Department of Genomic Function and Diversity

180  articles.  
* There may be some overlapped articles listed due to the difference of format.

  1. Okunishi K, Kochi Y, Zhao M, Wang H, Nakagome K, Izumi T: Munc13-4 regulates asthma and obesity in mice by controlling functions of CD11c(+) antigen-presenting cells. Allergy. 2024.03; ( PubMed , DOI )

  2. Fuseya Y, Kadoba K, Liu X, Suetsugu H, Iwasaki T, Ohmura K, Sumida T, Kochi Y, Morinobu A, Terao C, Iwai K: Attenuation of HOIL-1L ligase activity promotes systemic autoimmune disorders by augmenting linear ubiquitin signaling. JCI insight. 2024.02; 9 (3): ( PubMed , DOI )

  1. Shichen Chang, Satoru Torii, Jun Inamo, Kinya Ishikawa, Yuta Kochi, Shigeomi Shimizu: Uncovering the Localization and Function of a Novel Read-Through Transcript ' TOMM40-APOE' Cells. 2023.12; 13 (1): ( PubMed , DOI )

  2. 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 )

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

  4. 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 )

  5. 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 )

  6. 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 )

  1. Ishigaki K, Sakaue S, Terao C, Luo Y, Sonehara K, Yamaguchi K, Amariuta T, Too CL, Laufer VA, Scott IC, Viatte S, Takahashi M, Ohmura K, Murasawa A, Hashimoto M, Ito H, Hammoudeh M, Emadi SA, Masri BK, Halabi H, Badsha H, Uthman IW, Wu X, Lin L, Li T, Plant D, Barton A, Orozco G, Verstappen SMM, Bowes J, MacGregor AJ, Honda S, Koido M, Tomizuka K, Kamatani Y, Tanaka H, Tanaka E, Suzuki A, Maeda Y, Yamamoto K, Miyawaki S, Xie G, Zhang J, Amos CI, Keystone E, Wolbink G, van der Horst-Bruinsma I, Cui J, Liao KP, Carroll RJ, Lee HS, Bang SY, Siminovitch KA, de Vries N, Alfredsson L, Rantapää-Dahlqvist S, Karlson EW, Bae SC, Kimberly RP, Edberg JC, Mariette X, Huizinga T, Dieudé P, Schneider M, Kerick M, Denny JC, BioBank Japan Project, Matsuda K, Matsuo K, Mimori T, Matsuda F, Fujio K, Tanaka Y, Kumanogoh A, Traylor M, Lewis CM, Eyre S, Xu H, Saxena R, Arayssi T, Kochi Y, Ikari K, Harigai M, Gregersen PK, Yamamoto K, Louis Bridges S Jr, Padyukov L, Martin J, Klareskog L, Okada Y, Raychaudhuri S: Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis. Nature genetics. 2022.11; 54 (11): 1640-1651. ( PubMed , DOI )

  2. Yamaguchi K, Ishigaki K, Suzuki A, Tsuchida Y, Tsuchiya H, Sumitomo S, Nagafuchi Y, Miya F, Tsunoda T, Shoda H, Fujio K, Yamamoto K, Kochi Y: Splicing QTL analysis focusing on coding sequences reveals mechanisms for disease susceptibility loci. Nature communications. 2022.08; 13 (1): 4659. ( PubMed , DOI )

  3. Kato D, Mitsuhashi S, Miya F, Saitoh S, Okamoto N, Tsunoda T, Kochi Y: Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases. Journal of human genetics. 2022.08; 67 (12): 739-742. ( PubMed , DOI )

  4. Scofield RH, Lewis VM, Cavitt J, Kurien BT, Assassi S, Martin J, Gorlova O, Gregersen P, Lee A, Rider LG, O'Hanlon T, Rothwell S, Lilleker J, Myositis Genetics Consortium, Xiaoxi Liu., Kochi Y, Terao C, Igoe A, Stevens W, Sahhar J, Roddy J, Rischmueller M, Lester S, Proudman S, Chen S, Brown MA, Mayes MD, Lamb JA, Miller FW: 47XXY and 47XXX in Scleroderma and Myositis. ACR open rheumatology. 2022.06; 4 (6): 528-533. ( PubMed , DOI )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  1. 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 )

