition imbalance underlying psychoses revealed by single-cell analyses of discordant twins-derived cerebral organoids MOLECULAR PSYCHIATRY. 2020.08; 25 (11): 2695-2711. ( PubMed , DOI )

Constance H Li, Stephenie D Prokopec, Ren X Sun, Fouad Yousif, Nathaniel Schmitz, Paul C Boutros, PCAWG Consortium (Satoru Miyano, et al.): Sex differences in oncogenic mutational processes. Nat Commun. 2020.08; 11 (1): 4330. ( PubMed , DOI )

Satoshi Uchida, Federico Perche, Chantal Pichon, Horacio Cabral: Nanomedicine-Based Approaches for mRNA Delivery Molecular Pharmaceutics. 2020.08; 17 (10): 3654-3684. ( DOI )

Kyoko Koji, Naoto Yoshinaga, Yuki Mochida, Taehun Hong, Takuya Miyazaki, Kazunori Kataoka, Kensuke Osada, Horacio Cabral, Satoshi Uchida: Bundling of mRNA strands inside polyion complexes improves mRNA delivery efficiency in vitro and in vivo Biomaterials. 2020.08; 261 120332. ( DOI )

Lei M, Liang D, Yang Y, Mitsuhashi S, Katoh K, Miyake N, Frith MC, Wu L, Matsumoto N: Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4. Journal of human genetics. 2020.08; 65 (8): 667-674. ( PubMed , DOI )

Ikura Teikichi, Ito Nobutoshi: Pin1の変異体C113AとC113Sの構造解析(Structural analysis of Pin1 mutants C113A And C113S) 生物物理. 2020.08; 60 (Suppl.1-2): S144. ( 医中誌 )

Mitsuhashi S, Ohori S, Katoh K, Frith MC, Matsumoto N: A pipeline for complete characterization of complex germline rearrangements from long DNA reads. Genome medicine. 2020.07; 12 (1): 67. ( PubMed , DOI )

Kryukov Kirill, Ueda Mahoko Takahashi, Nakagawa So, Imanishi Tadashi: Sequence Compression Benchmark (SCB) database-A comprehensive evaluation of reference-free compressors for FASTA-formatted sequences GIGASCIENCE. 2020.07; 9 (7): ( PubMed , DOI )

Oka A, Takagi A, Komiyama E, Yoshihara N, Mano S, Hosomichi K, Suzuki S, Haida Y, Motosugi N, Hatanaka T, Kimura M, Ueda MT, Nakagawa S, Miura H, Ohtsuka M, Tanaka M, Komiyama T, Otomo A, Hadano S, Mabuchi T, Beck S, Inoko H, Ikeda S: Alopecia areata susceptibility variant in MHC region impacts expressions of genes contributing to hair keratinization and is involved in hair loss. EBioMedicine. 2020.07; 57 102810. ( PubMed , DOI )

Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N: Prenatal clinical manifestations in individuals with COL4A1/2 variants. Journal of medical genetics. 2020.07; ( PubMed , DOI )

Ishigaki K, Akiyama M, Kanai M, Takahashi A, Kawakami E, Sugishita H, Sakaue S, Matoba N, Low SK, Okada Y, Terao C, Amariuta T, Gazal S, Kochi Y, Horikoshi M, Suzuki K, Ito K, Koyama S, Ozaki K, Niida S, Sakata Y, Sakata Y, Kohno T, Shiraishi K, Momozawa Y, Hirata M, Matsuda K, Ikeda M, Iwata N, Ikegawa S, Kou I, Tanaka T, Nakagawa H, Suzuki A, Hirota T, Tamari M, Chayama K, Miki D, Mori M, Nagayama S, Daigo Y, Miki Y, Katagiri T, Ogawa O, Obara W, Ito H, Yoshida T, Imoto I, Takahashi T, Tanikawa C, Suzuki T, Sinozaki N, Minami S, Yamaguchi H, Asai S, Takahashi Y, Yamaji K, Takahashi K, Fujioka T, Takata R, Yanai H, Masumoto A, Koretsune Y, Kutsumi H, Higashiyama M, Murayama S, Minegishi N, Suzuki K, Tanno K, Shimizu A, Yamaji T, Iwasaki M, Sawada N, Uemura H, Tanaka K, Naito M, Sasaki M, Wakai K, Tsugane S, Yamamoto M, Yamamoto K, Murakami Y, Nakamura Y, Raychaudhuri S, Inazawa J, Yamauchi T, Kadowaki T, Kubo M, Kamatani Y: Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases. Nature genetics. 2020.07; 52 (7): 669-679. ( PubMed , DOI )

Michida Hiroki, Imoto Hiroaki, Shinohara Hisaaki, Yumoto Noriko, Seki Masahide, Umeda Mana, Hayashi Tetsutaro, Nikaido Itoshi, Kasukawa Takeya, Suzuki Yutaka, Okada-Hatakeyama Mariko: The Number of Transcription Factors at an Enhancer Determines Switch-like Gene Expression CELL REPORTS. 2020.06; 31 (9): 107724. ( PubMed , DOI )

Ochiai Hiroshi, Hayashi Tetsutaro, Umeda Mana, Yoshimura Mika, Harada Akihito, Shimizu Yukiko, Nakano Kenta, Saitoh Noriko, Liu Zhe, Yamamoto Takashi, Okamura Tadashi, Ohkawa Yasuyuki, Kimura Hiroshi, Nikaido Itoshi: Genome-wide kinetic properties of transcriptional bursting in mouse embryonic stem cells SCIENCE ADVANCES. 2020.06; 6 (25): eaaz6699. ( PubMed , DOI )

Shiozawa Seiji, Nakajima Mayutaka, Okahara Junko, Kuortaki Yoko, Kisa Fumihiko, Yoshimatsu Sho, Nakamura Mari, Koya Ikuko, Yoshimura Mika, Sasagawa Yohei, Nikaido Itoshi, Sasaki Erika, Okano Hideyuki: Primed to Naive-Like Conversion of the Common Marmoset Embryonic Stem Cells STEM CELLS AND DEVELOPMENT. 2020.06; 29 (12): 761-773. ( PubMed , DOI )

Mereu Elisabetta, Lafzi Atefeh, Moutinho Catia, Ziegenhain Christoph, McCarthy Davis J., Alvarez-Varela Adrian, Batlle Eduard, Sagar, Gruen Dominic, Lau Julia K., Boutet Stephane C., Sanada Chad, Ooi Aik, Jones Robert C., Kaihara Kelly, Brampton Chris, Talaga Yasha, Sasagawa Yohei, Tanaka Kaori, Hayashi Tetsutaro, Braeuning Caroline, Fischer Cornelius, Sauers Sascha, Trefzer Timo, Conrad Christian, Adiconis Xian, Nguyen Lan T., Regev Aviv, Levin Joshua Z., Parekh Swati, Janjic Aleksandar, Wange Lucas E., Bagnoli Johannes W., Enard Wolfgang, Gut Marta, Sandberg Rickard, Nikaido Itoshi, Gut Ivo, Stegle Oliver, Heyn Holger: Benchmarking single-cell RNA-sequencing protocols for cell atlas projects NATURE BIOTECHNOLOGY. 2020.06; 38 (6): 747-+. ( PubMed , DOI )

Takuya Miyazaki, Satoshi Uchida, Satoru Nagatoishi, Kyoko Koji, Taehun Hong, Shigeto Fukushima, Kouhei Tsumoto, Kazuhiko Ishihara, Kazunori Kataoka, Horacio Cabral: Polymeric nanocarriers with controlled chain flexibility boost mRNA delivery in vivo through enhanced structural fastening Advanced Healthcare Materials. 2020.06; 9 (16): 2000538. ( DOI )

Anjaneyulu Dirisala, Satoshi Uchida, Kazuko Toh, Junjie Li, Shigehito Osawa, Theofilus A. Tockary, Xueying Liu, Saed Abbasi, Kotaro Hayashi, Yuki Mochida, Shigeto Fukushima, Hiroaki Kinoh, Kensuke Osada, Kazunori Kataoka: Transient stealth coating of liver sinusoidal wall by anchoring two-armed PEG for retargeting nanomedicines Science Advances. 2020.06; 6 (26): eabb8133. ( DOI )

Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM: Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020.06; 94 (23): e2441-e2447. ( PubMed , DOI )

Ohori S, Mitsuhashi S, Ben-Haim R, Heyman E, Sengoku T, Ogata K, Matsumoto N: A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly. Journal of human genetics. 2020.05; 65 (5): 481-485. ( PubMed , DOI )

Takemoto K, Tani N, Takada-Horisawa Y, Fujimura S, Tanno N, Yamane M, Okamura K, Sugimoto M, Araki K, Ishiguro KI: Meiosis-Specific C19orf57/4930432K21Rik/BRME1 Modulates Localization of RAD51 and DMC1 to DSBs in Mouse Meiotic Recombination. Cell reports. 2020.05; 31 (8): 107686. ( PubMed , DOI )

Nakamura H, Doi H, Mitsuhashi S, Miyatake S, Katoh K, Frith MC, Asano T, Kudo Y, Ikeda T, Kubota S, Kunii M, Kitazawa Y, Tada M, Okamoto M, Joki H, Takeuchi H, Matsumoto N, Tanaka F: Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS. Journal of human genetics. 2020.05; 65 (5): 475-480. ( PubMed , DOI )

Ryosuke Ueki, Satoshi Uchida, Naoto Kanda, Naoki Yamada, Ayaka Ueki, Momoko Akiyama, Kazuko Toh, Horacio Cabral, Shinsuke Sando: A chemically unmodified agonistic DNA with growth factor functionality for in vivo therapeutic application Science Advances. 2020.04; 6 (14): eaay2801. ( DOI )

Uchida S, Yanagihara K, Matsui A, Kataoka K, Itaka K: mRNA as a Tool for Gene Transfection in 3D Cell Culture for Future Regenerative Therapy. Micromachines. 2020.04; 11 (4): ( PubMed , DOI )

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Hamanaka K, Imagawa E, Koshimizu E, Miyatake S, Tohyama J, Yamagata T, Miyauchi A, Ekhilevitch N, Nakamura F, Kawashima T, Goshima Y, Mohamed AR, Ch'ng GS, Fujita A, Azuma Y, Yasuda K, Imamura S, Nakashima M, Saitsu H, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Matsumoto N: De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy. American journal of human genetics. 2020.04; 106 (4): 549-558. ( PubMed , DOI )

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Fujita M, Yamaguchi R, Hasegawa T, Shimada S, Arihiro K, Hayashi S, Maejima K, Nakano K, Fujimoto A, Ono A, Aikata H, Ueno M, Hayami S, Tanaka H, Miyano S, Yamaue H, Chayama K, Kakimi K, Tanaka S, Imoto S, Nakagawa H: Classification of primary liver cancer with immunosuppression mechanisms and correlation with genomic alterations. EBioMedicine. 2020.03; 53 102659. ( PubMed , DOI )

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Lina Sieverling, Chen Hong, Sandra D Koser, Philip Ginsbach, Kortine Kleinheinz, Barbara Hutter, Delia M Braun, Isidro Cortés-Ciriano, Ruibin Xi, Rolf Kabbe, Peter J Park, Roland Eils, Matthias Schlesner, , Benedikt Brors, Karsten Rippe, David T W Jones, Lars Feuerbach, PCAWG Consortium (Satoru Miyano, et al.): Genomic footprints of activated telomere maintenance mechanisms in cancer. Nat Commun. 2020.02; 11 (1): 733. ( PubMed , DOI )

Horibata Y, Mitsuhashi S, Shimizu H, Maejima S, Sakamoto H, Aoyama C, Ando H, Sugimoto H: The phosphatidylcholine transfer protein StarD7 is important for myogenic differentiation in mouse myoblast C2C12 cells and human primary skeletal myoblasts. Scientific reports. 2020.02; 10 (1): 2845. ( PubMed , DOI )

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Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig 2020.02; 11 (1): ( DOI )

Sakaguchi S, Nakagawa S, Mitsuhashi S, Ogawa M, Sugiyama K, Tamukai K, Koide R, Katayama Y, Nakano T, Makino S, Imanishi T, Miyazawa T, Mizutani T: Molecular characterization of feline paramyxovirus in Japanese cat populations. Archives of virology. 2020.02; 165 (2): 413-418. ( PubMed , DOI )

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns 2020.02; 11 (1): ( DOI )

Ishiguro KI, Matsuura K, Tani N, Takeda N, Usuki S, Yamane M, Sugimoto M, Fujimura S, Hosokawa M, Chuma S, Ko MSH, Araki K, Niwa H: MEIOSIN Directs the Switch from Mitosis to Meiosis in Mammalian Germ Cells. Developmental cell. 2020.02; 52 (4): 429-445.e10. ( PubMed , DOI )

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Yuya Hanazono, Kazuki Takeda, Kunio Miki: Characterization of perdeuterated high-potential iron-sulfur protein with high-resolution X-ray crystallography. Proteins. 2020.02; 88 (2): 251-259. ( PubMed , DOI )

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Mitsuhashi S, Matsumoto N: Long-read sequencing for rare human genetic diseases. Journal of human genetics. 2020.01; 65 (1): 11-19. ( PubMed , DOI )

Miyake N, Takahashi H, Nakamura K, Isidor B, Hiraki Y, Koshimizu E, Shiina M, Sasaki K, Suzuki H, Abe R, Kimura Y, Akiyama T, Tomizawa SI, Hirose T, Hamanaka K, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Obo K, Kato M, Ogata K, Matsumoto N: Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities. American journal of human genetics. 2020.01; 106 (1): 13-25. ( PubMed , DOI )

Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H: Correction: Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2020.01; 477 (2): 357. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Nonsense variants of STAG2 result in distinct congenital anomalies. Human genome variation. 2020; 7 26. ( PubMed , DOI )

Nasser H, Adhikary P, Abdel-Daim A, Noyori O, Panaampon J, Kariya R, Okada S, Ma W, Baba M, Takizawa H, Yamane M, Niwa H, Suzu S: Establishment of bone marrow-derived M-CSF receptor-dependent self-renewing macrophages. Cell death discovery. 2020; 6 63. ( PubMed , DOI )

Tomoko Saito, Atsushi Niida, Ryutaro Uchi, Hidenari Hirata, Hisateru Komatsu, Shotaro Sakimura, Shuto Hayashi, Sho Nambara, Yosuke Kuroda, Shuhei Ito, Hidetoshi Eguchi, Takaaki Masuda, Keishi Sugimachi, Taro Tobo, Haruto Nishida, Tsutomu Daa, Kenichi Chiba, Yuichi Shiraishi, Tetsuichi Yoshizato, Masaaki Kodama, Tadayoshi Okimoto, Kazuhiro Mizukami, Ryo Ogawa, Kazuhisa Okamoto, Mitsutaka Shuto, Kensuke Fukuda, Yusuke Matsui, Teppei Shimamura, Takanori Hasegawa, Yuichiro Doki, Satoshi Nagayama, Kazutaka Yamada, Mamoru Kato, Tatsuhiro Shibata, Masaki Mori, Hiroyuki Aburatani, Kazunari Murakami, Yutaka Suzuki, Seishi Ogawa, Satoru Miyano, Koshi Mimori: A temporal shift of the evolutionary principle shaping intratumor heterogeneity in colorectal cancer. Nat Commun. 2020; 9 (1): 2884. ( PubMed , DOI )

Okumura Akinori, Hayashi Tetsutaro, Ebisawa Masashi, Yoshimura Mika, Sasagawa Yohei, Nikaido Itoshi, Umesono Yoshihiko, Mochii Makoto: Cell type-specific transcriptome analysis unveils secreted signaling molecule genes expressed in apical epithelial cap during appendage regeneration DEVELOPMENT GROWTH & DIFFERENTIATION. 2019.12; 61 (9): 447-456. ( PubMed , DOI )

Hirotaka Matsumoto, Tetsutaro Hayashi, Haruka Ozaki, Koki Tsuyuzaki, Mana Umeda, Tsuyoshi Iida, Masaya Nakamura, Hideyuki Okano, Itoshi Nikaido: A NMF based approach to discover overlooked differentially expressed gene regions from single-cell RNA-seq NAR Genomics and Bioinformatics. 2019.12; 2 (1): lqz020.

