• 406 Citations
  • 11 h-Index
20042020

Research output per year

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Fingerprint Dive into the research topics where Matsuyuki Shirota is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 406 Citations
  • 11 h-Index
  • 38 Article
  • 2 Review article
  • 1 Chapter
  • 1 Comment/debate

Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome

Niitsuma, S., Kudo, H., Kikuchi, A., Hayashi, T., Kumakura, S., Kobayashi, S., Okuyama, Y., Kumagai, N., Niihori, T., Aoki, Y., So, T., Funayama, R., Nakayama, K., Shirota, M., Kondo, S., Kagami, S., Tsukaguchi, H., Iijima, K., Kure, S. & Ishii, N., 2020 Apr 1, In : International immunology. 32, 4, p. 283-292 10 p.

Research output: Contribution to journalArticle

  • Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia (Genetics in Medicine, (2019), 21, 6, (1286-1294), 10.1038/s41436-018-0340-x)

    Wada, Y., Kikuchi, A., Arai-Ichinoi, N., Sakamoto, O., Takezawa, Y., Iwasawa, S., Niihori, T., Nyuzuki, H., Nakajima, Y., Ogawa, E., Ishige, M., Hirai, H., Sasai, H., Fujiki, R., Shirota, M., Funayama, R., Yamamoto, M., Ito, T., Ohara, O., Nakayama, K. & 4 others, Aoki, Y., Koshiba, S., Fukao, T. & Kure, S., 2020 Jul 1, In : Genetics in Medicine. 22, 7, p. 1281 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
  • Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

    Wada, Y., Kikuchi, A., Kaga, A., Shimizu, N., Ito, J., Onuma, R., Fujishima, F., Totsune, E., Sato, R., Niihori, T., Shirota, M., Funayama, R., Sato, K., Nakazawa, T., Nakayama, K., Aoki, Y., Aiba, S., Nakagawa, K. & Kure, S., 2020, In : PLoS Genetics. 16, 2, e1008628.

    Research output: Contribution to journalArticle

    Open Access
  • Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis

    Masamune, A., Kotani, H., Sörgel, F. L., Chen, J. M., Hamada, S., Sakaguchi, R., Masson, E., Nakano, E., Kakuta, Y., Niihori, T., Funayama, R., Shirota, M., Hirano, T., Kawamoto, T., Hosokoshi, A., Kume, K., Unger, L., Ewers, M., Laumen, H., Bugert, P. & 25 others, Mori, M. X., Tsvilovskyy, V., Weißgerber, P., Kriebs, U., Fecher-Trost, C., Freichel, M., Diakopoulos, K. N., Berninger, A., Lesina, M., Ishii, K., Itoi, T., Ikeura, T., Okazaki, K., Kaune, T., Rosendahl, J., Nagasaki, M., Uezono, Y., Algül, H., Nakayama, K., Matsubara, Y., Aoki, Y., Férec, C., Mori, Y., Witt, H. & Shimosegawa, T., 2020 May, In : Gastroenterology. 158, 6, p. 1626-1641.e8

    Research output: Contribution to journalArticle

    Open Access
  • 5 Citations (Scopus)

    Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons

    Akiyama, T., Suzuki, N., Ishikawa, M., Fujimori, K., Sone, T., Kawada, J., Funayama, R., Fujishima, F., Mitsuzawa, S., Ikeda, K., Ono, H., Shijo, T., Osana, S., Shirota, M., Nakagawa, T., Kitajima, Y., Nishiyama, A., Izumi, R., Morimoto, S., Okada, Y. & 11 others, Kamei, T., Nishida, M., Nogami, M., Kaneda, S., Ikeuchi, Y., Mitsuhashi, H., Nakayama, K., Fujii, T., Warita, H., Okano, H. & Aoki, M., 2019 Jul, In : EBioMedicine. 45, p. 362-378 17 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Citations (Scopus)