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Page 1
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E, Yamamoto KS, Ogura H, Aoki T, Utsugisawa T, Azuma K, Akagawa H, Watanabe K, Muraoka M, Nakamura F, Kamei M, Tatebayashi K, Shinozuka J, Yamane T, Hibino M, Katsura Y, Nakano-Akamatsu S, Kadowaki N, Maru Y, Ito E, Ohga S, Yagasaki H, Morioka I, Yamamoto T, Kanno H. Nakahara E, et al. Among authors: kanno h. Hum Genome Var. 2023 Mar 2;10(1):8. doi: 10.1038/s41439-023-00235-y. Hum Genome Var. 2023. PMID: 36864026 Free PMC article.
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: kanno h. 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.
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan.
Ikeda F, Toki T, Kanezaki R, Terui K, Yoshida K, Kanno H, Ohga S, Ohara A, Kojima S, Ogawa S, Ito E. Ikeda F, et al. Among authors: kanno h. Int J Hematol. 2016 Jan;103(1):112-4. doi: 10.1007/s12185-015-1891-0. Epub 2015 Nov 25. Int J Hematol. 2016. PMID: 26608366 No abstract available.
Erythrocyte glutathione is a novel biomarker of Diamond-Blackfan anemia.
Utsugisawa T, Uchiyama T, Toki T, Ogura H, Aoki T, Hamaguchi I, Ishiguro A, Ohara A, Kojima S, Ohga S, Ito E, Kanno H. Utsugisawa T, et al. Among authors: kanno h. Blood Cells Mol Dis. 2016 Jul;59:31-6. doi: 10.1016/j.bcmd.2016.03.007. Epub 2016 Apr 11. Blood Cells Mol Dis. 2016. PMID: 27282564
886 results