Okubo M, Doi H, Fukai R, Fujita A, Mitsuhashi S, Hashiguchi S, Kishida H, Ueda N, Morihara K, Ogasawara A, Kawamoto Y, Takahashi T, Takahashi K, Nakamura H, Kunii M, Tada M, Katsumoto A, Fukuda H, Mizuguchi T, Miyatake S, Miyake N, Suzuki J, Ito Y, Sone J, Sobue G, Takeuchi H, Matsumoto N, Tanaka F: GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy. Annals of neurology. 2019.12; 86 (6): 962-968. ( PubMed , DOI )

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N: Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics. 2019.12; 64 (12): 1173-1186. ( PubMed , DOI )

Yang Tai, Kiyofumi Takaba, Yuya Hanazono, Hoang Anh Dao, Kunio Miki, Kazuki Takeda: X-ray crystallographic studies on the hydrogen isotope effects of green fluorescent protein at sub-ångström resolutions. Acta Crystallogr D Struct Biol. 2019.12; 75 (12): 1096-1106. ( PubMed , DOI )

Aoyama C, Horibata Y, Ando H, Mitsuhashi S, Arai M, Sugimoto H: Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity. The Biochemical journal. 2019.12; 476 (24): 3721-3736. ( PubMed , DOI )

Beob Soo Kim, Shigehito Osawa, Mitsuru Naito, Satomi Ogura, Rimpei Kamegawa, Hiroki Ishida, Hyun Jin Kim, Satoshi Uchida, Kanjiro Miyata: A 50-nm-Sized Micellar Assembly of Thermoresponsive Polymer-Antisense Oligonucleotide Conjugates for Enhanced Gene Knockdown in Lung Cancer by Intratracheal Administration Advanced Therapeutics. 2019.11; 3 (2): 1900123. ( DOI )

Ono Chisato, Kochi Yuta, Tanaka Shinya, Yamamoto Kazuhiko, Baba Yoshihiro: Systemic lupus erythematosus and other systemic autoimmune diseases　Role of Fcrl5 in B cell immune response and peripheral tolerance(和訳中) 日本免疫学会総会・学術集会記録. 2019.11; 48 (Proceedings): 2-B. ( 医中誌 )

A Bayesian model integration for mutation calling through data partitioning 2019.11; 35 (21): 4247-4254. ( PubMed , DOI )

Theofilus A. Tockary, Wanling Foo, Anjaneyulu Dirisala, Qixian Chen, Satoshi Uchida, Shigehito Osawa, Yuki Mochida, Xueying Liu, Hiroaki Kinoh, Horacio Cabral, Kensuke Osada, Kazunori Kataoka: Single-Stranded DNA-Packaged Polyplex Micelle as Adeno-Associated-Virus-Inspired Compact Vector to Systemically Target Stroma-Rich Pancreatic Cancer ACS Nano. 2019.10; 13 (11): 12732-12742. ( DOI )

Nishiguchi A, Numoto N, Ito N, Azuma T, Oda M: Three-dimensional structure of a high affinity anti-(4-hydroxy-3-nitrophenyl)acetyl antibody possessing a glycine residue at position 95 of the heavy chain. Molecular immunology. 2019.10; 114 545-552. ( PubMed , DOI )

Kryukov K, Ueda MT, Nakagawa S, Imanishi T: Nucleotide Archival Format (NAF) enables efficient lossless reference-free compression of DNA sequences. Bioinformatics (Oxford, England). 2019.10; 35 (19): 3826-3828. ( PubMed , DOI )

Den K, Kudo Y, Kato M, Watanabe K, Doi H, Tanaka F, Oguni H, Miyatake S, Mizuguchi T, Takata A, Miyake N, Mitsuhashi S, Matsumoto N: Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report. BMC neurology. 2019.10; 19 (1): 253. ( PubMed , DOI )

Aoi H, Mizuguchi T, Ceroni JR, Kim VEH, Furquim I, Honjo RS, Iwaki T, Suzuki T, Sekiguchi F, Uchiyama Y, Azuma Y, Hamanaka K, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Bertola DR, Kim CA, Matsumoto N: Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome. Journal of human genetics. 2019.10; 64 (10): 967-978. ( PubMed , DOI )

Uchiyama Y, Kim CA, Pastorino AC, Ceroni J, Lima PP, de Barros Dorna M, Honjo RS, Bertola D, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Mizuguchi T, Matsumoto N: Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant. Journal of human genetics. 2019.09; 64 (9): 955-960. ( PubMed , DOI )

Alphlard-nt: Bayesian method for human leukocyte antigen genotyping and mutation calling through simultaneous analysis of normal and tumor whole-genome sequence data 2019.09; 26 (9): 923-937. ( PubMed , DOI )

Saida K, Kim CA, Ceroni JRM, Bertola DR, Honjo RS, Mitsuhashi S, Takata A, Mizuguchi T, Miyatake S, Miyake N, Matsumoto N: Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1. Journal of human genetics. 2019.09; 64 (9): 885-890. ( PubMed , DOI )

Masuno Hiroyuki, Kazui Yuko, Tanatani Aya, Fujii Shinya, Kawachi Emiko, Ikura Teikichi, Ito Nobutoshi, Yamamoto Keiko, Kagechika Hiroyuki: Development of novel lithocholic acid derivatives as vitamin D receptor agonists BIOORGANIC & MEDICINAL CHEMISTRY. 2019.08; 27 (16): 3674-3681. ( PubMed , DOI )

Den K, Kato M, Yamaguchi T, Miyatake S, Takata A, Mizuguchi T, Miyake N, Mitsuhashi S, Matsumoto N: A novel de novo frameshift variant in SETD1B causes epilepsy. Journal of human genetics. 2019.08; 64 (8): 821-827. ( PubMed , DOI )

Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, Koike H, Hashiguchi A, Takashima H, Sugiyama H, Kohno Y, Takiyama Y, Maeda K, Doi H, Koyano S, Takeuchi H, Kawamoto M, Kohara N, Ando T, Ieda T, Kita Y, Kokubun N, Tsuboi Y, Katoh K, Kino Y, Katsuno M, Iwasaki Y, Yoshida M, Tanaka F, Suzuki IK, Frith MC, Matsumoto N, Sobue G: Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nature genetics. 2019.08; 51 (8): 1215-1221. ( PubMed , DOI )

Numoto Nobutaka, Fukumori Yoshihiro, Miki Kunio, Ito Nobutoshi: 巨大ヘモグロビンのアロステリック中間体の時分割構造解析(Time-resolved structure analysis of allosteric intermediate of the giant hemoglobin) 生物物理. 2019.08; 59 (Suppl.1-2): S245. ( 医中誌 )

Yasukochi Shotaro, Numoto Nobutaka, Hori Kiminori, Tenno Natsuko, Tenno Takeshi, Ito Nobutoshi, Hiroaki Hidekazu: ヒトDishevelled1 PDZドメインと阻害剤の共結晶構造解析(Crystal structure of human Dishevelled1 PDZ with its inhibitor) 生物物理. 2019.08; 59 (Suppl.1-2): S240. ( 医中誌 )

Motegi T, Kochi Y, Matsuda K, Kubo M, Yamamoto K, Momozawa Y: Identification of rare coding variants in TYK2 protective for rheumatoid arthritis in the Japanese population and their effects on cytokine signalling. Annals of the rheumatic diseases. 2019.08; 78 (8): 1062-1069. ( PubMed , DOI )

Lei M, Mitsuhashi S, Miyake N, Ohta T, Liang D, Wu L, Matsumoto N: Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome. Journal of human genetics. 2019.07; 64 (7): 647-652. ( PubMed , DOI )

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N: RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genetics in medicine : official journal of the American College of Medical Genetics. 2019.07; 21 (7): 1629-1638. ( PubMed , DOI )

Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N: Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma. Neurology. 2019.07; 93 (3): e237-e251. ( PubMed , DOI )

Quantifying immune-based counterselection of somatic mutations 2019.07; 15 (7): e1008227. ( PubMed , DOI )

Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N: MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration. Human molecular genetics. 2019.07; 28 (14): 2319-2329. ( PubMed , DOI )

Naoto Yoshinaga, Eol Cho, Kyoko Koji, Yuki Mochida, Mitsuru Naito, Kensuke Osada, Kazunori Kataoka, Horacio Cabral, Satoshi Uchida: Bundling mRNA Strands to Prepare Nano-Assemblies with Enhanced Stability Towards RNase for In Vivo Delivery Angewandte Chemie International Edition. 2019.06; 58 (33): 11360-11363. ( DOI )

Tsuchida N, Kirino Y, Soejima Y, Onodera M, Arai K, Tamura E, Ishikawa T, Kawai T, Uchiyama T, Nomura S, Kobayashi D, Taguri M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Nakajima H, Miyatake S, Matsumoto N: Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease. Arthritis research & therapy. 2019.06; 21 (1): 137. ( PubMed , DOI )

Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N: Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing. Journal of medical genetics. 2019.06; 56 (6): 396-407. ( PubMed , DOI )

Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N: Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature communications. 2019.06; 10 (1): 2506. ( PubMed , DOI )

Aoi H, Lei M, Mizuguchi T, Nishioka N, Goto T, Miyama S, Suzuki T, Iwama K, Uchiyama Y, Mitsuhashi S, Itakura A, Takeda S, Matsumoto N: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. 2019.05; 64 (5): 487-492. ( PubMed , DOI )

Kiyofumi Takaba, Yang Tai, Haruhiko Eki, Hoang-Anh Dao, Yuya Hanazono, Kazuya Hasegawa, Kunio Miki, Kazuki Takeda: Subatomic resolution X-ray structures of green fluorescent protein. IUCrJ. 2019.05; 6 (3): 387-400. ( PubMed , DOI )

Anjaneyulu Dirisala, Satoshi Uchida, Theofilus A Tockary, Naoto Yoshinaga, Junjie Li, Shigehito Osawa, Lahari Gorantla, Shigeto Fukushima, Kensuke Osada, Kazunori Kataoka: Precise tuning of disulphide crosslinking in mRNA polyplex micelles for optimising extracellular and intracellular nuclease tolerability Journal of Drug Targeting . 2019.04; 27 (5-6): 670-680. ( DOI )

Sumiyo Watanabe, Kotaro Hayashi, Kazuko Toh, Hyun Jin Kim, Xueying Liu, Hiroyuki Chaya, Shigeto Fukushima, Keisuke Katsushima, Yutaka Kondo, Satoshi Uchida, Satomi Ogura, Takahiro Nomoto, Hiroyasu Takemoto, Horacio Cabral, Hiroaki Kinoh, Hiroyoshi Y. Tanaka, Mitsunobu R. Kano, Yu Matsumoto, Hiroshi Fukuhara, Shunya Uchida, Masaomi Nangaku, Kensuke Osada, Nobuhiro Nishiyama, Kanjiro Miyata, Kazunori Kataoka: In vivo rendezvous of small nucleic acid drugs with charge-matched block catiomers to target cancers Nature communications. 2019.04; 10 (1): 1894. ( DOI )

Shota Kurimoto, Naoto Yoshinaga, Kazunori Igarashi, Yu Matsumoto, Horacio Cabral, Satoshi Uchida: PEG-OligoRNA Hybridization of mRNA for Developing Sterically Stable Lipid Nanoparticles toward In Vivo Administration Molecules. 2019.04; 24 (7): 1303. ( DOI )

Mizuguchi T, Nakashima M, Moey LH, Ch'ng GS, Khoo TB, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Saitsu H, Matsumoto N: A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. Journal of human genetics. 2019.04; 64 (4): 347-350. ( PubMed , DOI )

Akizuki S, Ishigaki K, Kochi Y, Law SM, Matsuo K, Ohmura K, Suzuki A, Nakayama M, Iizuka Y, Koseki H, Ohara O, Hirata J, Kamatani Y, Matsuda F, Sumida T, Yamamoto K, Okada Y, Mimori T, Terao C: PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes. Annals of the rheumatic diseases. 2019.04; 78 (4): 509-518. ( PubMed , DOI )

Okada Y, Eyre S, Suzuki A, Kochi Y, Yamamoto K: Genetics of rheumatoid arthritis: 2018 status. Annals of the rheumatic diseases. 2019.04; 78 (4): 446-453. ( PubMed , DOI )

Molineros JE, Looger LL, Kim K, Okada Y, Terao C, Sun C, Zhou XJ, Raj P, Kochi Y, Suzuki A, Akizuki S, Nakabo S, Bang SY, Lee HS, Kang YM, Suh CH, Chung WT, Park YB, Choe JY, Shim SC, Lee SS, Zuo X, Yamamoto K, Li QZ, Shen N, Porter LL, Harley JB, Chua KH, Zhang H, Wakeland EK, Tsao BP, Bae SC, Nath SK: Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians. PLoS genetics. 2019.04; 15 (4): e1008092. ( PubMed , DOI )

Nakayama S, Shimonaka S, Elahi M, Nishioka K, Oji Y, Matsumoto SE, Li Y, Yoshino H, Mogushi K, Hatano T, Sato T, Ikura T, Ito N, Motoi Y, Hattori N: Tau aggregation and seeding analyses of two novel MAPT variants found in patients with motor neuron disease and progressive parkinsonism. Neurobiology of aging. 2019.03; 84 240.e13-240.e22. ( PubMed , DOI )

Hatano Hiroaki, Ota Mineto, Takeshima Yusuke, Iwasaki Yukiko, Nagafuchi Yasuo, Kochi Yuta, Shoda Hirofumi, Okamura Tomohisa, Fujio Keishi, Yamamoto Kazuhiko: 遺伝学　全身性エリテマトーデス(SLE)と関節リウマチ(RA)患者の末梢血単核球細胞(PBMCs)の多様な免疫細胞サブセットにおけるsplicing quantitative trait loci(sQTL)の影響に関する包括的研究(Genetics　A comprehensive study of splicing quantitative trait loci(sQTL) effects in various immune cell subsets in peripheral blood mononuclear cells(PBMCs) of systemic lupus erythematosus(SLE) and rheumatoid arthritis(RA) patients) 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 325. ( 医中誌 )

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Mitsuhashi S, Frith MC, Mizuguchi T, Miyatake S, Toyota T, Adachi H, Oma Y, Kino Y, Mitsuhashi H, Matsumoto N: Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads. Genome biology. 2019.03; 20 (1): 58. ( PubMed , DOI )

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Hamanaka K, Sugawara Y, Shimoji T, Nordtveit TI, Kato M, Nakashima M, Saitsu H, Suzuki T, Yamakawa K, Aukrust I, Houge G, Mitsuhashi S, Takata A, Iwama K, Alkanaq A, Fujita A, Imagawa E, Mizuguchi T, Miyake N, Miyatake S, Matsumoto N: De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. European journal of human genetics : EJHG. 2019.03; 27 (3): 378-383. ( PubMed , DOI )

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J: Correction: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics. 2019.03; 64 (3): 269. ( PubMed , DOI )

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Mitsuru Naito, Yuta Otsu, Rimpei Kamegawa, Kotaro Hayashi, Satoshi Uchida, Hyun Jin Kim, Kanjiro Miyata: Tunable nonenzymatic degradability of N-substituted polyaspartamide main chain by amine protonation and alkyl spacer length in side chains for enhanced messenger RNA transfection efficiency Science and technology of advanced materials. 2019.02; 20 (1): 105-115. ( DOI )

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Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics. 2019.01; 64 (1): 11-16. ( PubMed , DOI )

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Sasagawa Yohei, Hayashi Tetsutaro, Nikaido Itoshi: Strategies for Converting RNA to Amplifiable cDNA for Single-Cell RNA Sequencing Methods SINGLE MOLECULE AND SINGLE CELL SEQUENCING. 2019; 1129 1-17. ( PubMed , DOI )

Hosoe Y, Numoto N, Inaba S, Ogawa S, Morii H, Abe R, Ito N, Oda M: Structural and functional properties of Grb2 SH2 dimer in CD28 binding. Biophysics and physicobiology. 2019; 16 80-88. ( PubMed , DOI )

Ikura T, Yonezawa Y, Ito N: Mutational effects of Cys113 on structural dynamics of Pin1. Biophysics and physicobiology. 2019; 16 452-465. ( PubMed , DOI )

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H: A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4. Human molecular genetics. 2018.12; 27 (23): 4024-4035. ( PubMed , DOI )

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T: A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia. Clinical genetics. 2018.12; 94 (6): 548-553. ( PubMed , DOI )

Tsuchida N, Hamada K, Shiina M, Kato M, Kobayashi Y, Tohyama J, Kimura K, Hoshino K, Ganesan V, Teik KW, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, Ogata K, Miyatake S, Matsumoto N: GRIN2D variants in three cases of developmental and epileptic encephalopathy. Clinical genetics. 2018.12; 94 (6): 538-547. ( PubMed , DOI )

