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101 results

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Page 1
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: saito mk. Blood. 2023 Feb 9;141(6):645-658. doi: 10.1182/blood.2022016783. Blood. 2023. PMID: 36223592 Free PMC article.
Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency.
Kawai T, Nishikomori R, Izawa K, Murata Y, Tanaka N, Sakai H, Saito M, Yasumi T, Takaoka Y, Nakahata T, Mizukami T, Nunoi H, Kiyohara Y, Yoden A, Murata T, Sasaki S, Ito E, Akutagawa H, Kawai T, Imai C, Okada S, Kobayashi M, Heike T. Kawai T, et al. Blood. 2012 Jun 7;119(23):5458-66. doi: 10.1182/blood-2011-05-354167. Epub 2012 Apr 19. Blood. 2012. PMID: 22517901 Free article.
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. 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.
Induced pluripotent stem cells from CINCA syndrome patients as a model for dissecting somatic mosaicism and drug discovery.
Tanaka T, Takahashi K, Yamane M, Tomida S, Nakamura S, Oshima K, Niwa A, Nishikomori R, Kambe N, Hara H, Mitsuyama M, Morone N, Heuser JE, Yamamoto T, Watanabe A, Sato-Otsubo A, Ogawa S, Asaka I, Heike T, Yamanaka S, Nakahata T, Saito MK. Tanaka T, et al. Among authors: saito mk. Blood. 2012 Aug 9;120(6):1299-308. doi: 10.1182/blood-2012-03-417881. Epub 2012 Jun 21. Blood. 2012. PMID: 22723549 Free article.
Genetic correction of HAX1 in induced pluripotent stem cells from a patient with severe congenital neutropenia improves defective granulopoiesis.
Morishima T, Watanabe K, Niwa A, Hirai H, Saida S, Tanaka T, Kato I, Umeda K, Hiramatsu H, Saito MK, Matsubara K, Adachi S, Kobayashi M, Nakahata T, Heike T. Morishima T, et al. Among authors: saito mk. Haematologica. 2014 Jan;99(1):19-27. doi: 10.3324/haematol.2013.083873. Epub 2013 Aug 23. Haematologica. 2014. PMID: 23975175 Free PMC article.
Hypoxic adaptation of leukemic cells infiltrating the CNS affords a therapeutic strategy targeting VEGFA.
Kato I, Nishinaka Y, Nakamura M, Akarca AU, Niwa A, Ozawa H, Yoshida K, Mori M, Wang D, Morita M, Ueno H, Shiozawa Y, Shiraishi Y, Miyano S, Gupta R, Umeda K, Watanabe K, Koh K, Adachi S, Heike T, Saito MK, Sanada M, Ogawa S, Marafioti T, Watanabe A, Nakahata T, Enver T. Kato I, et al. Among authors: saito mk. Blood. 2017 Jun 8;129(23):3126-3129. doi: 10.1182/blood-2016-06-721712. Epub 2017 Apr 19. Blood. 2017. PMID: 28424164 Free PMC article. No abstract available.
101 results