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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 )

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 )

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 )

Esther Rheinbay, Morten Muhlig Nielsen, Federico Abascal, Jeremiah A Wala, Ofer Shapira, Grace Tiao, Henrik Hornshøj, Julian M Hess, Randi Istrup Juul, Ziao Lin, Lars Feuerbach, Radhakrishnan Sabarinathan, Tobias Madsen, Jaegil Kim, Loris Mularoni, Shimin Shuai, Andrés Lanzós, Carl Herrmann, Yosef E Maruvka, Ciyue Shen, Samirkumar B Amin, Pratiti Bandopadhayay, Johanna Bertl, Keith A Boroevich, John Busanovich, Joana Carlevaro-Fita, Dimple Chakravarty, Calvin Wing Yiu Chan, David Craft, Priyanka Dhingra, Klev Diamanti, Nuno A Fonseca, Abel Gonzalez-Perez, Qianyun Guo, Mark P Hamilton, Nicholas J Haradhvala, Chen Hong, Keren Isaev, Todd A Johnson, Malene Juul, Andre Kahles, Abdullah Kahraman, Youngwook Kim, Jan Komorowski, Kiran Kumar, Sushant Kumar, Donghoon Lee, Kjong-Van Lehmann, Yilong Li, Eric Minwei Liu, Lucas Lochovsky, Keunchil Park, Oriol Pich, Nicola D Roberts, Gordon Saksena, Steven E Schumacher, Nikos Sidiropoulos, Lina Sieverling, Nasa Sinnott-Armstrong, Chip Stewart, David Tamborero, Jose M C Tubio, Husen M Umer, Liis Uusküla-Reimand, Claes Wadelius, Lina Wadi, Xiaotong Yao, Cheng-Zhong Zhang, Jing Zhang, James E Haber, Asger Hobolth, Marcin Imielinski, Manolis Kellis, Michael S Lawrence, Christian von Mering, Hidewaki Nakagawa, Benjamin J Raphael, Mark A Rubin, Chris Sander, Lincoln D Stein, Joshua M Stuart, Tatsuhiko Tsunoda, David A Wheeler, Rory Johnson, Jüri Reimand, Mark Gerstein, Ekta Khurana, Peter J Campbell, Núria López-Bigas, Joachim Weischenfeldt, Rameen Beroukhim, Iñigo Martincorena, Jakob Skou Pedersen, Gad Getz, PCAWG Consortium. PCAWG Consortium (Satoru Miyano, et al.): Analyses of non-coding somatic drivers in 2,658 cancer whole genomes. Nature. 2020.02; 578 (7793): 102-111. ( PubMed , DOI )

Yilong Li, Nicola D Roberts, Jeremiah A Wala, Ofer Shapira, Steven E Schumacher, Kiran Kumar, Ekta Khurana, Sebastian Waszak, Jan O Korbel, James E Haber, Marcin Imielinski, , Joachim Weischenfeldt, Rameen Beroukhim, Peter J Campbell, PCAWG Consortium (Satoru Miyano, et al.): Patterns of somatic structural variation in human cancer genomes. Nature. 2020.02; 578 (7793): 112-121. ( PubMed , DOI )

Pan-cancer analysis of whole genomes. Nature. 2020.02; 578 (7793): 82-93. ( PubMed , DOI )

A deep learning system accurately classifies primary and metastatic cancers using passenger mutation patterns 2020.02; 11 (1): 7573. ( PubMed , DOI )

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 )

Tsuyuzaki Koki, Sato Hiroyuki, Sato Kenta, Nikaido Itoshi: Benchmarking principal component analysis for large-scale single-cell RNA-sequencing GENOME BIOLOGY. 2020.01; 21 (1): 9. ( PubMed , DOI )

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 )

Discrimination of Dormant and Active Hematopoietic Stem Cells by G0 Marker Reveals Dormancy Regulation by Cytoplasmic Calcium. 2019.12; 29 (12): 4144-4158. ( 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 )

Aberrant RNA Splicing Contributes to the Pathogenesis of EVI-Rearranged Myeloid Leukemias 2019.11; 134 (Supplement_1): 917. ( 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. ( ichushi )

Antitumor immunity augments the therapeutic effects of p53 activation on acute myeloid leukemia. 2019.10; 10 (1): 4869. ( 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 )

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. ( ichushi )

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. ( ichushi )

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 )

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

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 )

Opposing effects of acute versus chronic inhibition of p53 on decitabine's efficacy in myeloid neoplasms. 2019.06; 9 (1): 8171. ( PubMed , 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 )