Hamanaka K, Miyatake S, Zerem A, Lev D, Blumkin L, Yokochi K, Fujita A, Imagawa E, Iwama K, Nakashima M, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Saitsu H, van der Knaap MS, Lerman-Sagie T, Matsumoto N: Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. Journal of human genetics. 2018.12; 63 (12): 1223-1229. ( PubMed , DOI )

Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N: Biallelic COLGALT1 variants are associated with cerebral small vessel disease. Annals of neurology. 2018.12; 84 (6): 843-853. ( PubMed , DOI )

加藤 忠史, 澤田 知世, チェイター・トーマス , 笹川 洋平, 芳村 美佳, 藤森 典子, 田中 かおり, 合田 裕紀子, 二階堂 愛: iPS細胞を用いた精神・神経疾患研究の現状:創薬への期待　統合失調感情障害双極型に関して不一致な一卵性双生児におけるiPS細胞由来神経細胞および脳オーガノイドの表現型差異(Current status of research on neuropsychiatric disorders using iPS cells: potentiol for drug development　Phenotypic discordance of iPS cells-derived neurons/cerebral organoids between monozygotic twins discordant for schizoaffective bipolar disorder) 日本臨床精神神経薬理学会・日本神経精神薬理学会合同年会プログラム・抄録集. 2018.11; 28回・48回 124. ( 医中誌 )

Chikashi Terao, Hajime Yoshifuji, Takayoshi Matsumura, Taeko K Naruse, Tomonori Ishii, Yoshikazu Nakaoka, Yohei Kirino, Keitaro Matsuo, Tomoki Origuchi, Masakazu Shimizu, Yasuhiro Maejima, Eisuke Amiya, Natsuko Tamura, Takahisa Kawaguchi, Meiko Takahashi, Kazuya Setoh, Koichiro Ohmura, Ryu Watanabe, Tetsuya Horita, Tatsuya Atsumi, Mitsuru Matsukura, Tetsuro Miyata, Yuta Kochi, Toshio Suda, Kazuo Tanemoto, Akira Meguro, Yukinori Okada, Akiyoshi Ogimoto, Motohisa Yamamoto, Hiroki Takahashi, Shingo Nakayamada, Kazuyoshi Saito, Masataka Kuwana, Nobuhisa Mizuki, Yasuharu Tabara, Atsuhisa Ueda, Issei Komuro, Akinori Kimura, Mitsuaki Isobe, Tsuneyo Mimori, Fumihiko Matsuda: Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis Proc. Natl. Acad. Sci. U.S.A.. 2018.11; 115 (51): 13045-13050. ( PubMed , DOI )

Sato K, Otomo A, Ueda MT, Hiratsuka Y, Suzuki-Utsunomiya K, Sugiyama J, Murakoshi S, Mitsui S, Ono S, Nakagawa S, Shang HF, Hadano S: Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. The Journal of biological chemistry. 2018.11; 293 (44): 17135-17153. ( PubMed , DOI )

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N: Novel SUZ12 mutations in Weaver-like syndrome. Clinical genetics. 2018.11; 94 (5): 461-466. ( PubMed , DOI )

ALPHLARD: A Bayesian method for analyzing HLA genes from whole genome sequence data 2018.11; 19 (1): 790. ( PubMed , DOI )

Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB: Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiological genomics. 2018.11; 50 (11): 929-939. ( PubMed , DOI )

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N: A novel SLC9A1 mutation causes cerebellar ataxia. Journal of human genetics. 2018.10; 63 (10): 1049-1054. ( PubMed , DOI )

Tsuchida Y, Sumitomo S, Ota M, Tsuchiya H, Nagafuchi Y, Shoda H, Fujio K, Ishigaki K, Yamaguchi K, Suzuki A, Kochi Y, Yamamoto K: Reduction of CD83 Expression on B Cells and the Genetic Basis for Rheumatoid Arthritis: Comment on the Article by Thalayasingam et al. Arthritis & rheumatology (Hoboken, N.J.). 2018.10; 70 (10): 1695-1696. ( PubMed , DOI )

Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y: Zmynd17 controls muscle mitochondrial quality and whole-body metabolism. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 2018.09; 32 (9): 5012-5025. ( PubMed , DOI )

Akitsugu Matsui, Satoshi Uchida, Akimasa Hayashi, Kazunori Kataoka, Keiji Itaka: Prolonged engraftment of transplanted hepatocytes in the liver by transient pro-survival factor supplementation using ex vivo mRNA transfection. J Control Release. 2018.09; 285 1-11. ( PubMed , DOI )

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Rocio Otero, Michiyasu Ishizawa, Nobutaka Numoto, Teikichi Ikura, Nobutoshi Ito, Hiroaki Tokiwa, Antonio Mouriño, Makoto Makishima, Sachiko Yamada: Synthesis, Tissue Selective Biological Activities, and X-ray Crystal Structural Analysis of Its Vitamin D Receptor Complex. J. Med. Chem.. 2018.08; 61 (15): 6658-6673. ( PubMed , DOI )

Teikichi Ikura, Naoya Tochio, Ryosuke Kawasaki, Mizuki Matsuzaki, Akihiro Narita, Mahito Kikumoto, Naoko Utsunomiya-Tate, Shin-Ichi Tate, Nobutoshi Ito: The trans isomer of Tau peptide is prone to aggregate, and the WW domain of Pin1 drastically decreases its aggregation. FEBS Lett.. 2018.08; 592 (18): 3082-3091. ( PubMed , DOI )

Nobutaka Numoto, Narutoshi Kamiya, Gert-Jan Bekker, Yuri Yamagami, Satomi Inaba, Kentaro Ishii, Susumu Uchiyama, Fusako Kawai, Nobutoshi Ito, Masayuki Oda: Structural Dynamics of the PET-Degrading Cutinase-like Enzyme from Saccharomonospora viridis AHK190 in Substrate-Bound States Elucidates the Ca2+-Driven Catalytic Cycle. Biochemistry. 2018.08; 57 (36): 5289-5300. ( PubMed , DOI )

Yuya Hanazono, Kazuki Takeda, Kunio Miki: Co-translational folding of α-helical proteins: structural studies of intermediate-length variants of the λ repressor. FEBS Open Bio. 2018.08; 8 (8): 1312-1321. ( PubMed , DOI )

Miyatake S, Kato M, Sawaishi Y, Saito T, Nakashima M, Mizuguchi T, Mitsuhashi S, Takata A, Miyake N, Saitsu H, Matsumoto N: Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria. Annals of neurology. 2018.07; 84 (1): 159-161. ( PubMed , DOI )

Sakurai K, Ishigaki K, Shoda H, Nagafuchi Y, Tsuchida Y, Sumitomo S, Kanda H, Suzuki A, Kochi Y, Yamamoto K, Fujio K: HLA-DRB1 Shared Epitope Alleles and Disease Activity Are Correlated with Reduced T Cell Receptor Repertoire Diversity in CD4+ T Cells in Rheumatoid Arthritis. The Journal of rheumatology. 2018.07; 45 (7): 905-914. ( PubMed , DOI )

Kayoko Yanagihara, Satoshi Uchida, Shinsuke Ohba, Kazunori Kataoka, Keiji Itaka: Treatment of Bone Defects by Transplantation of Genetically Modified Mesenchymal Stem Cell Spheroids. Mol Ther Methods Clin Dev. 2018.06; 9 358-366. ( PubMed , DOI )

Fukuda H, Imagawa E, Hamanaka K, Fujita A, Mitsuhashi S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Kramer U, Matsumoto N, Fattal-Valevski A: A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia. Journal of human genetics. 2018.05; 63 (5): 673-676. ( PubMed , DOI )

Yamane M, Ohtsuka S, Matsuura K, Nakamura A, Niwa H: Overlapping functions of Krüppel-like factor family members: targeting multiple transcription factors to maintain the naïve pluripotency of mouse embryonic stem cells. Development (Cambridge, England). 2018.05; 145 (10): ( PubMed , DOI )

Naoki Miyamoto, Miho Yoshimura, Yuji Okubo, Kayo Suzuki-Nagata, Takeshi Tsumuraya, Nobutoshi Ito, Ikuo Fujii: Structural basis of the broad substrate tolerance of the antibody 7B9-catalyzed hydrolysis of p-nitrobenzyl esters. Bioorg. Med. Chem.. 2018.05; 26 (8): 1412-1417. ( PubMed , DOI )

Sumitomo S, Nagafuchi Y, Tsuchida Y, Tsuchiya H, Ota M, Ishigaki K, Nakachi S, Kato R, Sakurai K, Hanata N, Tateishi S, Kanda H, Suzuki A, Kochi Y, Fujio K, Yamamoto K: A gene module associated with dysregulated TCR signaling pathways in CD4⁺ T cell subsets in rheumatoid arthritis. Journal of autoimmunity. 2018.05; 89 21-29. ( PubMed , DOI )

Konno Y, Nagaoka S, Kimura I, Yamamoto K, Kagawa Y, Kumata R, Aso H, Ueda MT, Nakagawa S, Kobayashi T, Koyanagi Y, Sato K: New World feline APOBEC3 potently controls inter-genus lentiviral transmission. Retrovirology. 2018.04; 15 (1): 31. ( PubMed , DOI )

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N: Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. Human molecular genetics. 2018.04; 27 (8): 1421-1433. ( PubMed , DOI )

Kochi Y, Kamatani Y, Kondo Y, Suzuki A, Kawakami E, Hiwa R, Momozawa Y, Fujimoto M, Jinnin M, Tanaka Y, Kanda T, Cooper RG, Chinoy H, Rothwell S, Lamb JA, Vencovský J, Mann H, Ohmura K, Myouzen K, Ishigaki K, Nakashima R, Hosono Y, Tsuboi H, Kawasumi H, Iwasaki Y, Kajiyama H, Horita T, Ogawa-Momohara M, Takamura A, Tsunoda S, Shimizu J, Fujio K, Amano H, Mimori A, Kawakami A, Umehara H, Takeuchi T, Sano H, Muro Y, Atsumi T, Mimura T, Kawaguchi Y, Mimori T, Takahashi A, Kubo M, Kohsaka H, Sumida T, Yamamoto K: Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis. Annals of the rheumatic diseases. 2018.04; 77 (4): 602-611. ( PubMed , DOI )

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Sasagawa Yohei, Danno Hiroki, Takada Hitomi, Ebisawa Masashi, Tanaka Kaori, Hayashi Tetsutaro, Kurisaki Akira, Nikaido Itoshi: Quartz-Seq2: a high-throughput single-cell RNA-sequencing method that effectively uses limited sequence reads GENOME BIOLOGY. 2018.03; 19 (1): 29. ( PubMed , DOI )

Iwama K, Takaori T, Fukushima A, Tohyama J, Ishiyama A, Ohba C, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Saitsu H, Mizuguchi T, Matsumoto N: Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy. Journal of human genetics. 2018.03; 63 (3): 263-270. ( PubMed , DOI )

Hayashi Tetsutaro, Ozaki Haruka, Sasagawa Yohei, Umeda Mana, Danno Hiroki, Nikaido Itoshi: Single-cell full-length total RNA sequencing uncovers dynamics of recursive splicing and enhancer RNAs NATURE COMMUNICATIONS. 2018.02; 9 (1): 619. ( PubMed , DOI )

Iwama K, Iwata A, Shiina M, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Mizuguchi T, Matsumoto N: A novel mutation in SLC1A3 causes episodic ataxia. Journal of human genetics. 2018.02; 63 (2): 207-211. ( PubMed , DOI )

Kurosaki Y, Ueda MT, Nakano Y, Yasuda J, Koyanagi Y, Sato K, Nakagawa S: Different effects of two mutations on the infectivity of Ebola virus glycoprotein in nine mammalian species. The Journal of general virology. 2018.02; 99 (2): 181-186. ( PubMed , DOI )

Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I: GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. Neuromuscular disorders : NMD. 2018.02; 28 (2): 154-157. ( PubMed , DOI )

Chai MuhChyi, Sanosaka Tsukasa, Okuno Hironobu, Zhou Zhi, Koya Ikuko, Banno Satoe, Andoh-Noda Tomoko, Tabata Yoshikuni, Shimamura Rieko, Hayashi Tetsutaro, Ebisawa Masashi, Sasagawa Yohei, Nikaido Itoshi, Okano Hideyuki, Kohyama Jun: Chromatin remodeler CHD7 regulates the stem cell identity of human neural progenitors GENES & DEVELOPMENT. 2018.01; 32 (2): 165-180. ( PubMed , DOI )

Ishigaki K, Kochi Y, Yamamoto K: Genetics of human autoimmunity: From genetic information to functional insights. Clinical immunology (Orlando, Fla.). 2018.01; 186 9-13. ( PubMed , DOI )

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Sumitomo S, Nagafuchi Y, Tsuchida Y, Tsuchiya H, Ota M, Ishigaki K, Suzuki A, Kochi Y, Fujio K, Yamamoto K: Transcriptome analysis of peripheral blood from patients with rheumatoid arthritis: a systematic review. Inflammation and regeneration. 2018; 38 21. ( PubMed , DOI )

Nishino J, Ochi H, Kochi Y, Tsunoda T, Matsui S: Sample Size for Successful Genome-Wide Association Study of Major Depressive Disorder. Frontiers in genetics. 2018; 9 227. ( PubMed , DOI )

Watanabe N, Kryukov K, Nakagawa S, Takeuchi JS, Takeshita M, Kirimura Y, Mitsuhashi S, Ishihara T, Aoki H, Inokuchi S, Imanishi T, Inoue S: Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis. PloS one. 2018; 13 (8): e0202049. ( PubMed , DOI )

Nishino J, Kochi Y, Shigemizu D, Kato M, Ikari K, Ochi H, Noma H, Matsui K, Morizono T, Boroevich KA, Tsunoda T, Matsui S: Empirical Bayes Estimation of Semi-parametric Hierarchical Mixture Models for Unbiased Characterization of Polygenic Disease Architectures. Frontiers in genetics. 2018; 9 115. ( PubMed , DOI )

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E: Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation. Journal of neuromuscular diseases. 2018; 5 (2): 193-203. ( PubMed , DOI )

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Terao C, Okada Y, Ikari K, Kochi Y, Suzuki A, Ohmura K, Matsuo K, Taniguchi A, Kubo M, Raychaudhuri S, Yamamoto K, Yamanaka H, Kamatani Y, Mimori T, Matsuda F: Genetic landscape of interactive effects of HLA-DRB1 alleles on susceptibility to ACPA(+) rheumatoid arthritis and ACPA levels in Japanese population. Journal of medical genetics. 2017.12; 54 (12): 853-858. ( PubMed , DOI )

Naoto Yoshinaga, Takehiko Ishii, Mitsuru Naito, Taisuke Endo, Satoshi Uchida, Horacio Cabral, Kensuke Osada, Kazunori Kataoka: Polyplex micelles with phenylboronate/gluconamide cross-linking in the core exerting promoted gene transfection through spatiotemporal responsivity to intracellular pH and ATP concentration Journal of the American Chemical Society. 2017.11; 139 (51): 18567-18575. ( DOI )

Mitsuhashi S, Nakagawa S, Takahashi Ueda M, Imanishi T, Frith MC, Mitsuhashi H: Nanopore-based single molecule sequencing of the D4Z4 array responsible for facioscapulohumeral muscular dystrophy. Scientific reports. 2017.11; 7 (1): 14789. ( PubMed , DOI )

Haiyang Hu, Masahiro Uesaka, Song Guo, Kotaro Shimai, Tsai-Ming Lu, Fang Li, Satoko Fujimoto, Masato Ishikawa, Shiping Liu, Yohei Sasagawa, Guojie Zhang, Shigeru Kuratani, Jr-Kai Yu, Takehiro G. Kusakabe, Philipp Khaitovich, Naoki Irie: Constrained vertebrate evolution by pleiotropic genes NATURE ECOLOGY & EVOLUTION. 2017.11; 1 (11): 1722-1730. ( DOI )

Ishiyama A, Sakai C, Matsushima Y, Noguchi S, Mitsuhashi S, Endo Y, Hayashi YK, Saito Y, Nakagawa E, Komaki H, Sugai K, Sasaki M, Sato N, Nonaka I, Goto YI, Nishino I: IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurology. Genetics. 2017.10; 3 (5): e184. ( PubMed , DOI )

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2017.10; 62 (10): 931-933. ( PubMed , DOI )