  2. Otomo N, Lu HF, Koido M, Kou I, Takeda K, Momozawa Y, Kubo M, Kamatani Y, Ogura Y, Takahashi Y, Nakajima M, Minami S, Uno K, Kawakami N, Ito M, Sato T, Watanabe K, Kaito T, Yanagida H, Taneichi H, Harimaya K, Taniguchi Y, Shigematsu H, Iida T, Demura S, Sugawara R, Fujita N, Yagi M, Okada E, Hosogane N, Kono K, Nakamura M, Chiba K, Kotani T, Sakuma T, Akazawa T, Suzuki T, Nishida K, Kakutani K, Tsuji T, Sudo H, Iwata A, Kaneko K, Inami S, Kochi Y, Chang WC, Matsumoto M, Watanabe K, Ikegawa S, Terao C: Polygenic Risk Score of Adolescent Idiopathic Scoliosis for Potential Clinical Use. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2021.08; 36 (8): 1481-1491. ( PubMed , DOI )

  3. Ohori S, Tsuburaya RS, Kinoshita M, Miyagi E, Mizuguchi T, Mitsuhashi S, Frith MC, Matsumoto N: Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorder. Journal of human genetics. 2021.07; 66 (7): 697-705. ( PubMed , DOI )

  4. 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 )

  5. Tsuji H, Ohmura K, Jin H, Naito R, Arase N, Kohyama M, Suenaga T, Sakakibara S, Kochi Y, Okada Y, Yamamoto K, Kikutani H, Morinobu A, Mimori T, Arase H: Anti-dsDNA antibodies recognize DNA presented on HLA class II molecules of systemic lupus erythematosus risk alleles. Arthritis & rheumatology (Hoboken, N.J.). 2021.06; 74 (1): 105-111. ( PubMed , DOI )

  6. 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 )

  7. 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 )

  8. Ota M, Nagafuchi Y, Hatano H, Ishigaki K, Terao C, Takeshima Y, Yanaoka H, Kobayashi S, Okubo M, Shirai H, Sugimori Y, Maeda J, Nakano M, Yamada S, Yoshida R, Tsuchiya H, Tsuchida Y, Akizuki S, Yoshifuji H, Ohmura K, Mimori T, Yoshida K, Kurosaka D, Okada M, Setoguchi K, Kaneko H, Ban N, Yabuki N, Matsuki K, Mutoh H, Oyama S, Okazaki M, Tsunoda H, Iwasaki Y, Sumitomo S, Shoda H, Kochi Y, Okada Y, Yamamoto K, Okamura T, Fujio K: Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases. Cell. 2021.05; 184 (11): 3006-3021.e17. ( PubMed , DOI )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. Otomo A, Ueda MT, Fujie T, Hasebe A, Suematsu Y, Okamura Y, Takeoka S, Hadano S, Nakagawa S: Efficient differentiation and polarization of primary cultured neurons on poly(lactic acid) scaffolds with microgrooved structures. Scientific reports. 2020.04; 10 (1): 6716. ( PubMed , DOI )

  22. 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 )

  23. 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 )

  24. 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 )

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

  26. 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 )

  27. 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 )

  28. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. 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 )

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  32. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  20. 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 )

  21. 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 )

  22. 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 )

  23. 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 )

  24. 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 )

  25. 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 )

  26. A naturally occurring feline APOBEC3 variant that loses anti-lentiviral activity by lacking two amino acid residues Journal of General Virology. 2018; 99 704-709.

  27. 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 )

  28. 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 )

  29. 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 )

  30. 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 )

  31. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

  10. 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 )

  11. 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 )

  12. 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 )

  13. 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 )

  14. 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 )

  15. 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 )

  16. 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 )

  17. 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 )

  18. 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 )

  19. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  7. 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 )

  8. 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 )

  9. 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 )

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

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  6. 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 )

  1. 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 )

  2. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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.

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

  2. 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 )

  3. 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 )

  4. 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 )

  5. 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;

  1. 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 )

  1. 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 )

  2. 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 )

  3. 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 )

  4. 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 )

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