Kazumi Suzuki, Yutaka Miura, Yuki Mochida, Takuya Miyazaki, Kazuko Toh, Yasutaka Anraku, Vinicio Melo, Xueying Liu, Takehiko Ishii, Osamu Nagano, Hideyuki Saya, Horacio Cabral, Kazunori Kataoka: Glucose transporter 1-mediated vascular translocation of nanomedicines enhances accumulation and efficacy in solid tumors. Journal of Controlled Release. 2019.05; 301 28-41. ( 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. ( ichushi )

Kryukov K, Ueda MT, Imanishi T, Nakagawa S: Systematic survey of non-retroviral virus-like elements in eukaryotic genomes. Virus research. 2019.03; 262 30-36. ( PubMed , DOI )

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 )

Saida K, Silva S, Solar B, Fujita A, Hamanaka K, Mitsuhashi S, Koshimizu E, Mizuguchi T, Miyatake S, Takata A, Miyake N, Matsumoto N: SOFT syndrome in a patient from Chile. American journal of medical genetics. Part A. 2019.03; 179 (3): 338-340. ( PubMed , DOI )

A Bayesian model integration for mutation calling through data partitioning 2019.03; 35 (21): 4247-4254. ( PubMed , DOI )

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 )

Sato Kenta, Tsuyuzaki Koki, Shimizu Kentaro, Nikaido Itoshi: CellFishing.jl: an ultrafast and scalable cell search method for single-cell RNA sequencing GENOME BIOLOGY. 2019.02; 20 (1): 31. ( PubMed , DOI )

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 )

Yu Yi, Hyun Jin Kim, Meng Zheng, Peng Mi, Mitsuru Naito, Beob Soo Kim, Hyun Su Min, Kotaro Hayashi, Federico Perche, Kazuko Toh, Xueying Liu, Yuki Mochida, Hiroaki Kinoh, Horacio Cabral, Kanjiro Miyata, Kazunori Kataoka: Glucose-linked sub-50-nm unimer polyion complex-assembled gold nanoparticles for targeted siRNA delivery to glucose transporter 1-overexpressing breast cancer stem-like cells. Journal of Controlled Release. 2019.02; 295 268-277. ( PubMed , DOI )

Lin CY, Crowley ST, Uchida S, Komaki Y, Kataoka K, Itaka K: Treatment of Intervertebral Disk Disease by the Administration of mRNA Encoding a Cartilage-Anabolic Transcription Factor. Molecular therapy. Nucleic acids. 2019.02; 16 162-171. ( PubMed , DOI )

Naoto Yoshinaga, Satoshi Uchida, Mitsuru Naito, Kensuke Osada, Horacio Cabral, Kazunori Kataoka: Induced packaging of mRNA into polyplex micelles by regulated hybridization with a small number of cholesteryl RNA oligonucleotides directed enhanced in vivo transfection Biomaterials. 2019.01; 197 255-267. ( DOI )

Satoshi Uchida, Kazunori Kataoka: Design concepts of polyplex micelles for in vivo therapeutic delivery of plasmid DNA and messenger RNA Journal of Biomedical Materials Research Part A. 2019.01; 107 978-990. ( DOI )

Yurina Miyashita, Nobutaka Numoto, Sundaram Arulmozhiraja, Shogo Nakano, Naoya Matsuo, Kanade Shimizu, Osamu Shibahara, Michiko Fujihara, Hiroki Kakuta, Sohei Ito, Teikichi Ikura, Nobutoshi Ito, Hiroaki Tokiwa: Dual conformation of the ligand induces the partial agonistic activity of retinoid X receptor α (RXRα). FEBS Lett.. 2019.01; 593 (2): 242-250. ( 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: GNE myopathy in Chinese population: hotspot and novel mutations. Journal of human genetics. 2019.01; 64 (1): 11-16. ( PubMed , DOI )

Otani T, Noma H, Sugasawa S, Kuchiba A, Goto A, Yamaji T, Kochi Y, Iwasaki M, Matsui S, Tsunoda T: Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. European journal of human genetics : EJHG. 2019.01; 27 (1): 140-149. ( PubMed , DOI )

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. ( ichushi )

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 )

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 )

三橋 里美, 中川 草, 上田 真保子, 今西 規, 三橋 弘明, フリス・マーティン : 筋機能と病態研究のフロンティア　ナノポアシークエンサーを用いたD4Z4リピートの解析 日本筋学会学術集会プログラム・抄録集. 2018.08; 4回 31. ( ichushi )

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 )

Mutant ASXL1 cooperates with BAP1 to promote myeloid leukaemogenesis. 2018.07; 9 (1): 2733. ( 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 )

Expression of mutant Asxl1 perturbs hematopoiesis and promotes susceptibility to leukemic transformation. 2018.06; 215 (6): 1729-1747. ( 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 )