Y Anraku, H Kuwahara, Y Fukusato, A Mizoguchi, T Ishii, K Nitta, Y Matsumoto, K Toh, K Miyata, S Uchida, K Nishina, K Osada, K Itaka, N Nishiyama, H Mizusawa, T Yamasoba, T Yokota, K Kataoka: Glycaemic control boosts glucosylated nanocarrier crossing the BBB into the brain. Nat Commun. 2017.10; 8 (1): 1001. ( PubMed , DOI )

Oka A, Asano Y, Hasegawa M, Fujimoto M, Ishikawa O, Kuwana M, Kawaguchi Y, Yamamoto T, Takahashi H, Goto D, Endo H, Jinnin M, Mano S, Hosomichi K, Mabuchi T, Ueda MT, Nakagawa S, Beck S, Bahram S, Takehara K, Sato S, Ihn H: RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase I Antibody-Positive Systemic Sclerosis. The Journal of investigative dermatology. 2017.09; 137 (9): 1878-1886. ( PubMed , DOI )

Satoshi Uchida, Naoto Yoshinaga, Kayoko Yanagihara, Eiji Yuba, Kazunori Kataoka, Keiji Itaka: Designing immunostimulatory double stranded messenger RNA with maintained translational activity through hybridization with poly A sequences for effective vaccination. Biomaterials. 2017.09; ( PubMed , DOI )

Matsumoto Hirotaka, Kiryu Hisanori, Furusawa Chikara, Ko Minoru S. H., Ko Shigeru B. H., Gouda Norio, Hayashi Tetsutaro, Nikaido Itoshi: SCODE: an efficient regulatory network inference algorithm from single-cell RNA-Seq during differentiation BIOINFORMATICS. 2017.08; 33 (15): 2314-2321. ( PubMed , DOI )

Dian-Jang Lee, Eva Kessel, Taavi Lehto, Xueying Liu, Naoto Yoshinaga, Kärt Padari, Ying-Chen Chen, Susanne Kempter, Satoshi Uchida, Joachim O. Rädler, Margus Pooga, Ming-Thau Sheu, Kazunori Kataoka, Ernst Wagner: Systemic Delivery of Folate-PEG siRNA Lipopolyplexes with Enhanced Intracellular Stability for In Vivo Gene Silencing in Leukemia Bioconjugate Chemistry. 2017.08; 28 (9): 2393-2409. ( DOI )

Ikura Teikichi, Ito Nobutoshi: タウタンパク質に対するPin1由来のプロテアーゼの活性の定量的評価(Quantitative evaluation of activity of a protease derived from Pin1 for tau protein) 生物物理. 2017.08; 57 (Suppl.1-2): S315. ( 医中誌 )

Numoto Nobutaka, Akatsu Chizuru, Shinagawa Kenro, Tsubata Takeshi, Ito Nobutoshi: B細胞抑制性因子CD72の分子表面電荷分布によるリガンド結合制御機構(Charge distribution regulates the ligand-binding affinity of B cell inhibitory receptor CD72) 生物物理. 2017.08; 57 (Suppl.1-2): S276. ( 医中誌 )

Horibata Y, Ando H, Satou M, Shimizu H, Mitsuhashi S, Shimizu Y, Itoh M, Sugimoto H: Identification of the N-terminal transmembrane domain of StarD7 and its importance for mitochondrial outer membrane localization and phosphatidylcholine transfer. Scientific reports. 2017.08; 7 (1): 8793. ( PubMed , DOI )

Saha M, Mitsuhashi S, Jones MD, Manko K, Reddy HM, Bruels CC, Cho KA, Pacak CA, Draper I, Kang PB: Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions. Human molecular genetics. 2017.08; 26 (15): 2984-3000. ( PubMed , DOI )

Okubo M, Goto K, Komaki H, Nakamura H, Mori-Yoshimura M, Hayashi YK, Mitsuhashi S, Noguchi S, Kimura E, Nishino I: Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. Orphanet journal of rare diseases. 2017.08; 12 (1): 149. ( PubMed , DOI )

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: Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis NATURE GENETICS. 2017.07; 49 (7): 1120-+. ( PubMed , DOI )

Mitsuhashi S, Kryukov K, Nakagawa S, Takeuchi JS, Shiraishi Y, Asano K, Imanishi T: A portable system for rapid bacterial composition analysis using a nanopore-based sequencer and laptop computer. Scientific reports. 2017.07; 7 (1): 5657. ( PubMed , DOI )

Nitta T, Kochi Y, Muro R, Tomofuji Y, Okamura T, Murata S, Suzuki H, Sumida T, Yamamoto K, Takayanagi H: Human thymoproteasome variations influence CD8 T cell selection. Science immunology. 2017.06; 2 (12): ( PubMed , DOI )

Hiraku Ohno, Kazuki Takeda, Satomi Niwa, Tomotaka Tsujinaka, Yuya Hanazono, Yu Hirano, Kunio Miki: Crystallographic characterization of the high-potential iron-sulfur protein in the oxidized state at 0.8 Å resolution. PLoS One. 2017.05; 12 (5): e0178183. ( PubMed , DOI )

Molineros JE, Yang W, Zhou XJ, Sun C, Okada Y, Zhang H, Heng Chua K, Lau YL, Kochi Y, Suzuki A, Yamamoto K, Ma J, Bang SY, Lee HS, Kim K, Bae SC, Zhang H, Shen N, Looger LL, Nath SK: Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci. Human molecular genetics. 2017.03; 26 (6): 1205-1216. ( PubMed , DOI )

Federico Perche, Satoshi Uchida, Hiroki Akiba, Chin-Yu Lin, Masaru Ikegami, Anjaneyulu Dirisala, Toshihiro Nakashima, Keiji Itaka, Kohei Tsumoto, Kazunori Kataoka: Improved Brain Expression of Anti-Amyloid β scFv by Complexation of mRNA Including a Secretion Sequence with PEG-based Block Catiomer. Curr Alzheimer Res. 2017.03; 14 (3): 295-302. ( PubMed , DOI )

Ueda MT, Kurosaki Y, Izumi T, Nakano Y, Oloniniyi OK, Yasuda J, Koyanagi Y, Sato K, Nakagawa S: Functional mutations in spike glycoprotein of Zaire ebolavirus associated with an increase in infection efficiency. Genes to cells : devoted to molecular & cellular mechanisms. 2017.02; 22 (2): 148-159. ( PubMed , DOI )

Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB: The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. Journal of human genetics. 2017.02; 62 (2): 243-252. ( PubMed , DOI )

Nishikawa A, Mitsuhashi S, Miyata N, Nishino I: Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. Journal of medical genetics. 2017.02; 54 (2): 104-110. ( PubMed , DOI )

Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I: Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies. Rheumatology (Oxford, England). 2017.02; 56 (2): 287-293. ( PubMed , DOI )

Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I: Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele. Journal of human genetics. 2017.02; 62 (2): 159-166. ( PubMed , DOI )

Sasagawa Yohei, Nikaido Itoshi, Hayashi Tetsutaro, Danno Hiroki, Uno Kenichiro D., Imai Takeshi, Ueda Hiroki R.: Quartz-Seq: a highly reproducible and sensitive single-cell RNA sequencing method, reveals non-genetic gene-expression heterogeneity (vol 14, R31, 2013) GENOME BIOLOGY. 2017.01; 18 (1): 9. ( PubMed , DOI )

Satomi Inaba, Nobutaka Numoto, Shuhei Ogawa, Hisayuki Morii, Teikichi Ikura, Ryo Abe, Nobutoshi Ito, Masayuki Oda: Crystal Structures and Thermodynamic Analysis Reveal Distinct Mechanisms of CD28 Phosphopeptide Binding to the Src Homology 2 (SH2) Domains of Three Adaptor Proteins. J. Biol. Chem.. 2017.01; 292 (3): 1052-1060. ( PubMed , DOI )

Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N: Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. American journal of human genetics. 2017.01; 100 (1): 169-178. ( PubMed , DOI )

Kulkarni Manjiri R., Islam Monirul, Numoto Nobutaka, Elahi Montasir, Ito Nobutoshi, Kuroda Yutaka: Crystallographic studies of sero-specific Dengue ED3 immune response ACTA CRYSTALLOGRAPHICA A-FOUNDATION AND ADVANCES. 2017; 73 A404. ( DOI )

Kulkarni Manjiri Ravindra, Islam Monirul, Numoto Nobutaka, Ito Nobutoshi, Kuroda Yutaka: Crystal structures of dengue virus protein revealed ED3 sero-specificity ACTA CRYSTALLOGRAPHICA A-FOUNDATION AND ADVANCES. 2017; 73 C394. ( DOI )

Tsuchida Y, Sumitomo S, Ishigaki K, Suzuki A, Kochi Y, Tsuchiya H, Ota M, Komai T, Inoue M, Morita K, Okamura T, Yamamoto K, Fujio K: TGF-β3 Inhibits Antibody Production by Human B Cells. PloS one. 2017; 12 (1): e0169646. ( PubMed , DOI )

Chizuru Akatsu, Kenro Shinagawa, Nobutaka Numoto, Zhihong Liu, Ayse Konuskan Ucar, Mohammad Aslam, Shirly Phoon, Takahiro Adachi, Koji Furukawa, Nobutoshi Ito, Takeshi Tsubata: CD72 negatively regulates B lymphocyte responses to the lupus-related endogenous toll-like receptor 7 ligand Sm/RNP. J. Exp. Med.. 2016.11; 213 (12): 2691-2706. ( PubMed , DOI )

Qixian Chen, Kensuke Osada, Zhishen Ge, Satoshi Uchida, Theofilus A. Tockary, Anjaneyulu Dirisala, Akitsugu Matsui, Kazuko Toh, Kaori M. Takeda, Xueying Liu, Takahiro Nomoto, Tekihiko Ishii, Makoto Oba, Yu Matsumoto, Kazunori Kataoka: Polyplex micelle installing intracellular self-processing functionalities without free catiomers for safe and efficient systemic gene therapy through tumor vasculature targeting Biomaterials. 2016.10; 113 253-265. ( DOI )

Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, Akihiko I, Sasaki M, Goto Y, Noguchi S, Nonaka I, Mitsuhashi S, Nishino I: Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome. Neurology. Genetics. 2016.10; 2 (5): e95. ( PubMed , DOI )

Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB: Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle & nerve. 2016.10; 54 (4): 690-5. ( PubMed , DOI )

Yuya Hanazono, Kazuki Takeda, Kunio Miki: Structural studies of the N-terminal fragments of the WW domain: Insights into co-translational folding of a beta-sheet protein. Sci Rep. 2016.10; 6 34654. ( PubMed , DOI )

Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N: Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy. American journal of human genetics. 2016.10; 99 (4): 950-961. ( PubMed , DOI )

Satoshi Uchida, Kentaro Hayakawa, Toru Ogata, Sakae Tanaka, Kazunori Kataoka, Keiji Itaka: Treatment of spinal cord injury by an advanced cell transplantation technology using brain-derived neurotrophic factor-transfected mesenchymal stem cell spheroids Biomaterials. 2016.09; 109 1-11. ( DOI )

Tomomi Imamura, Kyota Fujita, Kazuhiko Tagawa, Teikichi Ikura, Xigui Chen, Hidenori Homma, Takuya Tamura, Ying Mao, Juliana Bosso Taniguchi, Kazumi Motoki, Makoto Nakabayashi, Nobutoshi Ito, Kazunori Yamada, Kentaro Tomii, Hideyuki Okano, Julia Kaye, Steven Finkbeiner, Hitoshi Okazawa: Identification of hepta-histidine as a candidate drug for Huntington's disease by in silico-in vitro- in vivo-integrated screens of chemical libraries. Sci Rep. 2016.09; 6 33861. ( PubMed , DOI )

Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I: Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation. Neuromuscular disorders : NMD. 2016.09; 26 (9): 604-9. ( PubMed , DOI )

Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I: Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308]. Neuromuscular disorders : NMD. 2016.07; 26 (7): 472. ( PubMed , DOI )

Chin-Yu Lin, Federico Perche, Masaru Ikegami, Satoshi Uchida, Kazunori Kataoka, Keiji Itaka: Messenger RNA-based therapeutics for brain diseases: An animal study for augmenting clearance of beta-amyloid by intracerebral administration of neprilysin mRNA loaded in polyplex nanomicelles Journal of Controlled Release. 2016.06; 235 268-275. ( DOI )

Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. Journal of human genetics. 2016.06; 61 (6): 483-9. ( PubMed , DOI )

Yuya Hanazono, Kazuki Takeda, Kunio Miki: Characterization of the Nqo5 subunit of bacterial complex I in the isolated state. FEBS Open Bio. 2016.06; 6 (7): 687-695. ( PubMed , DOI )

van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM: Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. American journal of human genetics. 2016.05; 98 (5): 1020-1029. ( PubMed , DOI )

Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I: Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations. Neuromuscular disorders : NMD. 2016.04; 26 (4-5): 300-8. ( PubMed , DOI )

Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I: Muscle from a 20-week-old myotubular myopathy fetus is not myotubular. Neuromuscular disorders : NMD. 2016.03; 26 (3): 234-5. ( PubMed , DOI )

Manjiri R Kulkarni, Nobutaka Numoto, Nobutoshi Ito, Yutaka Kuroda: Modeling and experimental assessment of a buried Leu-Ile mutation in dengue envelope domain III. Biochem. Biophys. Res. Commun.. 2016.02; 471 (1): 163-168. ( PubMed , DOI )

Hirokuni Uchida, Keiji Itaka, Satoshi Uchida, Takehiko Ishii, Tomoya Suma, Kanjiro Miyata, Makoto Oba, Nobuhiro Nishiyama, Kazunori Kataoka: Synthetic polyamines to regulate mRNA translation through the preservative binding of eukaryotic initiation factor 4E to the cap structure Journal of the American Chemical Society . 2016.01; 138 (5): 1478-1481. ( DOI )

Hailati Aini, Keiji Itaka, Ayano Fujisawa, Hirokuni Uchida, Satoshi Uchida, Shigeto Fukushima, Kazunori Kataoka, Taku Saito, Ung-il Chung, Shinsuke Ohba: Messenger RNA delivery of a cartilage-anabolic transcription factor as a disease-modifying strategy for osteoarthritis treatment Scientific Reports . 2016.01; 6 18743. ( DOI )

Yuya Hanazono, Kazuki Takeda, Satomi Niwa, Masahito Hibi, Naoya Takahashi, Tamotsu Kanai, Haruyuki Atomi, Kunio Miki: Crystal structures of chitin binding domains of chitinase from Thermococcus kodakarensis KOD1. FEBS Lett. 2016.01; 590 (2): 298-304. ( PubMed , DOI )

Teikichi Ikura, Nobutoshi Ito: Crystal Structure of the Vitamin D Receptor Ligand-Binding Domain with Lithocholic Acids. Vitam. Horm.. 2016; 100 117-136. ( PubMed , DOI )

Isao Kii, Yuto Sumida, Toshiyasu Goto, Rie Sonamoto, Yukiko Okuno, Suguru Yoshida, Tomoe Kato-Sumida, Yuka Koike, Minako Abe, Yosuke Nonaka, Teikichi Ikura, Nobutoshi Ito, Hiroshi Shibuya, Takamitsu Hosoya, Masatoshi Hagiwara: Selective inhibition of the kinase DYRK1A by targeting its folding process. Nat Commun. 2016; 7 11391. ( PubMed , DOI )

Nakagawa S, Takahashi MU: gEVE: a genome-based endogenous viral element database provides comprehensive viral protein-coding sequences in mammalian genomes Database. 2016; baw087.

Yusuke Watarai, Michiyasu Ishizawa, Teikichi Ikura, Flavia C M Zacconi, Shigeyuki Uno, Nobutoshi Ito, Antonio Mouriño, Hiroaki Tokiwa, Makoto Makishima, Sachiko Yamada: Synthesis, Biological Activities, and X-ray Crystal Structural Analysis of 25-Hydroxy-25(or 26)-adamantyl-17-[20(22),23-diynyl]-21-norvitamin D Compounds. J. Med. Chem.. 2015.12; 58 (24): 9510-9521. ( PubMed , DOI )

Satoshi Uchida, Hiroaki Kinoh, Takehiko Ishii, Akitsugu Matsui, Theofilus Agrios Tockary, Kaori Machitani Takeda, Hirokuni Uchida, Kensuke Osada, Keiji Itaka, Kazunori Kataoka: Systemic delivery of messenger RNA for the treatment of pancreatic cancer using polyplex nanomicelles with a cholesterol moiety Biomaterials. 2015.12; 82 221-228. ( DOI )

Mariko Yamane, Setsuko Fujii, Satoshi Ohtsuka, Hitoshi Niwa: Zscan10 is dispensable for maintenance of pluripotency in mouse embryonic stem cells BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2015.12; 468 (4): 826-831. ( PubMed , DOI )

小杉 孝嗣, 笹川 洋平, 渡辺 直子, 二階堂 愛: 転写ネットワーク変化を網羅的に同定するシークエンス技術の開発 日本生化学会大会・日本分子生物学会年会合同大会講演要旨集. 2015.12; 88回・38回 [3P0819].

