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A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K. Takeda Y, et al. Among authors: ueki m. J Exp Med. 2024 Jun 3;221(6):e20231941. doi: 10.1084/jem.20231941. Epub 2024 Apr 23. J Exp Med. 2024. PMID: 38652464 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: ueki m. J Immunol. 2014 Nov 15;193(10):4880-7. doi: 10.4049/jimmunol.1401467. Epub 2014 Oct 6. J Immunol. 2014. PMID: 25288569
Tacrolimus in combination with methotrexate and corticosteroid for the treatment of child-onset anti-signal recognition particle antibody-positive necrotizing myopathy.
Kobayashi I, Tozawa Y, Ueki M, Takezaki S, Watanabe S, Iwafuchi H, Yamada M, Kuwana M, Ariga T. Kobayashi I, et al. Among authors: ueki m. Scand J Rheumatol. 2017 Sep;46(5):409-410. doi: 10.1080/03009742.2016.1241297. Epub 2016 Nov 29. Scand J Rheumatol. 2017. PMID: 27897449 No abstract available.
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T. Cho K, et al. Among authors: ueki m. Am J Hum Genet. 2018 Mar 1;102(3):480-486. doi: 10.1016/j.ajhg.2018.01.019. Epub 2018 Feb 15. Am J Hum Genet. 2018. PMID: 29455859 Free PMC article.
598 results