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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
Boisson B, Honda Y, Ajiro M, Bustamante J, Bendavid M, Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh M, Bigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK, Casanova JL, Hagiwara M, Yasumi T. Boisson B, et al. Among authors: yasumi t. J Clin Invest. 2019 Feb 1;129(2):583-597. doi: 10.1172/JCI124011. Epub 2018 Dec 18. J Clin Invest. 2019. PMID: 30422821 Free PMC article.
Early hematopoietic cell transplantation for familial hemophagocytic lymphohistiocytosis in a regional treatment network in Japan.
Ishimura M, Eguchi K, Sonoda M, Tanaka T, Shiraishi A, Sakai Y, Yasumi T, Miyamoto T, Voskoboinik I, Hashimoto K, Matsumoto S, Ozono S, Moritake H, Takada H, Ohga S. Ishimura M, et al. Among authors: yasumi t. Int J Hematol. 2024 May;119(5):592-602. doi: 10.1007/s12185-024-03721-3. Epub 2024 Mar 20. Int J Hematol. 2024. PMID: 38507116
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survival.
Nishikomori R, Akutagawa H, Maruyama K, Nakata-Hizume M, Ohmori K, Mizuno K, Yachie A, Yasumi T, Kusunoki T, Heike T, Nakahata T. Nishikomori R, et al. Among authors: yasumi t. Blood. 2004 Jun 15;103(12):4565-72. doi: 10.1182/blood-2003-10-3655. Epub 2004 Jan 15. Blood. 2004. PMID: 14726382 Free article.
128 results