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Page 1
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Donovan FX, Solanki A, Mori M, Chavan N, George M, C SK, Okuno Y, Muramastsu H, Yoshida K, Shimamoto A, Takaori-Kondo A, Yabe H, Ogawa S, Kojima S, Yabe M, Ramanagoudr-Bhojappa R, Smogorzewska A, Mohan S, Rajendran A, Auerbach AD, Takata M, Chandrasekharappa SC, Vundinti BR. Donovan FX, et al. Among authors: okuno y. Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31513304 Free PMC article.
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S, Okuno Y, Yoshida K, Shiraishi Y, Sanada M, Muramatsu H, Chiba K, Tanaka H, Miyazaki K, Sakai M, Ohtake M, Kobayashi R, Iguchi A, Niimi G, Otsu M, Takahashi Y, Miyano S, Saito H, Kojima S, Ogawa S. Kunishima S, et al. Among authors: okuno y. Am J Hum Genet. 2013 Mar 7;92(3):431-8. doi: 10.1016/j.ajhg.2013.01.015. Epub 2013 Feb 21. Am J Hum Genet. 2013. PMID: 23434115 Free PMC article.
Clonal selection in xenografted TAM recapitulates the evolutionary process of myeloid leukemia in Down syndrome.
Saida S, Watanabe K, Sato-Otsubo A, Terui K, Yoshida K, Okuno Y, Toki T, Wang R, Shiraishi Y, Miyano S, Kato I, Morishima T, Fujino H, Umeda K, Hiramatsu H, Adachi S, Ito E, Ogawa S, Ito M, Nakahata T, Heike T. Saida S, et al. Among authors: okuno y. Blood. 2013 May 23;121(21):4377-87. doi: 10.1182/blood-2012-12-474387. Epub 2013 Mar 12. Blood. 2013. PMID: 23482930 Free article.
Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
Sakaguchi H, Okuno Y, Muramatsu H, Yoshida K, Shiraishi Y, Takahashi M, Kon A, Sanada M, Chiba K, Tanaka H, Makishima H, Wang X, Xu Y, Doisaki S, Hama A, Nakanishi K, Takahashi Y, Yoshida N, Maciejewski JP, Miyano S, Ogawa S, Kojima S. Sakaguchi H, et al. Among authors: okuno y. Nat Genet. 2013 Aug;45(8):937-41. doi: 10.1038/ng.2698. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832011
The landscape of somatic mutations in Down syndrome-related myeloid disorders.
Yoshida K, Toki T, Okuno Y, Kanezaki R, Shiraishi Y, Sato-Otsubo A, Sanada M, Park MJ, Terui K, Suzuki H, Kon A, Nagata Y, Sato Y, Wang R, Shiba N, Chiba K, Tanaka H, Hama A, Muramatsu H, Hasegawa D, Nakamura K, Kanegane H, Tsukamoto K, Adachi S, Kawakami K, Kato K, Nishimura R, Izraeli S, Hayashi Y, Miyano S, Kojima S, Ito E, Ogawa S. Yoshida K, et al. Among authors: okuno y. Nat Genet. 2013 Nov;45(11):1293-9. doi: 10.1038/ng.2759. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056718
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.
Hasegawa S, Imai K, Yoshida K, Okuno Y, Muramatsu H, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Kojima S, Ogawa S, Morio T, Mizutani S, Takagi M. Hasegawa S, et al. Among authors: okuno y. J Neurol Sci. 2014 May 15;340(1-2):86-90. doi: 10.1016/j.jns.2014.02.033. Epub 2014 Mar 4. J Neurol Sci. 2014. PMID: 24631270
Biallelic DICER1 mutations in sporadic pleuropulmonary blastoma.
Seki M, Yoshida K, Shiraishi Y, Shimamura T, Sato Y, Nishimura R, Okuno Y, Chiba K, Tanaka H, Kato K, Kato M, Hanada R, Nomura Y, Park MJ, Ishida T, Oka A, Igarashi T, Miyano S, Hayashi Y, Ogawa S, Takita J. Seki M, et al. Among authors: okuno y. Cancer Res. 2014 May 15;74(10):2742-9. doi: 10.1158/0008-5472.CAN-13-2470. Epub 2014 Mar 27. Cancer Res. 2014. PMID: 24675358
Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E. Wang R, et al. Among authors: okuno y. Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25. Br J Haematol. 2015. PMID: 25424902 Free article.
1,286 results