BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 1570328)

  • 1. Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.
    Cotter PD; Baumann M; Bishop DF
    Proc Natl Acad Sci U S A; 1992 May; 89(9):4028-32. PubMed ID: 1570328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
    Cox TC; Bottomley SS; Wiley JS; Bawden MJ; Matthews CS; May BK
    N Engl J Med; 1994 Mar; 330(10):675-9. PubMed ID: 8107717
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 84(11):3915-24. PubMed ID: 7949148
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.
    Cotter PD; May A; Fitzsimons EJ; Houston T; Woodcock BE; al-Sabah AI; Wong L; Bishop DF
    J Clin Invest; 1995 Oct; 96(4):2090-6. PubMed ID: 7560104
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 125(4):193-7. PubMed ID: 21252495
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
    Harigae H; Furuyama K; Kudo K; Hayashi N; Yamamoto M; Sassa S; Sasaki T
    Am J Hematol; 1999 Oct; 62(2):112-4. PubMed ID: 10577279
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations.
    Cotter PD; Willard HF; Gorski JL; Bishop DF
    Genomics; 1992 May; 13(1):211-2. PubMed ID: 1577484
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 41(2):76-83. PubMed ID: 1415186
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 103(3):839-41. PubMed ID: 9858242
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Erythroid 5-aminolevulinate synthase is located on the X chromosome.
    Cox TC; Bawden MJ; Abraham NG; Bottomley SS; May BK; Baker E; Chen LZ; Sutherland GR
    Am J Hum Genet; 1990 Jan; 46(1):107-11. PubMed ID: 2294742
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Multiple mechanisms for hereditary sideroblastic anemia.
    Furuyama K; Sassa S
    Cell Mol Biol (Noisy-le-grand); 2002 Feb; 48(1):5-10. PubMed ID: 11929048
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
    Bottomley SS; May BK; Cox TC; Cotter PD; Bishop DF
    J Bioenerg Biomembr; 1995 Apr; 27(2):161-8. PubMed ID: 7592563
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 102(2):698-704. PubMed ID: 12663458
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene.
    Edgar AJ; Wickramasinghe SN
    Br J Haematol; 1998 Feb; 100(2):389-92. PubMed ID: 9488633
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Bone marrow delta-aminolaevulinate synthase deficiency in a female with congenital sideroblastic anemia.
    Buchanan GR; Bottomley SS; Nitschke R
    Blood; 1980 Jan; 55(1):109-15. PubMed ID: 7350930
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Erythroid 5-aminolevulinate synthase and X-linked sideroblastic anemia.
    Ferreira GC
    J Fla Med Assoc; 1993 Jul; 80(7):481-3. PubMed ID: 8089650
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.
    Fratz-Berilla EJ; Breydo L; Gouya L; Puy H; Uversky VN; Ferreira GC
    Biochim Biophys Acta Mol Basis Dis; 2017 Feb; 1863(2):428-439. PubMed ID: 27838491
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.
    Edgar AJ; Vidyatilake HM; Wickramasinghe SN
    Eur J Haematol; 1998 Jul; 61(1):55-8. PubMed ID: 9688293
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
    Hurford MT; Marshall-Taylor C; Vicki SL; Zhou JZ; Silverman LM; Rezuke WN; Altman A; Tsongalis GJ
    Clin Chim Acta; 2002 Jul; 321(1-2):49-53. PubMed ID: 12031592
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene.
    Furuyama K; Fujita H; Nagai T; Yomogida K; Munakata H; Kondo M; Kimura A; Kuramoto A; Hayashi N; Yamamoto M
    Blood; 1997 Jul; 90(2):822-30. PubMed ID: 9226183
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.