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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: kambe n. 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.
[Familial Mediterranean fever: MEFV gene mutations and treatment].
Saito M, Nishikomori R, Kambe N. Saito M, et al. Among authors: kambe n. Nihon Rinsho Meneki Gakkai Kaishi. 2007 Apr;30(2):78-85. doi: 10.2177/jsci.30.78. Nihon Rinsho Meneki Gakkai Kaishi. 2007. PMID: 17473509 Free article. Review. Japanese.
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, Takeichi K, Imagawa T, Iehara T, Takada H, Matsubayashi T, Tanaka H, Kawashima H, Kawakami K, Kagami S, Okafuji I, Yoshioka T, Adachi S, Heike T, Miyachi Y, Nakahata T. Saito M, et al. Among authors: kambe n. Blood. 2008 Feb 15;111(4):2132-41. doi: 10.1182/blood-2007-06-094201. Epub 2007 Dec 6. Blood. 2008. PMID: 18063752 Free article.
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Among authors: kambe n. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
267 results