BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

309 related articles for article (PubMed ID: 19412178)

  • 1. Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
    Guernsey DL; Jiang H; Campagna DR; Evans SC; Ferguson M; Kellogg MD; Lachance M; Matsuoka M; Nightingale M; Rideout A; Saint-Amant L; Schmidt PJ; Orr A; Bottomley SS; Fleming MD; Ludman M; Dyack S; Fernandez CV; Samuels ME
    Nat Genet; 2009 Jun; 41(6):651-3. PubMed ID: 19412178
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
    Fernández-Murray JP; Prykhozhij SV; Dufay JN; Steele SL; Gaston D; Nasrallah GK; Coombs AJ; Liwski RS; Fernandez CV; Berman JN; McMaster CR
    PLoS Genet; 2016 Jan; 12(1):e1005783. PubMed ID: 26821380
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
    Bergmann AK; Campagna DR; McLoughlin EM; Agarwal S; Fleming MD; Bottomley SS; Neufeld EJ
    Pediatr Blood Cancer; 2010 Feb; 54(2):273-8. PubMed ID: 19731322
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.
    Mehri M; Zarin M; Ardalani F; Najmabadi H; Azarkeivan A; Neishabury M
    Blood Cells Mol Dis; 2018 Jul; 71():39-44. PubMed ID: 29499877
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.
    Kannengiesser C; Sanchez M; Sweeney M; Hetet G; Kerr B; Moran E; Fuster Soler JL; Maloum K; Matthes T; Oudot C; Lascaux A; Pondarré C; Sevilla Navarro J; Vidyatilake S; Beaumont C; Grandchamp B; May A
    Haematologica; 2011 Jun; 96(6):808-13. PubMed ID: 21393332
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathophysiology and genetic mutations in congenital sideroblastic anemia.
    Fujiwara T; Harigae H
    Pediatr Int; 2013 Dec; 55(6):675-9. PubMed ID: 24003969
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
    LeBlanc MA; Bettle A; Berman JN; Price VE; Pambrun C; Yu Z; Tiller M; McMaster CR; Fernandez CV
    Pediatr Blood Cancer; 2016 Jul; 63(7):1307-9. PubMed ID: 27038157
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.
    Furuyama K; Kaneko K
    Int J Hematol; 2018 Jan; 107(1):44-54. PubMed ID: 29139060
    [TBL] [Abstract][Full Text] [Related]  

  • 9. SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
    Heeney MM; Berhe S; Campagna DR; Oved JH; Kurre P; Shaw PJ; Teo J; Shanap MA; Hassab HM; Glader BE; Shah S; Yoshimi A; Ameri A; Antin JH; Boudreaux J; Briones M; Dickerson KE; Fernandez CV; Farah R; Hasle H; Keel SB; Olson TS; Powers JM; Rose MJ; Shimamura A; Bottomley SS; Fleming MD
    Hum Mutat; 2021 Nov; 42(11):1367-1383. PubMed ID: 34298585
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Novel frameshift variant (c.409dupG) in
    Ravindra N; Athiyarath R; S E; S S; Kulkarni U; N A F; Korula A; Shaji RV; George B; Edison ES
    J Clin Pathol; 2021 Mar; 74(3):157-162. PubMed ID: 32605921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing.
    Cazzola M; Malcovati L
    Hematology Am Soc Hematol Educ Program; 2015; 2015():19-25. PubMed ID: 26637696
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
    Le Rouzic MA; Fouquet C; Leblanc T; Touati M; Fouyssac F; Vermylen C; Jäkel N; Guichard JF; Maloum K; Toutain F; Lutz P; Perel Y; Manceau H; Kannengiesser C; Vannier JP
    Blood Cells Mol Dis; 2017 Jul; 66():11-18. PubMed ID: 28772256
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hereditary sideroblastic anemia: pathophysiology and gene mutations.
    Harigae H; Furuyama K
    Int J Hematol; 2010 Oct; 92(3):425-31. PubMed ID: 20848343
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
    Camaschella C
    Semin Hematol; 2009 Oct; 46(4):371-7. PubMed ID: 19786205
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.
    Fujiwara T; Harigae H
    Free Radic Biol Med; 2019 Mar; 133():179-185. PubMed ID: 30098397
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The genetics of inherited sideroblastic anemias.
    Fleming MD
    Semin Hematol; 2002 Oct; 39(4):270-81. PubMed ID: 12382202
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.
    Long Z; Li H; Du Y; Han B
    Gene; 2018 Aug; 668():182-189. PubMed ID: 29787825
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital sideroblastic anaemia with a novel frameshift mutation in SLC25A38.
    Wong WS; Wong HF; Cheng CK; Chang KO; Chan NP; Ng MH; Wong KF
    J Clin Pathol; 2015 Mar; 68(3):249-51. PubMed ID: 25512395
    [No Abstract]   [Full Text] [Related]  

  • 20. Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.
    Uminski K; Houston DS; Hartley JN; Liu J; Cuvelier GDE; Israels SJ
    Pediatr Blood Cancer; 2020 Oct; 67(10):e28623. PubMed ID: 32790119
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.