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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: iwai k. 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.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: iwai k. Nat Immunol. 2024 Apr 12. doi: 10.1038/s41590-024-01817-w. Online ahead of print. Nat Immunol. 2024. PMID: 38609546
Polygenic effects on the risk of Alzheimer's disease in the Japanese population.
Kikuchi M, Miyashita A, Hara N, Kasuga K, Saito Y, Murayama S, Kakita A, Akatsu H, Ozaki K, Niida S, Kuwano R, Iwatsubo T, Nakaya A, Ikeuchi T; Alzheimer’s Disease Neuroimaging Initiative; Japanese Alzheimer’s Disease Neuroimaging Initiative. Kikuchi M, et al. Alzheimers Res Ther. 2024 Feb 27;16(1):45. doi: 10.1186/s13195-024-01414-x. Alzheimers Res Ther. 2024. PMID: 38414085 Free PMC article.
1,072 results