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Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity.
Moriya K, Nakano T, Honda Y, Tsumura M, Ogishi M, Sonoda M, Nishitani-Isa M, Uchida T, Hbibi M, Mizoguchi Y, Ishimura M, Izawa K, Asano T, Kakuta F, Abukawa D, Rinchai D, Zhang P, Kambe N, Bousfiha A, Yasumi T, Boisson B, Puel A, Casanova JL, Nishikomori R, Ohga S, Okada S, Sasahara Y, Kure S. Moriya K, et al. Among authors: uchida t. J Exp Med. 2023 Sep 4;220(9):e20212276. doi: 10.1084/jem.20212276. Epub 2023 Jun 5. J Exp Med. 2023. PMID: 37273177 Free PMC article.
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.
Nishitani-Isa M, Mukai K, Honda Y, Nihira H, Tanaka T, Shibata H, Kodama K, Hiejima E, Izawa K, Kawasaki Y, Osawa M, Katata Y, Onodera S, Watanabe T, Uchida T, Kure S, Takita J, Ohara O, Saito MK, Nishikomori R, Taguchi T, Sasahara Y, Yasumi T. Nishitani-Isa M, et al. Among authors: uchida t. J Exp Med. 2022 Jun 6;219(6):e20211889. doi: 10.1084/jem.20211889. Epub 2022 Apr 28. J Exp Med. 2022. PMID: 35482294 Free PMC article.
Neutrophilic dermatosis associated with an NFKB2 mutation.
Okamura K, Uchida T, Hayashi M, Yaguchi Y, Hemmi A, Murata I, Ichikawa K, Koyama S, Onoda T, Sasahara Y, Suzuki T. Okamura K, et al. Among authors: uchida t. Clin Exp Dermatol. 2019 Apr;44(3):350-352. doi: 10.1111/ced.13784. Epub 2018 Sep 28. Clin Exp Dermatol. 2019. PMID: 30267444 No abstract available.
3,591 results