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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. Niitsuma S, et al. Among authors: funayama r. Int Immunol. 2020 Apr 12;32(4):283-292. doi: 10.1093/intimm/dxz081. Int Immunol. 2020. PMID: 31954058
Runx1 deficiency in CD4+ T cells causes fatal autoimmune inflammatory lung disease due to spontaneous hyperactivation of cells.
Wong WF, Kohu K, Nakamura A, Ebina M, Kikuchi T, Tazawa R, Tanaka K, Kon S, Funaki T, Sugahara-Tobinai A, Looi CY, Endo S, Funayama R, Kurokawa M, Habu S, Ishii N, Fukumoto M, Nakata K, Takai T, Satake M. Wong WF, et al. Among authors: funayama r. J Immunol. 2012 Jun 1;188(11):5408-20. doi: 10.4049/jimmunol.1102991. Epub 2012 May 2. J Immunol. 2012. PMID: 22551552
Y chromosome-linked B and NK cell deficiency in mice.
Sun SL, Horino S, Itoh-Nakadai A, Kawabe T, Asao A, Takahashi T, So T, Funayama R, Kondo M, Saitsu H, Matsumoto N, Nakayama K, Ishii N. Sun SL, et al. Among authors: funayama r. J Immunol. 2013 Jun 15;190(12):6209-20. doi: 10.4049/jimmunol.1300303. Epub 2013 May 20. J Immunol. 2013. PMID: 23690476
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Aoki Y, et al. Among authors: funayama r. Am J Hum Genet. 2013 Jul 11;93(1):173-80. doi: 10.1016/j.ajhg.2013.05.021. Epub 2013 Jun 20. Am J Hum Genet. 2013. PMID: 23791108 Free PMC article.
Identification of acquired mutations by whole-genome sequencing in GATA-2 deficiency evolving into myelodysplasia and acute leukemia.
Fujiwara T, Fukuhara N, Funayama R, Nariai N, Kamata M, Nagashima T, Kojima K, Onishi Y, Sasahara Y, Ishizawa K, Nagasaki M, Nakayama K, Harigae H. Fujiwara T, et al. Among authors: funayama r. Ann Hematol. 2014 Sep;93(9):1515-22. doi: 10.1007/s00277-014-2090-4. Epub 2014 Apr 30. Ann Hematol. 2014. PMID: 24782121 Free PMC article.
85 results