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Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Łyszkiewicz M, Ziȩtara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maier-Begandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, Saito MK, Rusha E, Alizadeh Z, Pourpak Z, Kobayashi M, Rezaei N, Unal E, Hauck F, Drukker M, Walzog B, Rappsilber J, Zimmer R, Lieschke GJ, Klein C. Linder MI, et al. Among authors: mizoguchi y. Blood. 2023 Feb 9;141(6):645-658. doi: 10.1182/blood.2022016783. Blood. 2023. PMID: 36223592 Free PMC article.
Mammalian VPS45 orchestrates trafficking through the endosomal system.
Frey L, Ziętara N, Łyszkiewicz M, Marquardt B, Mizoguchi Y, Linder MI, Liu Y, Giesert F, Wurst W, Dahlhoff M, Schneider MR, Wolf E, Somech R, Klein C. Frey L, et al. Among authors: mizoguchi y. Blood. 2021 Apr 8;137(14):1932-1944. doi: 10.1182/blood.2020006871. Blood. 2021. PMID: 33512427 Free article.
Deficiency of regulatory T cells in children with autoimmune neutropenia.
Nakamura K, Miki M, Mizoguchi Y, Karakawa S, Sato T, Kobayashi M. Nakamura K, et al. Among authors: mizoguchi y. Br J Haematol. 2009 Jun;145(5):642-7. doi: 10.1111/j.1365-2141.2009.07662.x. Epub 2009 Mar 26. Br J Haematol. 2009. PMID: 19344427 Free article.
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. 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.
Decreased expression in nuclear factor-κB essential modulator due to a novel splice-site mutation causes X-linked ectodermal dysplasia with immunodeficiency.
Karakawa S, Okada S, Tsumura M, Mizoguchi Y, Ohno N, Yasunaga S, Ohtsubo M, Kawai T, Nishikomori R, Sakaguchi T, Takihara Y, Kobayashi M. Karakawa S, et al. Among authors: mizoguchi y. J Clin Immunol. 2011 Oct;31(5):762-72. doi: 10.1007/s10875-011-9560-4. Epub 2011 Jul 1. J Clin Immunol. 2011. PMID: 21720903
560 results