Abdul-Hackam Ranneh, Hiroyasu Takemoto, Shunya Sakuma, Aziz Awaad, Takahiro Nomoto, Yuki Mochida, Makoto Matsui, Keishiro Tomoda, Mitsuru Naito, Nobuhiro Nishiyama: An Ethylenediamine-based Switch to Render the Polyzwitterion Cationic at Tumorous pH for Effective Tumor Accumulation of Coated Nanomaterials. Angewandte Chemie International Edition. 2018.04; 57 (18): 5057-5061. ( 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 )

Naoko Matsubara, Akihiro Imamura, Tatsuya Yonemizu, Chizuru Akatsu, Hongrui Yang, Akiharu Ueki, Natsuki Watanabe, Hajjaj Abdu-Allah, Nobutaka Numoto, Hiromu Takematsu, Shinobu Kitazume, Thomas F Tedder, Jamey D Marth, Nobutoshi Ito, Hiromune Ando, Hideharu Ishida, Makoto Kiso, Takeshi Tsubata: CD22-Binding Synthetic Sialosides Regulate B Lymphocyte Proliferation Through CD22 Ligand-Dependent and Independent Pathways, and Enhance Antibody Production in Mice. Front Immunol. 2018.04; 9 820. ( PubMed , DOI )

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 )

High expression of ABCG2 induced by EZH2 disruption has pivotal roles in MDS pathogenesis. 2018.02; 32 (2): 419-428. ( 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 )

Kobayashi Hideki, Nagahama Takahiko, Arai Wataru, Sasagawa Yohei, Umeda Mana, Hayashi Tetsutaro, Nikaido Itoshi, Watanabe Hiromi, Oguri Kazumasa, Kitazato Hiroshi, Fujioka Kantaro, Kido Yukari, Takami Hideto: Polysaccharide hydrolase of the hadal zone amphipods Hirondellea gigas BIOSCIENCE BIOTECHNOLOGY AND BIOCHEMISTRY. 2018; 82 (7): 1123-1133. ( PubMed , DOI )

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Naoki Umezawa, Kasumi Tsuji, Shin Sato, Masaki Kikuchi, Hisami Watanabe, Yuhei Horai, Masashi Yamaguchi, Yosuke Hisamatsu, Takashi Umehara, Tsunehiko Higuchi: Inhibition of FAD-dependent lysine-specific demethylases by chiral polyamine analogues. RSC Advances. 2018; 8 (64): 36895. ( DOI )

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Tsusaka T, Kikuchi M, Shimazu T, Suzuki T, Sohtome Y, Akakabe M, Sodeoka M, Dohmae N, Umehara T, Shinkai Y: Tri-methylation of ATF7IP by G9a/GLP recruits the chromodomain protein MPP8. Epigenetics Chromatin. 2018; 11 (1): 56. ( PubMed , DOI )

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 )

森田 梨津子, 三千 典子, 林 哲太郎, 梅田 茉奈, 芳村 美佳, 二階堂 愛, 阿部 高也, 清成 寛, 古田 泰秀, 藤原 裕展: 毛包幹細胞の起源と誘導メカニズムの解明 生命科学系学会合同年次大会. 2017.12; 2017年度 [4P2T16-0817)].

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 )

Kazuki Miyano, Horacio Cabral, Yutaka Miura, Yu Matsumoto, Yuki Mochida, Hiroaki Kinoh, Caname Iwata, Osamu Nagano, Hideyuki Saya, Nobuhiro Nishiyama, Kazunori Kataoka, Tatsuya Yamasoba: cRGD peptide installation on cisplatin-loaded nanomedicines enhances efficacy against locally advanced head and neck squamous cell carcinoma bearing cancer stem-like cells. Journal of Controlled Release. 2017.09; 261 275-286. ( DOI )

Yuta Shinohara, Yohei M. Koyama, Maki Ukai-Tadenuma, Takatsugu Hirokawa, Masaki Kikuchi, Rikuhiro G. Yamada, Hideki Ukai, Hiroshi Fujishima, Takashi Umehara, Kazuki Tainaka, Hiroki R. Ueda: Temperature-Sensitive Substrate and Product Binding Underlie Temperature-Compensated Phosphorylation in the Clock. Molecular cell. 2017.09; 67 (5): 783-798. ( 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. ( ichushi )

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. ( ichushi )

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 )

Yuichi Amano, Masaki Kikuchi, Shin Sato, Shigeyuki Yokoyama, Takashi Umehara, Naoki Umezawa, Tsunehiko Higuchi: Development and crystallographic evaluation of histone H3 peptide with N-terminal serine substitution as a potent inhibitor of lysine-specific demethylase 1. Bioorganic & Medicinal Chemistry. 2017.05; 25 (9): 2617-2624. ( DOI )