Yasuaki Anami, Yuta Sakamaki, Toshimasa Itoh, Yuka Inaba, Makoto Nakabayashi, Teikichi Ikura, Nobutoshi Ito, Keiko Yamamoto: Fine tuning of agonistic/antagonistic activity for vitamin D receptor by 22-alkyl chain length of ligands: 22S-Hexyl compound unexpectedly restored agonistic activity. Bioorg. Med. Chem.. 2015.11; 23 (22): 7274-7281. ( PubMed , DOI )

Ando H, Aoyama C, Horibata Y, Satou M, Mitsuhashi S, Itoh M, Hosaka K, Sugimoto H: Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1. The Biochemical journal. 2015.11; 471 (3): 369-79. ( PubMed , DOI )

Akitsugu Matsui, Satoshi Uchida, Takehiko Ishii, Keiji Itaka, Kazunori Kataoka: Messenger RNA-based therapeutics for the treatment of apoptosis-associated diseases Scientific Reports . 2015.10; 5 1-10. ( DOI )

Manjiri R Kulkarni, Monirul M Islam, Nobutaka Numoto, Montasir Elahi, Mamunur R Mahib, Nobutoshi Ito, Yutaka Kuroda: Structural and biophysical analysis of sero-specific immune responses using epitope grafted Dengue ED3 mutants. Biochim. Biophys. Acta. 2015.10; 1854 (10 Pt A): 1438-1443. ( PubMed , DOI )

Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M: Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation. Neurology. Genetics. 2015.10; 1 (3): e23. ( PubMed , DOI )

Zhao Y, Ogawa H, Yonekura S, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S: Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle. Biochimica et biophysica acta. 2015.10; 1852 (10 Pt A): 2042-7. ( PubMed , DOI )

Masaki Kinoshita, Daisuke Shimosato, Mariko Yamane, Hitoshi Niwa: Sox7 is dispensable for primitive endoderm differentiation from mouse ES cells BMC DEVELOPMENTAL BIOLOGY. 2015.10; 15 37. ( PubMed , DOI )

Tomoyuki Okuda, Yumiko Suzuki, Yuko Kobayashi, Takehiko Ishii, Satoshi Uchida, Keiji Itaka, Kazunori Kataoka, Hirokazu Okamoto: Development of biodegradable polycation-based inhalable dry gene powders by spray freeze drying Pharmaceutics. 2015.08; 7 (3): 233-254. ( DOI )

Masaki S, Kii I, Sumida Y, Kato-Sumida T, Ogawa Y, Ito N, Nakamura M, Sonamoto R, Kataoka N, Hosoya T, Hagiwara M: Design and synthesis of a potent inhibitor of class 1 DYRK kinases as a suppressor of adipogenesis. Bioorg Med Chem. 2015.08; 23 (15): 4434-4441. ( PubMed , DOI )

Morooka S, Hoshina M, Kii I, Okabe T, Kojima H, Inoue N, Okuno Y, Denawa M, Yoshida S, Fukuhara J, Ninomiya K, Ikura T, Furuya T, Nagano T, Noda K, Ishida S, Hosoya T, Ito N, Yoshimura N, Hagiwara M: Identification of a Dual Inhibitor of SRPK1 and CK2 That Attenuates Pathological Angiogenesis of Macular Degeneration in Mice. Mol Pharmacol. 2015.08; 88 (2): 316-325. ( PubMed , DOI )

G. Morota, F. Penagaricano, J. L. Petersen, D. C. Ciobanu, K. Tsuyuzaki, I. Nikaido: An application of MeSH enrichment analysis in livestock ANIMAL GENETICS. 2015.08; 46 (4): 381-387. ( PubMed , DOI )

Yanmin Li, Kensuke Osada, Qixian Chen, Theofilus A Tockary, Anjaneyulu Dirisala, Kaori M Takeda, Satoshi Uchida, Kazuya Nagata, Keiji Itaka, Kazunori Kataoka: Toroidal packaging of pDNA into block ionomer micelles exerting promoted in vivo gene expression Biomacromolecules. 2015.07; 16 (9): 2664-2671. ( DOI )

Uruha A, Noguchi S, Sato W, Nishimura H, Mitsuhashi S, Yamamura T, Nishino I: Plasma IP-10 level distinguishes inflammatory myopathy. Neurology. 2015.07; 85 (3): 293-4. ( PubMed , DOI )

Satoshi Uchida, Kazunori Kataoka, Keiji Itaka: Screening of mRNA chemical modification to maximize protein expression with reduced immunogenicity Pharmaceutics. 2015.07; 7 (3): 137-151. ( DOI )

Uruha A, Hayashi YK, Oya Y, Mori-Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira J, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I: Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure. Journal of neurology, neurosurgery, and psychiatry. 2015.05; 86 (5): 483-9. ( PubMed , DOI )

Setsuko Fujii, Satomi Nishikawa-Torikai, Yoko Futatsugi, Yayoi Toyooka, Mariko Yamane, Satoshi Ohtsuka, Hitoshi Niwa: Nr0b1 is a negative regulator of Zscan4c in mouse embryonic stem cells SCIENTIFIC REPORTS. 2015.03; 5 9146. ( PubMed , DOI )

Koki Tsuyuzaki, Gota Morota, Manabu Ishii, Takeru Nakazato, Satoru Miyazaki, Itoshi Nikaido: MeSH ORA framework: R/Bioconductor packages to support MeSH over-representation analysis BMC BIOINFORMATICS. 2015.02; 16 45. ( PubMed , DOI )

Qixian Chen, Kensuke Osada, Matthew Pennisi, Satoshi Uchida, Theofilus A. Tockary, Anjaneyulu Dirisala, Yanmin Li, Kaori M. Takeda, Satoshi Oniyanagi, Keiji Itaka, Kazunori Kataoka: A tadpole-shaped gene carrier with distinct phase segregation in a ternary polymeric micelle Soft matter. 2015.02; 11 (14): 2718-2722. ( DOI )

Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I: Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skeletal muscle. 2015; 5 29. ( PubMed , DOI )

Kentaro Hayakawa, Satoshi Uchida, Toru Ogata, Sakae Tanaka, Kazunori Kataoka, Keiji Itaka: Intrathecal injection of a therapeutic gene-containing polyplex to treat spinal cord injury Journal of Controlled Release. 2014.11; 197 1-9. ( DOI )

Draper I, Mahoney LJ, Mitsuhashi S, Pacak CA, Salomon RN, Kang PB: Silencing of drpr leads to muscle and brain degeneration in adult Drosophila. The American journal of pathology. 2014.10; 184 (10): 2653-61. ( PubMed , DOI )

Yamamoto M, Onogi H, Kii I, Yoshida S, Iida K, Sakai H, Abe M, Tsubota T, Ito N, Hosoya T, Hagiwara M: CDK9 inhibitor FIT-039 prevents replication of multiple DNA viruses. J Clin Invest. 2014.08; 124 (8): 3479-3488. ( PubMed , DOI )

Kudo Takeru, Ishizawa Michiyasu, Maekawa Kazuki, Nakabayashi Makoto, Watarai Yusuke, Uchida Hikaru, Tokiwa Hiroaki, Ikura Teikichi, Ito Nobutoshi, Makishima Makoto, Yamada Sachiko: Combination of triple bond and adamantane ring on the vitamin D side chain produced partial agonists for vitamin D receptor. J Med Chem. 2014.05; 57 (10): 4073-4087. ( PubMed , DOI )

Shunsuke Ito, Mariko Yamane, Satoshi Ohtsuka, Hitoshi Niwa: The C-terminal region of Xpc is dispensable for the transcriptional activity of Oct3/4 in mouse embryonic stem cells FEBS LETTERS. 2014.04; 588 (7): 1128-1135. ( PubMed , DOI )

Anjaneyulu Dirisala, Kensuke Osada, Qixian Chen, Theofilus A. Tockary, Kaori Machitani, Shigehito Osawa, Xueying Liu, Takehiko Ishii, Kanjiro Miyata, Makoto Oba, Satoshi Uchida, Keiji Itaka, Kazunori Kataoka: Optimized rod length of polyplex micelles for maximizing transfection efficiency and their performance in systemic gene therapy against stroma-rich pancreatic tumors Biomaterials. 2014.04; 35 (20): 5359-5368. ( DOI )

Kazuya Nagata, Keiji Itaka, Miyuki Baba, Satoshi Uchida, Takehiko Ishii, Kazunori Kataoka: Muscle-targeted hydrodynamic gene introduction of insulin-like growth factor-1 using polyplex nanomicelle to treat peripheral nerve injury Journal of Controlled Release. 2014.03; 183 27-34. ( DOI )

Furusawa Yoshihiko, Mitsuhashi Satomi, Mori-Yoshimura Madoka, Shimada Yohta, Yamamoto Toshiyuki, Shibuya Makoto, Shimizu Jun, Ohashi Toya, Saito Yuko, Nishino Ichizo, Oya Yasushi, Murata Miho: 酵素補充療法から4年後に発症した遅発型ポンぺ病　剖検例(Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case) Neurology and Clinical Neuroscience. 2014.01; 2 (1): 7-9. ( 医中誌 )

Zhishen Ge, Qixian Chen, Kensuke Osada, Xueying Liu, Theofilus A. Tockary, Satoshi Uchida, Anjaneyulu Dirisala, Takehiko Ishii, Takahiro Nomoto, Kazuko Toh, Yu Matsumoto, Makoto Oba, Mitsunobu R. Kano, Keiji Itaka, Kazunori Kataoka: Targeted gene delivery by polyplex micelles with crowded PEG palisade and cRGD moiety for systemic treatment of pancreatic tumors Biomaterials. 2014.01; 35 (10): 3416-3426. ( DOI )

Satoshi Uchida, Keiji Itaka, Takahiro Nomoto, Taisuke Endo, Yu Matsumoto, Takehiko Ishii, Kazunori Kataoka: An injectable spheroid system with genetic modification for cell transplantation therapy Biomaterials. 2013.12; 35 (8): 2499-2506. ( DOI )

Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB: Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscular disorders : NMD. 2013.12; 23 (12): 975-80. ( PubMed , DOI )

Kenjiro Adachi, Itoshi Nikaido, Hiroshi Ohta, Satoshi Ohtsuka, Hiroki Ura, Mitsutaka Kadota, Teruhiko Wakayama, Hiroki R. Ueda, Hitoshi Niwa: Context-Dependent Wiring of Sox2 Regulatory Networks for Self-Renewal of Embryonic and Trophoblast Stem Cells MOLECULAR CELL. 2013.11; 52 (3): 380-392. ( PubMed , DOI )

Mitsuhashi S, Nishino I: Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β. Current opinion in neurology. 2013.10; 26 (5): 536-43. ( PubMed , DOI )

Masaki Shigeta, Satoshi Ohtsuka, Satomi Nishikawa-Torikai, Mariko Yamane, Setsuko Fujii, Kazuhiro Murakami, Hitoshi Niwa: Maintenance of pluripotency in mouse ES cells without Trp53 Scientific Reports. 2013.10; 3 2944. ( PubMed , DOI )

Ikura Teikichi, Ito Nobutoshi: Peptidyl-prolyl isomerase activity of FK506 binding protein 12 prevents tau peptide from aggregating. Protein Eng Des Sel. 2013.09; 26 (9): 539-546. ( PubMed , DOI )

Nakabayashi Makoto, Tsukahara Yoshito, Iwasaki-Miyamoto Yukiko, Mihori-Shimazaki Mika, Yamada Sachiko, Inaba Satomi, Oda Masayuki, Shimizu Masato, Makishima Makoto, Tokiwa Hiroaki, Ikura Teikichi, Ito Nobutoshi: Crystal structures of hereditary vitamin D-resistant rickets-associated vitamin D receptor mutants R270L and W282R bound to 1,25-dihydroxyvitamin D3 and synthetic ligands. J Med Chem. 2013.09; 56 (17): 6745-6760. ( PubMed , DOI )

Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB: Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS letters. 2013.09; 587 (18): 2952-7. ( PubMed , DOI )

Higo K, Ikura T, Oda M, Morii H, Takahashi J, Abe R, Ito N: High resolution crystal structure of the Grb2 SH2 domain with a phosphopeptide derived from CD28 PLoS One. 2013.08; 8 (9): e74482. ( DOI )

Masuno Hiroyuki, Ikura Teikichi, Morizono Daisuke, Orita Isamu, Yamada Sachiko, Shimizu Masato, Ito Nobutoshi: Crystal structures of complexes of vitamin D receptor ligand-binding domain with lithocholic acid derivatives. J Lipid Res. 2013.08; 54 (8): 2206-2213. ( PubMed , DOI )

Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ: Intranuclear rods myopathy with autonomic dysfunction. Brain & development. 2013.08; 35 (7): 686-9. ( PubMed , DOI )

Theofilus A. Tockary, Kensuke Osada, Qixian Chen, Kaori Machitani, Anjaneyulu Dirisala, Satoshi Uchida, Takahiro Nomoto, Kazuko Toh, Yu Matsumoto, Keiji Itaka, Koji Nitta, Kuniaki Nagayama, Kazunori Kataoka: Tethered PEG Crowdedness Determining Shape and Blood Circulation Profile of Polyplex Micelle Gene Carriers Macromolecules. 2013.08; 46 (16): 6585-6592. ( DOI )

Hiroyasu Takemoto, Kanjiro Miyata, Shota Hattori, Takehiko Ishii, Tomoya Suma, Satoshi Uchida, Nobuhiro Nishiyama, Kazunori Kataoka: Acidic pH‐Responsive siRNA Conjugate for Reversible Carrier Stability and Accelerated Endosomal Escape with Reduced IFNα‐Associated Immune Response Angewandte Chemie International Edition. 2013.04; 125 (24): 6338-6341. ( DOI )

Nobuo Yoshimoto, Akiko Kida, Xu Jie, Masaya Kurokawa, Masumi Iijima, Tomoaki Niimi, Andres D. Maturana, Itoshi Nikaido, Hiroki R. Ueda, Kenji Tatematsu, Katsuyuki Tanizawa, Akihiko Kondo, Ikuo Fujii, Shun'ichi Kuroda: An automated system for high-throughput single cell-based breeding SCIENTIFIC REPORTS. 2013.02; 3 1191. ( PubMed , DOI )

Satoshi Uchida, Keiji Itaka, Hirokuni Uchida, Kentaro Hayakawa, Toru Ogata, Takehiko Ishii, Shigeto Fukushima, Kensuke Osada, Kazunori Kataoka: In vivo messenger RNA introduction into the central nervous system using polyplex nanomicelle PLOS ONE. 2013.02; 8 (2): e56220. ( DOI )

Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM: Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Human molecular genetics. 2013.02; 22 (3): 568-77. ( PubMed , DOI )

Yuya Hanazono, Kazuki Takeda, Toshihiko Oka, Tetsuya Abe, Taichi Tomonari, Nobuhiko Akiyama, Yoshiki Aikawa, Masafumi Yohda, Kunio Miki: Nonequivalence observed for the 16-meric structure of a small heat shock protein, SpHsp16.0, from Schizosaccharomyces pombe. Structure. 2013.02; 21 (2): 220-228. ( PubMed , DOI )

Higo Kunitake, Ikura Teikichi, Oda Masayuki, Morii Hisayuki, Takahashi Jun, Abe Ryo, Ito Nobutoshi: High resolution crystal structure of the Grb2 SH2 domain with a phosphopeptide derived from CD28. PLoS One. 2013; 8 (9): e74482. ( PubMed , DOI )

Tomoko Nakanishi, Rumiko Saito, Makoto Taniguchi, Haruka Oda, Atsumi Soma, Mayu Yasunaga, Mariko Yamane, Kenzo Sato: In Vivo Determination of Vitamin D Function Using Transgenic Mice Carrying a Human Osteocalcin Luciferase Reporter Gene BIOMED RESEARCH INTERNATIONAL. 2013; 2013 895706. ( PubMed , DOI )

