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論文2019年

  1. Yu, Y., Nakagawa, T., Morohoshi, A., Nakagawa, M., Ishida, N., Suzuki, N., Aoki, M., Nakayama, K. Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity. Hum Mol Genet 28, 3486-3497 (2019)
  2. Nakagawa, T., Nakayama, K., Nakayam, KI. Knockout Mouse Models Provide Insight into the Biological Functions of CRL1 Components. Adv Exp Med Biol 1217, 147-171 (2020)
  3. Sato, Matsumoto, M., Saiki, Y., Ala, M., Nishizawa, H., Rokugo, M., Brydun, A., Yamada, S., Kaneko, MK., Funayama, R., Ito, M., Kato, Y., Nakayama, K., Unno, M., Igarash, K. BACH1 Promotes Pancreatic Cancer Metastasis by Repressing Epithelial Genes and Enhancing Epithelial-Mesenchymal Transition. Cancer Res 80,1279-1292 (2020)
  4. Masamune, Kotani, H., Sorgel, FL, Chen, JM., 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., Mori, MX., Tsvilovskyy, V., Weisgerber, P., Kriebs, U., Fecher-Trost, C., Freichel, M., Diakopoulos, KN., Berninger, A., Lesina, M., Ishii, K., Itoi, T., Ikeura, T., Okazaki, K., Kaune, T., Rosendahl ,J., Nagasaki, M., Uezono, Y., Algul, H., Nakayama, K., Matsubara, Y., Aoki ,Y., Ferec, C., Mori, Y., Witt, H., Shimosegawa, T. Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-onset Chronic Pancreatitis. Gastroenterology158, 1626-1641
  5. Hozawa, A., Tanno, K., Nakaya, N., Nakamura, T., Tsuchiya, N., Hirata, T., Narita, A., Kogure, M., Nochioka, K., Sasaki, R., Takanashi, N., Otsuka, K., Sakata, K., Kuriyama, S., Kikuya, M., Tanabe, O., Sugawara, J., Suzuki, K., Suzuki, Y., Kodama, EN., Fuse, N., Kiyomoto, H., Tomita, H., Urun, A., Hamanaka, Y., Metoki, H., Ishikuro, M., Obara, T., Kobayashi, T., Kitatani, K., Takai-Igarashi, T., Ogishima, S., Satoh, M., Ohmomo, H., Tsuboi, A., Egawa, S., Ishii, T., Ito, K., Ito, S., Taki, Y., Minegishi, N., Ishii, N., Nagasaki, M., Igarashi, K., Koshiba, S., Shimizu, R., Tamiya, G., Nakayama, K., Motohashi, H., Yasuda, J., Shimizu, A., Hachiya, T., Shiwa, Y., Tominaga, T., Tanaka, H., Oyama, K., Tanaka, R., Kawame, H., Fukushima, A., Ishigaki, Y., Tokutomi, T., Osumi ,N., Kobayashi, T., Nagami, F., Hashizume, H., Arai, T., Kawaguchi, Y., Higuchi, S., Sakaida, M., Endo, R., Nishizuka, S., Tsuji, I., Hitomi, J., Nakamura, M., Ogasawara, K., Yaegashi, N., Kinoshita, K., Kure, S., Sakai, A., Kobayashi, S., Sobue, K., Sasaki, M., Yamamoto, M. Study profile of The Tohoku Medical Megabank Community-Based Cohort Study. J Epidemiol [Epub ahead of print]( 2019)
  6. 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. Biallelic variants/mutations of IL1RAP in patients with steroid-sensitive nephrotic syndrome. Int Immunol 32,283-292.(2020)
  7. 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. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice. PLoS Genet 16 e1008628 (2020)
  8. Aizawa, T., Karasawa, H., Funayama, R., Shirota, M., Suzuki, T., Maeda, S., Suzuki, H., Yamamura ,A., Naitoh, T., Nakayama, K., Unno, M. Cancer-associated fibroblasts secrete Wnt2 to promote cancer progression in colorectal cancer. Cancer Med 8, 6370-6382 (2019)
  9. Kuriyama, S., Metoki, H., Kikuya ,M., Obara, T., Ishikuro, M., Yamanaka, C., Nagai, M., Matsubara, H., Kobayashi, T., Sugawara, J., Tamiya, G., Hozawa, A., Nakaya, N., Tsuchiya, N., Nakamura, T., Narita, A., Kogure, M., Hirata, T., Tsuji, I., Nagami, F., Fuse, N., Arai, T., Kawaguchi, Y., Higuchi, S., Sakaida, M., Suzuki, Y., Osumi, N., Nakayama, K., Ito, K., Egawa, S., Chida ,K., Kodama, E., Kiyomoto, H., Ishii, T., Tsuboi, A., Tomita, H., Taki, Y., Kawame, H., Suzuki, K., Ishii, N., Ogishima, S., Mizuno, S., Takai-Igarashi, T., Minegishi, N., Yasuda, J., Igarashi, K., Shimizu, R., Nagasaki, M., Tanabe, O., Koshiba, S., Hashizume, H., Motohashi, H., Tominaga, T., Ito, S., Tanno, K., Sakata, K., Shimizu, A., Hitomi ,J., Sasaki, M., Kinoshita, K., Tanaka, H., Kobayashi, T., Kure, S., Yaegashi, N., Yamamoto, M. Tohoku Medical Megabank Project Study Group. Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): Rationale, Progress and Perspective. Int J Epidemiol [Epub ahead of print](2019)
  10. Ozeki ,M., Aoki, Y., Nozawa, A., Yasue, S., Endo, S., Hori, Y., Matsuoka, K., Niihori, T., Funayama ,R., Shirota, M., Nakayama, K., Fukao, T. Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. Orphanet J Rare Dis 14, 215 (2019)
  11. Niihori, T., Nagai, K., Fujita, A., Ohashi, H., Okamoto, N., Okada, S., Harada, A., Kihara ,H., Arbogast, T., Funayama, R., Shirota, M., Nakayama, K., Abe, T., Inoue ,SI., Tsai IC, Matsumoto, N., Davis EE, Katsanis, N., Aoki, Y. Germline-Activating RRAS2 Mutations Cause Noonan Syndrome. Am J Hum Genet 104, 1233-1240 (2019)
  12. 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., Kamei, T., Nishida, M., Nogami, M., Kaneda, S., Ikeuchi, Y., Mitsuhashi, H., Nakayama, K., Fujii, T., Warita, H., Okano, H., Aoki, M. Aberrant axon branching via Fos-B dysregulation in FUS-ALS motor neurons. EBioMedicine 45, 362-378 (2019)
  13. Iwasawa, S., Yanagi; K., Kikuchi, A., Kobayashi ,Y., Haginoya, K., Matsumoto, H., Kurosawa, K., Ochiai, M., Sakai ,Y., Fujita, A., Miyake, N., Niihori, T., Shirota, M., Funayama ,R., Nonoyama, S., Ohga, S., Kawame, H., Nakayama, K., Aoki, Y., Matsumoto, N., Kaname, T., Matsubara, Y., Shoji ,W., Kure, S. Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Ann Neurol.85, 927-933 ( 2019)