Nagano-Shoji M, Hamamoto Y, Mizuno Y, Yamada A, Kikuchi M, Shirouzu M, Umehara T, Yoshida M, Nishiyama M, Kosono S: Characterization of lysine acetylation of a phosphoenolpyruvate carboxylase involved in glutamate overproduction in Corynebacterium glutamicum. Molecular Microbiology. 2017.05;

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 )

Yuki Mochida, Horacio Cabral, Kazunori Kataoka: Polymeric micelles for targeted tumor therapy of platinum anticancer drugs. Expert Opinion on Drug Delivery. 2017.03; 14 (12): 1423-1438. ( 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 )

Ming Wang, Yutaka Miura, Kenji Tsuchihashi, Kazuki Miyano, Osamu Nagano, Momoko Yoshikawa, Ami Tanabe, Jun Makino, Yuki Mochida, Nobuhiro Nishiyama, Hideyuki Saya, Horacio Cabral, Kazunori Kataoka: Eradication of CD44-variant positive population in head and neck tumors through controlled intracellular navigation of cisplatin-loaded nanomedicines. Journal of Controlled Release. 2016.05; 230 26-33. ( 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 )

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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 )

Jun Makino, Horacio Cabral, Yutaka Miura, Yu Matsumoto, Ming Wang, Hiroaki Kinoh, Yuki Mochida, Nobuhiro Nishiyama, Kazunori Kataoka: cRGD-installed polymeric micelles loading platinum anticancer drugs enable cooperative treatment against lymph node metastasis. Journal of Controlled Release. 2015.12; 220 783-791. ( 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 )

Omer Faruk Mutaf, Akihiro Kishimura, Yuki Mochida, Ahram Kim, Kazunori Kataoka: Induction of Secondary Structure through Micellization of an Oppositely Charged Pair of Homochiral Block‐and Homopolypeptides in an Aqueous Medium. Macromolar Rapid Communications. 2015.11; 36 (22): 1958-1964. ( 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 )

S. Quader, H. Cabral, Y. Mochida, T. Ishii, X. Liu, K. Toh, H. Kinoh, Y. Miura, N. Nishiyama, K. Kataoka: Selective intracellular delivery of proteasome inhibitors through pH-sensitive polymeric micelles directed to efficient antitumor therapy. Journal of Controlled Release. 2014.08; 188 67-77. ( 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 )

Yuki Mochida, Horacio Cabral, Yutaka Miura, Francesco Albertini, Shigeto Fukushima, Kensuke Osada, Nobuhiro Nishiyama, Kazunori Kataoka: Bundled Assembly of Helical Nanostructures in Polymeric Micelles Loaded with Platinum Drugs Enhancing Therapeutic Efficiency against Pancreatic Tumor. ACS Nano. 2014.06; 8 (7): 6724-6738. ( 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. ( ichushi )

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 )

Masaki Kikuchi, Shinichiro Iwabuchi, Tatsuhiko Kikkou, Keiichi Noguchi, Masafumi Odaka, Masafumi Yohda, Masaaki Kawata, Chikara Sato, Osamu Matsumoto: Expression, purification, crystallization and preliminary crystallographic analysis of hepatitis B virus core protein dimerized via a peptide linker containing an EGFP insertion. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2013.08; 69 (Pt 8): 942-945. ( 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 )

Masaki Kikuchi, Shinichiro Iwabuchi, Tatsuhiko Kikkou, Keiichi Noguchi, Masafumi Odaka, Masafumi Yohda, Masaaki Kawata, Chikara Sato, Osamu Matsumoto: Expression, purification, crystallization and preliminary X-ray crystallographic studies of hepatitis B virus core fusion protein corresponding to octahedral particles. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2013.02; 69 (Pt 2): 165-169. ( 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 )

Kensuke Osada, Horacio Cabral, Yuki Mochida, Sangeun Lee, Kazuya Nagata, Tetsuya Matsuura, Megumi Yamamoto, Yasutaka Anraku, Akihiro Kishimura, Nobuhiro Nishiyama, Kazunori Kataoka: Bioactive Polymeric Metallosomes Self-Assembled through Block Copolymer–Metal Complexation. Journal of the American Chemical Society. 2012.08; 134 (32): 13172-13175. ( 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 )

Masahiro Kawahara, Yusuke Shimo, Azusa Hitomi, Yuki Mochida, Takahiro Sogo, Hiroshi Ueda, Teruyuki Nagamune: Fluorescein-responsive migration of mammalian cells equipped with an antibody/receptor chimera. Journal of Bioscience and Bioengineering. 2009.11; 108 S33. ( 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. ( ichushi )

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 )

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