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The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: shimamura a. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway.
Soulier J, Leblanc T, Larghero J, Dastot H, Shimamura A, Guardiola P, Esperou H, Ferry C, Jubert C, Feugeas JP, Henri A, Toubert A, Socié G, Baruchel A, Sigaux F, D'Andrea AD, Gluckman E. Soulier J, et al. Among authors: shimamura a. Blood. 2005 Feb 1;105(3):1329-36. doi: 10.1182/blood-2004-05-1852. Epub 2004 Sep 21. Blood. 2005. PMID: 15383454 Free article.
SBDS protein expression patterns in the bone marrow.
Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH. Wong TE, et al. Among authors: shimamura a. Pediatr Blood Cancer. 2010 Sep;55(3):546-9. doi: 10.1002/pbc.22573. Pediatr Blood Cancer. 2010. PMID: 20658628 Free PMC article.
Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin.
Seo A, Ben-Harosh M, Sirin M, Stein J, Dgany O, Kaplelushnik J, Hoenig M, Pannicke U, Lorenz M, Schwarz K, Stockklausner C, Walsh T, Gulsuner S, Lee MK, Sendamarai A, Sanchez-Bonilla M, King MC, Cario H, Kulozik AE, Debatin KM, Schulz A, Tamary H, Shimamura A. Seo A, et al. Among authors: shimamura a. Blood. 2017 Aug 17;130(7):875-880. doi: 10.1182/blood-2017-02-768036. Epub 2017 May 30. Blood. 2017. PMID: 28559357 Free PMC article.
Pregnancy outcomes in inherited bone marrow failure syndromes.
Gansner JM, Achebe MM, Gray KJ, Yefidoff-Freedman R, Labovitis E, Parnes A, Connors JM, Connell NT, Discenza MN, Handin RI, Berliner N, Shimamura A, Ginsburg ES, Smith NA. Gansner JM, et al. Among authors: shimamura a. Blood. 2017 Oct 5;130(14):1671-1674. doi: 10.1182/blood-2017-08-798462. Epub 2017 Aug 10. Blood. 2017. PMID: 28798157 Free PMC article. No abstract available.
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Seo A, Steinberg-Shemer O, Unal S, Casadei S, Walsh T, Gumruk F, Shalev S, Shimamura A, Akarsu NA, Tamary H, King MC. Seo A, et al. Among authors: shimamura a. Proc Natl Acad Sci U S A. 2018 May 15;115(20):5241-5246. doi: 10.1073/pnas.1801796115. Epub 2018 Apr 30. Proc Natl Acad Sci U S A. 2018. PMID: 29712865 Free PMC article.
291 results