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Journal Abstract Search

217 related items for PubMed ID: 15972158

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  • 4. Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.
    Peoc'h K, Nicolas G, Schmitt C, Mirmiran A, Daher R, Lefebvre T, Gouya L, Karim Z, Puy H.
    Mol Genet Metab; 2019 Nov; 128(3):190-197. PubMed ID: 30737140
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  • 5. Animal models for X-linked sideroblastic anemia.
    Yamamoto M, Nakajima O.
    Int J Hematol; 2000 Aug; 72(2):157-64. PubMed ID: 11039663
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  • 6. [A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].
    Zhu P, Bu D.
    Zhonghua Xue Ye Xue Za Zhi; 2000 Sep; 21(9):478-81. PubMed ID: 11877024
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  • 8. Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia.
    Ferreira GC.
    J Fla Med Assoc; 1993 Jul; 80(7):481-3. PubMed ID: 8089650
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  • 9. Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.
    Na I, Catena D, Kong MJ, Ferreira GC, Uversky VN.
    Int J Mol Sci; 2018 Jun 28; 19(7):. PubMed ID: 29958424
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  • 10. X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
    Cotter PD, Rucknagel DL, Bishop DF.
    Blood; 1994 Dec 01; 84(11):3915-24. PubMed ID: 7949148
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  • 11. Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
    Cotter PD, May A, Li L, Al-Sabah AI, Fitzsimons EJ, Cazzola M, Bishop DF.
    Blood; 1999 Mar 01; 93(5):1757-69. PubMed ID: 10029606
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  • 12. New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
    Kucerova J, Horvathova M, Mojzikova R, Belohlavkova P, Cermak J, Divoky V.
    Acta Haematol; 2011 Mar 01; 125(4):193-7. PubMed ID: 21252495
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  • 15. 5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells.
    Bottomley SS, Healy HM, Brandenburg MA, May BK.
    Am J Hematol; 1992 Oct 01; 41(2):76-83. PubMed ID: 1415186
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  • 16. A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.
    Bekri S, May A, Cotter PD, Al-Sabah AI, Guo X, Masters GS, Bishop DF.
    Blood; 2003 Jul 15; 102(2):698-704. PubMed ID: 12663458
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  • 17. R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
    Furuyama K, Uno R, Urabe A, Hayashi N, Fujita H, Kondo M, Sassa S, Yamamoto M.
    Br J Haematol; 1998 Dec 15; 103(3):839-41. PubMed ID: 9858242
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  • 18. Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
    Ono K, Fujiwara T, Saito K, Nishizawa H, Takahashi N, Suzuki C, Ochi T, Kato H, Ishii Y, Onodera K, Ichikawa S, Fukuhara N, Onishi Y, Yokoyama H, Yamada R, Nakamura Y, Igarashi K, Harigae H.
    Sci Rep; 2022 May 30; 12(1):9024. PubMed ID: 35637209
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  • 19. X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
    Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD.
    Am J Hematol; 2014 Mar 30; 89(3):315-9. PubMed ID: 24166784
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  • 20. [Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
    Kawakami T, Nakazawa H, Kawakami F, Matsuzawa S, Sudo Y, Sakai H, Nishina S, Senoo N, Senoo Y, Komatsu M, Umemura T, Yamaguchi T, Kosho T, Fujiwara T, Harigae H, Ishida F.
    Rinsho Ketsueki; 2018 Mar 30; 59(4):401-406. PubMed ID: 29743399
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