Mitsuhashi S, Kang PB: Update on the genetics of limb girdle muscular dystrophy. Seminars in pediatric neurology. 2012.12; 19 (4): 211-8. ( PubMed , DOI )

Naohiro Hori, Mariko Yamane, Kaori Kouno, Kenzo Sato: Induction of DNA Demethylation Depending on Two Sets of Sox2 and Adjacent Oct3/4 Binding Sites (Sox-Oct Motifs) within the Mouse H19/Insulin-like Growth Factor 2 (Igf2) Imprinted Control Region JOURNAL OF BIOLOGICAL CHEMISTRY. 2012.12; 287 (52): 44006-44016. ( PubMed , DOI )

Yuko Okamura-Oho, Kazuro Shimokawa, Satoko Takemoto, Asami Hirakiyama, Sakiko Nakamura, Yuki Tsujimura, Masaomi Nishimura, Takeya Kasukawa, Koh-hei Masumoto, Itoshi Nikaido, Yasufumi Shigeyoshi, Hiroki R. Ueda, Gang Song, James Gee, Ryutaro Himeno, Hideo Yokota: Transcriptome Tomography for Brain Analysis in the Web-Accessible Anatomical Space PLOS ONE. 2012.09; 7 (9): e45373. ( PubMed , DOI )

Taisuke Endo, Keiji Itaka, Momoko Shioyama, Satoshi Uchida, Kazunori Kataoka: Gene transfection to spheroid culture system on micropatterned culture plate by polyplex nanomicelle: a novel platform of genetically-modified cell transplantation Drug delivery and translational research . 2012.09; 2 (5): 398-405. ( DOI )

Yuya Hanazono, Kazuki Takeda, Masafumi Yohda, Kunio Miki: Structural studies on the oligomeric transition of a small heat shock protein, StHsp14.0. J Mol Biol. 2012.09; 422 (1): 100-108. ( PubMed , DOI )

Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, DeChene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012.05; 13 (2): 115-24. ( PubMed , DOI )

Yoshimoto Nobuko, Sakamaki Yuta, Haeta Minoru, Kato Akira, Inaba Yuka, Itoh Toshimasa, Nakabayashi Makoto, Ito Nobutoshi, Yamamoto Keiko: Butyl pocket formation in the vitamin D receptor strongly affects the agonistic or antagonistic behavior of ligands. J Med Chem. 2012.05; 55 (9): 4373-4381. ( PubMed , DOI )

Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K: Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. American journal of medical genetics. Part A. 2012.04; 158A (4): 772-8. ( PubMed , DOI )

Qixian Chen, Kensuke Osada, Takehiko Ishii, Makoto Oba, Satoshi Uchida, Theofilus A. Tockary, Taisuke Endo, Zhishen Ge, Hiroaki Kinoh, Mitsunobu R. Kano, Keiji Itaka, Kazunori Kataoka: Homo-catiomer integration into PEGylated polyplex micelle from block-catiomer for systemic anti-angiogenic gene therapy for fibrotic pancreatic tumors Biomaterials. 2012.03; 33 (18): 4722-4730. ( DOI )

Nomura W, Masuda A, Ohba K, Urabe A, Ito N, Ryo A, Yamamoto N, Tamamura H: Effects of DNA binding of the zinc finger and linkers for domain fusion on the catalytic activity of sequence-specific chimeric recombinases determined by a facile fluorescent system. Biochemistry. 2012.02; 51 (7): 1510-1517. ( PubMed , DOI )

Satoshi Uchida, Keiji Itaka, Qixian Chen, Kensuke Osada, Takehiko Ishii, Masa-Aki Shibata, Mariko Harada-Shiba, Kazunori Kataoka: PEGylated polyplex with optimized PEG shielding enhances gene introduction in lungs by minimizing inflammatory responses Molecular Therapy . 2012.02; 20 (6): 1196-1203. ( DOI )

Tamashiro Tomonari, Tanabe Yoichi, Ikura Teikichi, Ito Nobutoshi, Oda Masayuki: Critical roles of Asp270 and Trp273 in the alpha-repeat of the carbohydrate-binding module of endo-1,3-beta-glucanase for laminarin-binding avidity. Glycoconj J. 2012.01; 29 (1): 77-85. ( PubMed , DOI )

Takahashi M, Saitou N: Identification and characterization of lineage-specific highly conserved noncoding sequences in mammalian genomes. Genome Biology and Evolution. 2012; 4 641-657.

Mitsuhashi S, Nishino I: Phospholipid synthetic defect and mitophagy in muscle disease. Autophagy. 2011.12; 7 (12): 1559-61. ( PubMed , DOI )

Fujii Shinya, Masuno Hiroyuki, Taoda Yoshiyuki, Kano Atsushi, Wongmayura Angsuma, Nakabayashi Makoto, Ito Nobutoshi, Shimizu Masato, Kawachi Emiko, Hirano Tomoya, Endo Yasuyuki, Tanatani Aya, Kagechika Hiroyuki: Boron cluster-based development of potent nonsecosteroidal vitamin D receptor ligands: direct observation of hydrophobic interaction between protein surface and carborane. J Am Chem Soc. 2011.12; 133 (51): 20933-20941. ( PubMed , DOI )

Tomoya Suma, Kanjiro Miyata, Takehiko Ishii, Satoshi Uchida, Hirokuni Uchida, Keiji Itaka, Nobuhiro Nishiyama, Kazunori Kataoka: Enhanced stability and gene silencing ability of siRNA-loaded polyion complexes formulated from polyaspartamide derivatives with a repetitive array of amino groups in the side chain Biomaterials. 2011.12; 33 (9): 2770-2779. ( DOI )

Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto Y, Cox GA, Nishino I: Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy. Human molecular genetics. 2011.10; 20 (19): 3841-51. ( PubMed , DOI )

Takeya Kasukawa, Koh-hei Masumoto, Itoshi Nikaido, Mamoru Nagano, Kenichiro D. Uno, Kaori Tsujino, Carina Hanashima, Yasufumi Shigeyoshi, Hiroki R. Ueda: Quantitative Expression Profile of Distinct Functional Regions in the Adult Mouse Brain PLOS ONE. 2011.08; 6 (8): e23228. ( PubMed , DOI )

Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I: Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations. Neuromuscular disorders : NMD. 2011.07; 21 (7): 489-93. ( PubMed , DOI )

Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I: A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. American journal of human genetics. 2011.06; 88 (6): 845-851. ( PubMed , DOI )

Nomura W, Ohashi N, Okuda Y, Narumi T, Ikura T, Ito N, Tamamura H: Fluorescence-quenching screening of protein kinase C ligands with an environmentally sensitive fluorophore. Bioconjug Chem. 2011.05; 22 (5): 923-930. ( PubMed , DOI )

Satoshi Uchida, Keiji Itaka, Qixian Chen, Kensuke Osada, Kanjiro Miyata, Takehiko Ishii, Mariko Harada-Shiba, Kazunori Kataoka: Combination of chondroitin sulfate and polyplex micelles from Poly (ethylene glycol)-poly {N’-[N-(2-aminoethyl)-2-aminoethyl] aspartamide} block copolymer for prolonged in vivo gene transfection with reduced toxicity Journal of Controlled Release. 2011.05; 155 (2): 296-302. ( DOI )

Kazuki Takeda, Takuro Hayashi, Tetsuya Abe, Yu Hirano, Yuya Hanazono, Masafumi Yohda, Kunio Miki: Dimer structure and conformational variability in the N-terminal region of an archaeal small heat shock protein, StHsp14.0. J Struct Biol. 2011.04; 174 (1): 92-99. ( PubMed , DOI )

Prakash T, Oshima K, Morita H, Fukuda S, Imaoka A, Kumar N., Sharma VK, Takahashi M, Saitou N, Taylor TD, Ohno H, Umesaki Y, Hattori M: Complete genome sequences of rat and mouse segmented filamentous bacteria, a potent inducer of Th17 cell differentiation Cell Host & Microbe. 2011;

Ogawa Y., Nonaka Y., Goto T., Ohnishi E., Hiramatsu T., Kii I., Yoshida M., Ikura T., Onogi H., Shibuya H., Hosoya T., Ito N., Hagiwara M.: Development of a novel selective inhibitor of the Downsyndrome-related kinase Dyrk1A. Nat. Commun.. 2010.10; ( PubMed , DOI )

Ishigaki K, Mitsuhashi S, Kuwatsuru R, Murakami T, Shishikura K, Suzuki H, Hirayama Y, Nonaka I, Osawa M: High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation. Acta neuropathologica. 2010.10; 120 (4): 537-43. ( PubMed , DOI )

Yoshimi Tokuzawa, Ken Yagi, Yzumi Yamashita, Yutaka Nakachi, Itoshi Nikaido, Hidemasa Bono, Yuichi Ninomiya, Yukiko Kanesaki-Yatsuka, Masumi Akita, Hiromi Motegi, Shigeharu Wakana, Tetsuo Noda, Fred Sablitzky, Shigeki Arai, Riki Kurokawa, Toru Fukuda, Takenobu Katagiri, Christian Schoenbach, Tatsuo Suda, Yosuke Mizuno, Yasushi Okazaki: Id4, a New Candidate Gene for Senile Osteoporosis, Acts as a Molecular Switch Promoting Osteoblast Differentiation PLOS GENETICS. 2010.07; 6 (7): e1001019. ( PubMed , DOI )

Inaba Yuka, Nakabayashi Makoto, Itoh Toshimasa, Yoshimoto Nobuko, Ikura Teikichi, Ito Nobutoshi, Shimizu Masato, Yamamoto Keiko: 22S-butyl-1alpha,24R-dihydroxyvitamin D3: recovery of vitamin D receptor agonistic activity. J Steroid Biochem Mol Biol. 2010.07; 121 (1-2): 146-150. ( PubMed , DOI )

Keiichiro Suzuki, Fumi Ohbayashi, Itoshi Nikaido, Akihiko Okuda, Haruyoshi Takaki, Yasushi Okazaki, Kohnosuke Mitani: Integration of exogenous DNA into mouse embryonic stem cell chromosomes shows preference into genes and frequent modification at junctions CHROMOSOME RESEARCH. 2010.02; 18 (2): 191-201. ( PubMed , DOI )

Mitsuhashi Satomi, Nonaka Ikuya, Wu Shiwen, Alberto Carlos, Moreno Ibarra, Shalaby Sherine, Hayashi Yukiko K., Noguchi Satoru, Nishino Ichizo: Multi-minicore病における遠位型ミオパシー(Distal Myopathy in Multi-minicore Disease) Internal Medicine. 2009.10; 48 (19): 1759-1762. ( 医中誌 )

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I: Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. The Journal of clinical investigation. 2009.09; 119 (9): 2623-33. ( PubMed , DOI )

Tomoyuki Yoshida, Satoshi Uchida, Masayoshi Mishina: Regulation of synaptic vesicle accumulation and axon terminal remodeling during synapse formation by distinct Ca2+ signaling Journal of Neurochemistry. 2009.09; 111 (1): 160-170. ( DOI )

Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I: Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. Neuromuscular disorders : NMD. 2009.07; 19 (7): 485-8. ( PubMed , DOI )

Inaba Y, Yoshimoto N, Sakamaki Y, Nakabayashi M, Ikura T, Tamamura H, Ito N, Shimizu M, Yamamoto K: A New Class of Vitamin D Analogues that Induce Structural Rearrangement of the Ligand-Binding Pocket of the Receptor. J Med Chem. 2009.02; ( PubMed , DOI )

Mitsuhashi S, Nonaka I, Wu S, Moreno CA, Shalaby S, Hayashi YK, Noguchi S, Nishino I: Distal myopathy in multi-minicore disease. Internal medicine (Tokyo, Japan). 2009; 48 (19): 1759-62. ( PubMed , DOI )

Nakabayashi Makoto, Yamada Sachiko, Yoshimoto Nobuko, Tanaka Takashi, Igarashi Miharu, Ikura Teikichi, Ito Nobutoshi, Makishima Makoto, Tokiwa Hiroaki, DeLuca Hector F, Shimizu Masato: Crystal structures of rat vitamin D receptor bound to adamantyl vitamin D analogs: structural basis for vitamin D receptor antagonism and partial agonism. J Med Chem. 2008.09; 51 (17): 5320-5329. ( PubMed , DOI )

Shimizu Masato, Miyamoto Yukiko, Takaku Hajime, Matsuo Mayumi, Nakabayashi Makoto, Masuno Hiroyuki, Udagawa Nobuyuki, DeLuca Hector F, Ikura Teikichi, Ito Nobutoshi: 2-Substituted-16-ene-22-thia-1alpha,25-dihydroxy-26,27-dimethyl-19-norvitamin D3 analogs: Synthesis, biological evaluation, and crystal structure. Bioorg Med Chem. 2008.07; 16 (14): 6949-6964. ( PubMed , DOI )

Yutaka Nakachi, Ken Yagi, Itoshi Nikaido, Hidemasa Bono, Mio Tonouchi, Christian Schonbach, Yasushi Okazaki: Identification of novel PPAR gamma target genes by integrated analysis of ChIP-on-chip and microarray expression data during adipocyte differentiation BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 2008.07; 372 (2): 362-366. ( DOI )

Urakubo Yoshiaki, Ikura Teikichi, Ito Nobutoshi: Crystal structural analysis of protein-protein interactions drastically destabilized by a single mutation. Protein Sci. 2008.06; 17 (6): 1055-1065. ( PubMed , DOI )

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Ikura Teikichi, Ito Nobutoshi: Requirements for peptidyl-prolyl isomerization activity: a comprehensive mutational analysis of the substrate-binding cavity of FK506-binding protein 12. Protein Sci. 2007.12; 16 (12): 2618-2625. ( PubMed , DOI )

Oda Masayuki, Ito Nobutoshi, Tsumuraya Takeshi, Suzuki Kayo, Sakakura Masayoshi, Fujii Ikuo: Thermodynamic and structural basis for transition-state stabilization in antibody-catalyzed hydrolysis. J Mol Biol. 2007.05; 369 (1): 198-209. ( PubMed , DOI )

Tsuchiya Yuko, Kinoshita Kengo, Ito Nobutoshi, Nakamura Haruki: PreBI: prediction of biological interfaces of proteins in crystals. Nucleic Acids Res. 2006.07; 34 (Web Server issue): W320-W324. ( PubMed , DOI )

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高地 雄太: 【皮膚筋炎とその周辺】炎症性筋疾患と遺伝的素因 皮膚科. 2023.01; 3 (1): 1-5. ( 医中誌 )

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高地 雄太: 【全身性エリテマトーデス-診断・治療の最新動向-】総論とSLEの発症メカニズム　SLEの遺伝学 日本臨床. 2022.05; 80 (5): 757-762. ( 医中誌 )

高地 雄太: 【最新関節リウマチ学(第2版)-寛解・治癒を目指した研究と最新治療-】病因と病態　関節リウマチの病因研究とその進歩　関節リウマチの遺伝素因 日本臨床. 2022.04; 80 (増刊4 最新関節リウマチ学): 41-45. ( 医中誌 )

高地 雄太: 【RA発症前の病態解析の進歩】遺伝要因を用いた関節リウマチの発症期の診断・病態予測 臨床リウマチ. 2022.03; 34 (1): 38-43. ( 医中誌 )

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Numoto Nobutaka, Kawano Yoshiaki, Okumura Hideo, Baba Seiki, Fukumori Yoshihiro, Miki Kunio, Ito Nobutoshi: Coarse snapshots of oxygen-dissociation intermediates of a giant hemoglobin elucidated by determining the oxygen saturation in individual subunits in the crystalline state IUCRJ. 2021.11; 8 (Pt 6): 954-962. ( PubMed , DOI )

二階堂 愛: 単一細胞RNAシーケンス解析 臨床免疫・アレルギー科. 2021.10; 76 (4): 426-431. ( 医中誌 )

Numoto N., Hirata K., Akatsu C., Tsubata T., Ito N.: Molecular mechanism of self-antigen recognition by the ligand binding domain of B cell inhibitory co-receptor CD72 ACTA CRYSTALLOGRAPHICA A-FOUNDATION AND ADVANCES. 2021.08; 77 C526.

