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Page 1
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Among authors: morio t. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Clinical course of patients with WASP gene mutations.
Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, Yata J, Mizutani S, Ochs HD, Nonoyama S. Imai K, et al. Among authors: morio t. Blood. 2004 Jan 15;103(2):456-64. doi: 10.1182/blood-2003-05-1480. Epub 2003 Sep 11. Blood. 2004. PMID: 12969986 Free article.
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.
Takagi M, Shinoda K, Piao J, Mitsuiki N, Takagi M, Matsuda K, Muramatsu H, Doisaki S, Nagasawa M, Morio T, Kasahara Y, Koike K, Kojima S, Takao A, Mizutani S. Takagi M, et al. Among authors: morio t. Blood. 2011 Mar 10;117(10):2887-90. doi: 10.1182/blood-2010-08-301515. Epub 2010 Nov 9. Blood. 2011. PMID: 21063026 Free article.
Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia.
Kuramitsu M, Sato-Otsubo A, Morio T, Takagi M, Toki T, Terui K, Wang R, Kanno H, Ohga S, Ohara A, Kojima S, Kitoh T, Goi K, Kudo K, Matsubayashi T, Mizue N, Ozeki M, Masumi A, Momose H, Takizawa K, Mizukami T, Yamaguchi K, Ogawa S, Ito E, Hamaguchi I. Kuramitsu M, et al. Among authors: morio t. Blood. 2012 Mar 8;119(10):2376-84. doi: 10.1182/blood-2011-07-368662. Epub 2012 Jan 18. Blood. 2012. PMID: 22262766 Free article.
Endocrine complications in primary immunodeficiency diseases in Japan.
Nozaki T, Takada H, Ishimura M, Ihara K, Imai K, Morio T, Kobayashi M, Nonoyama S, Hara T. Nozaki T, et al. Among authors: morio t. Clin Endocrinol (Oxf). 2012 Oct;77(4):628-34. doi: 10.1111/j.1365-2265.2012.04390.x. Clin Endocrinol (Oxf). 2012. PMID: 22432851
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.
Mizoguchi Y, Tsumura M, Okada S, Hirata O, Minegishi S, Imai K, Hyakuna N, Muramatsu H, Kojima S, Ozaki Y, Imai T, Takeda S, Okazaki T, Ito T, Yasunaga S, Takihara Y, Bryant VL, Kong XF, Cypowyj S, Boisson-Dupuis S, Puel A, Casanova JL, Morio T, Kobayashi M. Mizoguchi Y, et al. Among authors: morio t. J Leukoc Biol. 2014 Apr;95(4):667-76. doi: 10.1189/jlb.0513250. Epub 2013 Dec 16. J Leukoc Biol. 2014. PMID: 24343863 Free PMC article.
BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.
Marciano BE, Huang CY, Joshi G, Rezaei N, Carvalho BC, Allwood Z, Ikinciogullari A, Reda SM, Gennery A, Thon V, Espinosa-Rosales F, Al-Herz W, Porras O, Shcherbina A, Szaflarska A, Kiliç Ş, Franco JL, Gómez Raccio AC, Roxo P Jr, Esteves I, Galal N, Grumach AS, Al-Tamemi S, Yildiran A, Orellana JC, Yamada M, Morio T, Liberatore D, Ohtsuka Y, Lau YL, Nishikomori R, Torres-Lozano C, Mazzucchelli JT, Vilela MM, Tavares FS, Cunha L, Pinto JA, Espinosa-Padilla SE, Hernandez-Nieto L, Elfeky RA, Ariga T, Toshio H, Dogu F, Cipe F, Formankova R, Nuñez-Nuñez ME, Bezrodnik L, Marques JG, Pereira MI, Listello V, Slatter MA, Nademi Z, Kowalczyk D, Fleisher TA, Davies G, Neven B, Rosenzweig SD. Marciano BE, et al. Among authors: morio t. J Allergy Clin Immunol. 2014 Apr;133(4):1134-41. doi: 10.1016/j.jaci.2014.02.028. J Allergy Clin Immunol. 2014. PMID: 24679470 Free PMC article.
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.
Yamazaki Y, Yamada M, Kawai T, Morio T, Onodera M, Ueki M, Watanabe N, Takada H, Takezaki S, Chida N, Kobayashi I, Ariga T. Yamazaki Y, et al. Among authors: morio t. J Immunol. 2014 Nov 15;193(10):4880-7. doi: 10.4049/jimmunol.1401467. Epub 2014 Oct 6. J Immunol. 2014. PMID: 25288569
505 results