高地 雄太: 【Common disease解析の最前線】自己免疫疾患のゲノム・オミックス解析の最前線 遺伝子医学. 2021.04; 11 (2): 23-27. ( 医中誌 )

二階堂 愛: 【1細胞解析-技術と応用】技術　1細胞トランスクリプトームデータの解析技術 医学のあゆみ. 2021.03; 276 (10): 961-966. ( 医中誌 )

高地 雄太: 免疫関連疾患のゲノミクス研究の現在　自己免疫疾患のゲノム解析　ゲノム精密医療に向けて 日本リウマチ学会総会・学術集会プログラム・抄録集. 2021.03; 65回 173. ( 医中誌 )

二階堂愛: 1細胞トランスクリプトームデータの解析技術 医学のあゆみ. 2021.03;

棚谷 綾, 吉岡 千咲, 増野 弘幸, 森 修一, 伊藤 暢聡, 影近 弘之, 平田 尚也, 諫田 泰成: リトコール酸をリードとしたビタミンD誘導体の構造展開 ビタミン. 2021.03; 95 (3): 100-101. ( 医中誌 )

高地 雄太: 専門医のためのアレルギー学講座　遺伝子から見た免疫・アレルギー　免疫細胞のトランスクリプトーム解析と疾患感受性遺伝子　eQTLとGWASの統合解析 アレルギー. 2020.12; 69 (10): 947-951. ( 医中誌 )

太田 峰人, 永渕 泰雄, 波多野 裕明, 石垣 和慶, 竹島 雄介, 柳岡 治先, 小林 聖未, 大久保 麻衣, 杉森 祐介, 前田 淳子, 中野 正博, 山田 紗依子, 吉田 良知, 岩崎 由希子, 住友 秀次, 庄田 宏文, 高地 雄太, 山本 一彦, 岡村 僚久, 藤尾 圭志: 機能ゲノム解析による全身性免疫疾患へのアプローチ 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 76. ( 医中誌 )

高地 雄太: 【ヒト免疫疾患研究の新たなアプローチ】ヒト免疫疾患のゲノム解析からのアプローチ　多因子遺伝疾患 炎症と免疫. 2020.10; 28 (6): 460-464. ( 医中誌 )

高地 雄太: 病態探索に挑む　Splicing QTL解析を介した免疫疾患の病態へのアプローチ 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 47. ( 医中誌 )

二階堂 愛: ヒト細胞アトラス構築のための1細胞トランスクリプトーム技術 日本臨床免疫学会総会プログラム・抄録集. 2020.10; 48回 82. ( 医中誌 )

尾堀 佐知子, 三橋 里美, 松本 直通: 【Long read sequencer】長鎖シークエンサーを用いたヒト疾患解析 遺伝子医学. 2020.07; 10 (3): 23-28. ( 医中誌 )

二階堂 愛: Quartz-Seq2　ヒト細胞アトラス時代の高精度1細胞RNAシーケンス法 再生医療. 2020.05; 19 (2): 138-141. ( 医中誌 )

吉原 綾菜, 吉岡 千咲, 川崎 波留, 増野 弘幸, 河内 恵美子, 諫田 泰成, 平田 尚也, 伊藤 暢聡, 影近 弘之, 棚谷 綾: 高いビタミンD活性を有するリトコール酸側鎖誘導体の創製 ビタミン. 2020.04; 94 (4): 287. ( 医中誌 )

笹川 洋平, 田中 かおり, 林 哲太郎, 二階堂 愛: 1細胞RNA解析で世界最高成績 －国際的な性能比較研究で証明－ 2020.04;

笹川 洋平, 田中 かおり, 林 哲太郎, 二階堂 愛: 1細胞RNA解析で世界最高成績 －国際的な性能比較研究で証明－ 2020.04;

高地 雄太: 【特発性炎症性筋疾患update】IIMのゲノム解析の現状 リウマチ科. 2020.04; 63 (4): 369-373. ( 医中誌 )

高地 雄太: 【ビッグデータ時代のゲノム医学】免疫・アレルギー疾患のゲノム医学　関節リウマチのゲノム医学 生体の科学. 2020.04; 71 (2): 142-146. ( 医中誌 )

橋本 至, 加藤 洋人, 林 周斗, 河村 大輔, 大島 貴, 利野 靖, 益田 宗孝, 石川 俊平: 凍結臨床試料を用いたシングルセルRNA-seq法の確立 日本衛生学雑誌. 2020.03; 75 (Suppl.): S187. ( 医中誌 )

古谷 弦太, 加藤 洋人, 林 周斗, 河村 大輔, 石川 俊平: ヒト胃癌環境における主要な抗体クローンとして同定された抗硫酸化グリコサミノグリカン抗体の解析 日本衛生学雑誌. 2020.03; 75 (Suppl.): S202. ( 医中誌 )

高地 雄太: 整形外科領域におけるゲノム医療:現状と臨床への展開　eQTLを介した関節リウマチのゲノム解析 日本整形外科学会雑誌. 2020.01; 94 (1): 6-10. ( 医中誌 )

Kochi Y: [TRANSCRIPTOME ANALYSIS OF IMMUNE CELLS AND DISEASE SUSCEPTIBLE GENES]. Arerugi = [Allergy]. 2020; 69 (10): 947-951. ( PubMed , DOI )

二階堂 愛: 【シングルセルゲノミクス　組織の機能、病態が1細胞レベルで見えてきた!】(第3章)技術開発　シングルセルゲノム情報解析の基盤技術 実験医学. 2019.12; 37 (20): 3498-3501. ( 医中誌 )

二階堂 愛: 【シングルセルゲノミクス　組織の機能、病態が1細胞レベルで見えてきた!】(第3章)技術開発　進歩を続ける1細胞トランスクリプトーム計測法 実験医学. 2019.12; 37 (20): 3491-3496. ( 医中誌 )

土田 優美, 太田 峰人, 石垣 和慶, 住友 秀次, 山口 健介, 永渕 泰雄, 土屋 遥香, 庄田 宏文, 鈴木 亜香里, 山本 一彦, 高地 雄太, 藤尾 圭志: 刺激下でのCD4陽性T細胞におけるexpression quantitative trait locusの検討 日本臨床免疫学会総会プログラム・抄録集. 2019.10; 47回 122. ( 医中誌 )

鈴木 亜香里, 高地 雄太, 石垣 和慶, 山本 一彦: 運動器疾患ゲノム研究の未来　統合オミックス解析による関節リウマチ関連遺伝子の同定 日本整形外科学会雑誌. 2019.09; 93 (8): S1609. ( 医中誌 )

棚谷 綾, 吉岡 千咲, 川崎 波留, 佐々木 晴江, 藤原 葉子, 増野 弘幸, 伊藤 暢聡, 影近 弘之: ビタミンD活性を有するリトコール酸誘導体の構造展開 ビタミン. 2019.08; 93 (8): 370-371. ( 医中誌 )

高地 雄太: 【システム臨床免疫学】eQTLによる自己免疫疾患の病因解明 炎症と免疫. 2019.08; 27 (5): 398-401. ( 医中誌 )

林 哲太郎, 二階堂 愛: 生化学・分子生物学　1細胞RNAシーケンス法における遺伝子全長被覆度と網羅度の役割 医学のあゆみ. 2019.07; 270 (3): 258-260. ( 医中誌 )

堀端 康博, 三橋 里美, 青山 智英子, 清水 裕晶, 杉本 博之: 筋分化におけるホスファチジルコリン輸送タンパク質STARD7の役割の解析 脂質生化学研究. 2019.06; 61 118-120. ( 医中誌 )

土屋 遥香, 太田 峰人, 住友 秀次, 石垣 和慶, 鈴木 亜香里, 高地 雄太, 土田 優美, 庄田 宏文, 乾 洋, 武冨 修治, 門野 夕峰, 田中 栄, 山本 一彦, 藤尾 圭志: 自己免疫疾患のメカニズムへの最新のアプローチ　関節リウマチ患者由来滑膜線維芽細胞の統合的機能ゲノム解析 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 202. ( 医中誌 )

高地 雄太: 自己免疫疾患のメカニズムへの最新のアプローチ　臨床的無筋症性皮膚筋炎におけるWDFY4の役割 日本リウマチ学会総会・学術集会プログラム・抄録集. 2019.03; 63回 203. ( 医中誌 )

高地 雄太: 【リウマチ性疾患における遺伝素因と環境要因】強皮症および炎症性筋疾患の遺伝素因 リウマチ科. 2019.02; 61 (2): 116-121. ( 医中誌 )

高地 雄太: 【自己免疫疾患の個別化医療】ゲノム情報による自己免疫疾患の個別化医療 Precision Medicine. 2019.01; 2 (1): 10-13. ( 医中誌 )

林哲太郎, 二階堂愛: 1細胞RNAシーケンス法における遺伝子全長被覆度と網羅度の役割 医学のあゆみ. 2019; 270 (3): 258-260.

二階堂愛, 二階堂愛: 進歩を続ける1細胞トランスクリプトーム計測法 実験医学. 2019; 37 (20): 3491-3496.

二階堂愛, 二階堂愛: シングルセルゲノム情報解析の基盤技術 実験医学. 2019; 37 (20): 3498-3501.

細江 雄飛, 稲葉 理美, 沼本 修孝, 伊藤 暢聡, 織田 昌幸: SH2ドメインスワップダイマーが与える安定性と機能への影響評価 日本生化学会大会プログラム・講演要旨集. 2018.09; 91回 [1T11e-04(1P. ( 医中誌 )

沼本 修孝, 赤津 ちづる, 品川 健朗, 鍔田 武志, 伊藤 暢聡: B細胞抑制性因子CD72とSm/RNPの複合体形成様式の推測 日本生化学会大会プログラム・講演要旨集. 2018.09; 91回 [1P-084]. ( 医中誌 )

二階堂 愛: 新しいゲノム科学と生化学　1細胞トランスクリプトームのための生化学 日本生化学会大会プログラム・講演要旨集. 2018.09; 91回 [2S01a-01]. ( 医中誌 )

肝臓がんにおける免疫抑制機構のゲノム解析(Genomic insights into immune suppression in liver cancer) 2018.09; 77回 906. ( 医中誌 )

中川 草, 上田 真保子, 中野 雄介, 安田 二朗, 小柳 義夫, 佐藤 佳, 黒崎 陽平: 微生物・感染症学における多様なDry解析アプローチ　公共データベースを活用したエボラウイルスGP遺伝子の感染効率に関与する塩基突然変異の同定 日本獣医学会学術集会講演要旨集. 2018.08; 161回 209. ( 医中誌 )

藤田 征志, 井元 清哉, 山口 類, 長谷川 嵩矩, 林 周斗, 宮野 悟, 松原 長秀, 冨田 尚裕, 山上 裕機, 茶山 一彰, 中川 英刀: 肝臓がんおよび大腸がんのゲノム・トランスクリプトーム解析による腫瘍免疫微小環境の特性評価 日本がん免疫学会総会プログラム・抄録集. 2018.07; 22回 152. ( 医中誌 )

二階堂 愛, 林 哲太郎, 尾崎 遼, 梅田 茉奈: JAPANESE AUTHOR シングルセル解析の新たな計測技術を開発 Natureダイジェスト. 2018.05; 15 (5): 22-25.

石澤 通康, Otero Rocio, 沼本 修孝, 伊倉 貞吉, 伊藤 暢聡, 常盤 広明, Mourino Antonio, 槇島 誠, 山田 幸子: 25-Adamantyl-1α、25-dihydroxyvitamin D3誘導体の組織選択的活性 ビタミン. 2018.04; 92 (4): 232. ( 医中誌 )

笹川 洋平, 團野 宏樹, 二階堂 愛: (プレスリリース) 数千個の1細胞からRNA量と種類を正確に計測 －細胞機能を網羅的・高精度・低コストに同定可能に－ 2018.03;

三橋 里美: 【ニューロジェネティクス新時代　次世代シークエンサーが拓く新しい世界】筋疾患・神経疾患のジェネティクス　次世代シークエンサーを用いた筋疾患診断 Clinical Neuroscience. 2018.02; 36 (2): 187-190. ( 医中誌 )

二階堂 愛: 1細胞トランスクリプトーム技術の最先端 Medical Science Digest. 2018.01; 44 (1): 5-6. ( 医中誌 )

中川 草, 三橋 里美, Kryukov Kirill, 今西 規: 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】迅速な細菌種の組成解析 実験医学. 2018.01; 36 (1): 32-37. ( 医中誌 )

三橋 里美, 中川 草, 上田 真保子, 今西 規, Frith Martin C., 三橋 弘明: 【どこでも 誰でも より長く　ナノポアシークエンサーが研究の常識を変える!】リピート数が関与する疾患の診断に向けて　サブテロメア領域のD4Z4マクロサテライトリピートを読む 実験医学. 2018.01; 36 (1): 44-48. ( 医中誌 )

落合博, 落合博, 梅田茉奈, 林哲太郎, 芳村美佳, 原田哲仁, 大川恭行, 山本卓, 二階堂愛: マウス胚性幹細胞における遺伝子発現量多様性の制御機構の包括的解析 日本生化学会大会(Web). 2018; 91st [3S08m-03].

上田 真保子, 三橋 里美, 三橋 弘明, 今西 規, 中川 草: 細胞融合にかかわる内在性レトロウイルス由来遺伝子の同定 生命科学系学会合同年次大会. 2017.12; 2017年度 [3P-1463]. ( 医中誌 )

佐藤 海, 大友 麻子, 上田 真保子, 杉山 純也, 小野 鈴花, 三井 駿, 中川 草, 秦野 伸二: N末端自己相互作用ドメインのALS2疾患原因変異は、ALS2の正常な多量体形成やエンドソーム局在を阻害する 生命科学系学会合同年次大会. 2017.12; 2017年度 [3P-1120]. ( 医中誌 )

飯田 剛, 神山 淳, 名越 慈人, 辻 収彦, 二階堂 愛, 佐野坂 司, 西村 空也, 小林 喜臣, 松本 守雄, 岡野 栄之, 中村 雅也: 脊髄損傷に対する細胞移植治療　安全かつ有効なヒトiPS細胞由来神経幹細胞の条件 日本整形外科学会雑誌. 2017.08; 91 (8): S1587. ( 医中誌 )

梅田 茉奈, 林 哲太郎, 笹川 洋平, 二階堂 愛: 効果的なstranded RNA-Seq用ライブラリー調製キット 選定評価試験 ～ Embryonic stem cel（l ES cell）およびPrimitive endoderm cel（l PrE cell） を用いたrRNA depletion RNA-Seq ～ Application Note NIPPON Genetics. 2017.07;

Ikura T., Ito N.: Functional conversion from peptydyl-prolyl isomerase to protease by a single amino acid substitution EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS. 2017.07; 46 S162.

三橋 里美, 松本 直通: 【精神科におけるてんかん診療】てんかんの遺伝と遺伝子診断 臨床精神医学. 2017.07; 46 (7): 843-847. ( 医中誌 )

松本 拡高, 二階堂 愛: 【日常化するシングルセル遺伝子発現解析】網羅的な1細胞発現から知識を取り出すデータ解析技術の新展開 細胞. 2017.05; 49 (6): 273-276. ( 医中誌 )

二階堂 愛: 微量サンプルを用いたオミックス解析　RamDA-seq　あらゆるRNAの完全長を捉える1細胞total RNAシーケンス法 日本細胞生物学会大会講演要旨集. 2017.05; 69回 24. ( 医中誌 )

棚谷 綾, 佐々木 晴江, 川崎 波留, 増野 弘幸, 河内 恵美子, 伊藤 暢聡, 石田 寛明, 山本 恵子, 平野 真梨子, 影近 弘之: 高いビタミンD活性を有するリトコール酸誘導体の創製 ビタミン. 2017.04; 91 (4): 301. ( 医中誌 )

團野 宏樹, 二階堂 愛: 実験講座　1細胞トランスクリプトーム解析の高出力化と自動化 生体の科学. 2017.04; 68 (2): 178-184. ( 医中誌 )

三橋 里美: 【ミオパチー:最近のトピックス】顔面肩甲上腕型筋ジストロフィー 神経内科. 2017.03; 86 (3): 342-345. ( 医中誌 )

三橋 里美: 【筋肉研究の最前線】次世代シークエンサー(NGS)を用いた筋疾患診断 Clinical Calcium. 2017.02; 27 (3): 401-408. ( 医中誌 )

Mitsuhashi S: [Diagnosis for skeletal muscle disorders using next-generation sequencing.] Clinical calcium. 2017; 27 (3): 401-408. ( PubMed , DOI )

飯田剛, 神山淳, 名越慈人, 辻収彦, 二階堂愛, 佐野坂司, 西村空也, 小林喜臣, 松本守雄, 岡野栄之, 中村雅也: 脊髄損傷に対する細胞移植治療-安全かつ有効なヒトiPS細胞由来神経幹細胞の条件- 日本整形外科学会雑誌. 2017; 91 (8): S1587.

二階堂愛: RamDA-seq:あらゆるRNAの完全長を捉える1細胞total RNAシーケンス法 日本細胞生物学会大会(Web). 2017; 69th 24.

二階堂愛: RamDA-seq:あらゆるRNAの全長を1細胞レベルで検出するRNAシーケンス法 日本生化学会大会(Web). 2017; 90th [2AS14-2].

團野宏樹, 笹川洋平, 二階堂愛: 高出力1細胞トランスクリプトーム解析の展開と多細胞生物学 日本生化学会大会(Web). 2017; 90th [3AW05-7].

林哲太郎, 尾崎遼, 笹川洋平, 團野宏樹, 梅田茉奈, 二階堂愛: 1細胞トータルRNAシーケンス法は,発生生物学の「ゆらぎ」解析にパラダイムシフトをもたらすのか? 日本生化学会大会(Web). 2017; 90th [3PW15-1].

三橋 里美, 西野 一三: 【筋ジストロフィー・筋疾患-最近の進歩】ミオパチーの臨床と研究の最新トピックス　次世代シークエンサーによる筋疾患の診断 医学のあゆみ. 2016.10; 259 (1): 45-49. ( 医中誌 )

水野 晋一, 林 周斗, 長谷川 嵩矩, 清水 英悟, 上村 光弘, 山口 類, 宮野 悟, 中川 英刀, 井元 清哉: ヒトにおけるCancer Immunosurveillance-PanCancer全ゲノム解析によるアプローチ 日本がん免疫学会総会プログラム・抄録集. 2016.06; 20回 168. ( 医中誌 )

三橋 里美: 【筋ジストロフィーup to date】各病型の特徴と診断のポイント　顔面肩甲上腕型筋ジストロフィー Clinical Neuroscience. 2016.03; 34 (3): 328-329. ( 医中誌 )

林 哲太郎, 二階堂 愛: １細胞採取法としてのフローサイトメトリーと関連技術-１細 胞遺伝子発現解析の観点から 実験医学別冊「新版 フローサイトメトリー もっと幅広く使いこなせる！」. 2016; 267-274.

林 哲太郎, 二階堂 愛: 「フローサイトメーターを用いた１細胞遺伝子発現解析の実際 実験医学別冊「新版 フローサイトメトリー もっと幅広く使いこなせる！」. 2016; 275-283.

二階堂愛: 超高精度1細胞RNA-seqを実現する生化学 日本生化学会大会(Web). 2016; 89th [2S03-4].

三橋 里美: 【骨格筋症候群(第2版)-その他の神経筋疾患を含めて-】[上]　筋ジストロフィーおよび膜イオンチャネル異常症　先天性筋ジストロフィー(CMD)　非福山型先天性筋ジストロフィー　巨大ミトコンドリア先天性筋ジストロフィー(コリンキナーゼβ欠損症) 日本臨床. 2015.05; 別冊 (骨格筋症候群(上)): 173-176. ( 医中誌 )

埜中 征哉, 辻野 精一, 三橋 里美, 西野 一三: 日本におけるPompe病の現状と臨床病理学的特徴 神経内科. 2015.05; 82 (5): 537-545. ( 医中誌 )

三橋 里美, 西野 一三: 【ますます臨床利用が進む遺伝子検査-その現状と今後の展開そして課題-】(第3章)生殖細胞系列遺伝学的検査の臨床応用　各種疾患における診療目的の遺伝学的検査　筋疾患の遺伝学的検査 遺伝子医学MOOK. 2015.04; (28): 136-140. ( 医中誌 )

露崎弘毅, 師田郷太, 師田郷太, 石井学, 仲里猛留, 宮崎智, 二階堂愛: 文献注釈情報MeSHを利用した網羅的な遺伝子の機能アノテーションパッケージ 日本生化学会大会(Web). 2015; 88th [3W24-3].

二階堂愛: ncRNA研究をはじめよう 3. 1細胞からのlncRNAの網羅的計測 実験医学. 2015; 33 (20): 3385-3389.

二階堂愛: Quartz-Seq RamDAによる非ポリA mRNAの1細胞発現解析 日本生化学会大会(Web). 2015; 88th [2W16-5].

木村 円, 中村 治雅, 三橋 里美, 竹内 芙実, 森 まどか, 清水 玲子, 小牧 宏文, 林 由起子, 西野 一三, 川井 充, 武田 伸一: 今開かれる筋ジストロフィー治療の扉　筋ジストロフィーの臨床開発を推進する研究基盤　RemudyとMDCTN 臨床神経学. 2014.12; 54 (12): 1069-1070. ( 医中誌 )

Kimura E, Nakamura H, Mitsuhashi S, Takeuchi F, Mori-Yoshimura M, Shimizu R, Komaki H, Hayashi YK, Nishino I, Kawai M, Takeda S: [Infrastructure for the clinical research of muscular dystrophies: remudy and MDCTN]. Rinsho shinkeigaku = Clinical neurology. 2014; 54 (12): 1069-70. ( PubMed , DOI )

二階堂愛: 1細胞からすべてのRNAを計測するシーケンス技術の現在と展望 日本生化学会大会(Web). 2014; 87th [1S05p-5].

二階堂 愛: NGS現場の会 第三回研究会開催にあたって 次世代シークエンサーのその先に : シークエンス技術の現在と未来を考える 細胞工学. 2013; 32 (8): 893-897.

齊藤 祐子, 塩谷 彩子, 池田 謙輔, 青天目 信, 三橋 里美: 【病理解剖マニュアル】(第1部)病理解剖の進め方、切り出し方法など　特殊な部位、手技、検体保存　末梢神経、筋 病理と臨床. 2012.04; 30 (臨増): 69-76. ( 医中誌 )

佐野 雅己, 藤本 仰一, 小林 徹也, 二階堂 愛, ート作成者: パネルディスカッション (差異・パターン形成と拡散方程式の現在)(生物学的時間とスケール変換) (離散力学系の分子細胞生物学への応用数理) 数理解析研究所講究録. 2010.07; 1698 51-54.

二階堂愛, 愛, ノート作成: パネルディスカッション : まとめ (離散力学系の分子細胞生物学への応用数理) 数理解析研究所講究録. 2010.07; 1698 232-236.

近藤 滋, 二階堂愛, 愛, ート作成: 話題提供「生物学における理論の有用性」 (進化とネットワーク) (離散力学系の分子細胞生物学への応用数理) 数理解析研究所講究録. 2010.07; 1698 152-161.

泰地 真弘人, 二階堂 愛, ノ: パネルディスカッション (タンパク質構造と進化と情報幾何) (離散力学系の分子細胞生物学への応用数理) 数理解析研究所講究録. 2010.07; 1698 229-231.

青山 智英子, 三橋 里美, 杉本 博之, 西野 一三: コリンキナーゼβノックアウトマウスの解析とヒト疾患における検討 脂質生化学研究. 2010.05; 52 85-87. ( 医中誌 )

三橋 里美, 川井 充: 【神経内科の病気のすべて】末梢神経疾患・筋疾患　筋疾患の分類と診断 からだの科学. 2010.05; (265): 174-179. ( 医中誌 )

二階堂愛: 遺伝子発現とChIP-seqデータの統合による転写制御ネットワークの同定 生化学. 2010; 83回・33回 1W20-4.

三橋 里美, 梁 文貞, 西野 一三: 【筋病理　最近の進歩】代謝性ミオパチーの筋病理 神経内科. 2009.10; 71 (4): 369-376. ( 医中誌 )

三橋 里美, 西野 一三: 代謝性ミオパチーの最近の話題 小児科. 2009.05; 50 (5): 603-609. ( 医中誌 )

三橋 里美, 埜中 征哉, 西野 一三: 【糖原病II型(Pompe病)　診断から治療へ】糖原病II型(Pompe病)の診断へのアプローチ　病理診断 神経内科. 2009.05; 70 (5): 434-436. ( 医中誌 )

Ikura Teikichi, Kinoshita Kengo, Ito Nobutoshi: [Correlation between structure and function of peptidyl-prolyl isomerase]. Tanpakushitsu Kakusan Koso. 2009.02; 54 (2): 167-172. ( PubMed )

Nakamura Haruki, Ito Nobutoshi, Kusunoki Masami: [Development of PDBj: Advanced database for protein structures]. Tanpakushitsu Kakusan Koso. 2002.06; 47 (8 Suppl): 1097-1101. ( PubMed )

二階堂愛, 二階堂愛: 超多検体オミクスによる細胞特性の計測 日本再生医療学会総会(Web). 2021; 20th

小関準, 小嶋泰弘, 林周斗, 廣瀬遥香, NAM Hyunha, 島村徹平: アミノ酸変異によるタンパク質立体構造変化のトポロジカルデータ解析 分子科学討論会講演プログラム&要旨(Web). 2021; 15th

大川真澄, 大川真澄, 佐藤天平, 林哲太郎, 二階堂愛, 二階堂愛, 二階堂愛: マウス小腸における老化が細胞構成比および遺伝子に与える影響とその領域特異性 日本分子生物学会年会プログラム・要旨集(Web). 2020; 43rd

亀田健, 亀田健, 鈴木美穂, 二階堂愛, 粟津暁紀, 冨樫祐一, 冨樫祐一: DNAの化学修飾と遺伝子発現制御 システム制御情報学会研究発表講演会講演論文集(CD-ROM). 2020; 64th

森田梨津子, 三千典子, 佐々木弘子, 林哲太郎, 梅田茉奈, 芳村美佳, 山本尚貴, 柴田達夫, 阿部高也, 清成寛, 古田泰秀, 古田泰秀, 二階堂愛, 二階堂愛, 藤原裕展: 毛包幹細胞の発生起源と誘導過程 日本分子生物学会年会プログラム・要旨集(Web). 2020; 43rd

高田仁実, 笹川洋平, 芳村美佳, 田中かおり, 二階堂愛, 栗崎晃: 胃の恒常性維持を司る幹細胞分化制御機構の解析 日本分子生物学会年会プログラム・要旨集(Web). 2020; 43rd

二階堂愛: ヒト細胞アトラス時代の高出力1細胞RNA-seq解析技術 日本再生医療学会総会(Web). 2020; 19th

石原悟, 笹川洋平, 亀田健, 亀田健, 山下隼人, 琴村直恵, 阿部真之, 下野洋平, 二階堂愛: 転写開始点でのクロマチンの部分凝集は遺伝子の転写量と負の相関を示す 日本分子生物学会年会プログラム・要旨集(Web). 2019; 42nd

林哲太郎, 梅田茉奈, 尾崎遼, 笹川洋平, 二階堂愛: RamDA-seqがもたらす1細胞RNAシーケンス法の新たな展望 日本分子生物学会年会プログラム・要旨集(Web). 2018; 41st

石原悟, 笹川洋平, 琴村直恵, 山下隼人, 山下隼人, 鏡裕行, 阿部真之, 二階堂愛: ヌクレオソーム間での会合の違いでクロマチンを分画する 日本分子生物学会年会プログラム・要旨集(Web). 2018; 41st

笹川洋平, 田中かおり, 二階堂愛: 高出力型1細胞RNA-seq法Quartz-Seq2の開発と超多検体への応用 日本分子生物学会年会プログラム・要旨集(Web). 2018; 41st

二階堂愛: 細胞集団の不均質性を1細胞・全遺伝子解像度で高速で高精度に測定するオミクス技術 日本再生医療学会総会(Web). 2018; 17th

小林英城, 長濱統彦, 荒井渉, 笹川洋平, 梅田茉奈, 林哲太郎, 二階堂愛, 渡部裕美, 小栗一将, 北里洋, 藤岡勘太郎, 木戸ゆかり, 高見英人: 超深海性ヨコエビ,カイコウオオソコエビの糖質分解酵素遺伝子の解析 日本生物工学会大会講演要旨集. 2018; 70th

二階堂愛: 1細胞トランスクリプトームのための生化学 日本生化学会大会(Web). 2018; 91st

二階堂愛: RamDA-seq:Pre-mRNA/ncRNAの全長を1細胞レベルで検出するRNAシーケンス法 日本核酸医薬学会年会講演要旨集. 2017; 3rd

二階堂愛: RamDA-seq:1細胞完全長Total RNAシーケンス法 日本人類遺伝学会大会プログラム・抄録集. 2017; 62nd

小林英城, 荒井渉, 高見秀人, 笹川洋平, 梅田茉奈, 林哲太郎, 二階堂愛: 超深海性ヨコエビが保有する多糖分解酵素の遺伝子解析 ブルーアース要旨集. 2017; 2017

An in silico automated pipeline to identify tumor specic neoantigens from whole genome and exome sequencing data 2016;

二階堂愛: 亜集団特異的発現マーカーを1細胞・全遺伝子解像度で探索するためのRNAシーケンス技術 再生医療. 2016; 15

林誠, 林誠, 岩崎佳子, 海老澤昌史, 芳村美佳, 林哲太郎, 笹川洋平, 二階堂愛, 吉崎悟朗: 1細胞RNAseqを用いた魚類精原幹細胞マーカーの探索 日本水産学会大会講演要旨集. 2016; 2016

笹川洋平, 海老澤昌史, 團野宏樹, 林哲太郎, 二階堂愛: セルソーターを用いたハイスループット1細胞RNA-seq法Quartz-Seq2の開発 日本分子生物学会年会プログラム・要旨集(Web). 2016; 39th

六峰弘晃, 六峰弘晃, 二階堂愛, 内匠透, 三澤日出巳: アンジェルマン症候群モデルマウスの大脳皮質におけるRNA-seq解析 日本分子生物学会年会プログラム・要旨集(Web). 2016; 39th

二階堂愛: 生命科学研究を加速するためのAIを計測と計算の融合から考える 第15回産総研・産技連LS-BT合同研究発表会要旨集,2016. 2016;

林哲太郎, 笹川洋平, 尾崎遼, 團野宏樹, 梅田茉奈, 二階堂愛: RamDA-seq:完全長を捉える新規1細胞トータルRNAシーケンス法 日本分子生物学会年会プログラム・要旨集(Web). 2016; 39th

Sasagawa Y, Nikaido I, Hayashi T, Danno H, Uno KD, Imai T, Ueda HR: Quartz-Seq: a highly reproducible and sensitive single-cell RNA sequencing method, reveals non-genetic gene-expression heterogeneity. Genome Biology. 2013.04; 14 (4): R31. ( PubMed , DOI )

二階堂愛, 笹川洋平: 1細胞RNA-Seqを用いた幹細胞の細胞状態ゆらぎの理解に向けて 日本分子生物学会年会プログラム・要旨集(Web). 2013; 36th

水野洋介, 二階堂愛, 岡崎康司: マイクロアレイを用いた生活習慣病関連遺伝子の解明-発現マッピングとeQTLマッピングの可能性- 遺伝子医学MOOK DNAチップ/マイクロアレイ臨床応用の実際 (メディカル ドゥ). 2008.06; (10): 228-233.

山下泉, 八木研, 水野洋介, 徳澤佳美, 二階堂愛, 仲地豊, 八塚由紀子, 二宮裕一, 坊農秀雅, 須田立雄, 岡崎康司: Id4は骨芽細胞分化と脂肪細胞分化のクロストークを制御する因子である 生化学. 2008;

二階堂愛, 美野輪治, 八木研, 桜庭喜行, 坊農秀雅, 権藤洋一, 野田哲生, 城石俊彦, 林崎良英, 岡崎康司: 肝臓トランスクリプトームと血清脂質マーカーの情報を統合した連鎖解析による疾患遺伝子の発見 日本分子生物学会年会講演要旨集. 2005; 28th

仲地豊, 二階堂愛, 八木研, 登内未緒, 坊農秀雅, 岡崎康司: ChIP on chipによるゲノムスケールでの転写因子結合領域探索の試み 日本分子生物学会年会プログラム・講演要旨集. 2004; 27th

八木研, 近藤大輔, 二階堂愛, 加野浩一郎, 岡崎康司: 成熟脂肪細胞由来の前駆脂肪細胞株DFAT-D1の樹立 日本分子生物学会年会プログラム・講演要旨集. 2004; 27th

二階堂愛, 八木研, 坊農秀雅, 岡崎康司: ジェネティクスとトランスクリプトームの統合による脂質代謝の遺伝子ネットワークの解明 日本分子生物学会年会プログラム・講演要旨集. 2004; 27th