BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

160 related articles for article (PubMed ID: 15996880)

  • 1. Investigation of a putative role for FLVCR, a cytoplasmic heme exporter, in Diamond-Blackfan anemia.
    Quigley JG; Gazda H; Yang Z; Ball S; Sieff CA; Abkowitz JL
    Blood Cells Mol Dis; 2005; 35(2):189-92. PubMed ID: 15996880
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis.
    Rey MA; Duffy SP; Brown JK; Kennedy JA; Dick JE; Dror Y; Tailor CS
    Haematologica; 2008 Nov; 93(11):1617-26. PubMed ID: 18815190
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A heme export protein is required for red blood cell differentiation and iron homeostasis.
    Keel SB; Doty RT; Yang Z; Quigley JG; Chen J; Knoblaugh S; Kingsley PD; De Domenico I; Vaughn MB; Kaplan J; Palis J; Abkowitz JL
    Science; 2008 Feb; 319(5864):825-8. PubMed ID: 18258918
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Alteration of heme metabolism in a cellular model of Diamond-Blackfan anemia.
    Mercurio S; Aspesi A; Silengo L; Altruda F; Dianzani I; Chiabrando D
    Eur J Haematol; 2016 Apr; 96(4):367-74. PubMed ID: 26058344
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
    Cmejla R; Cmejlova J; Handrkova H; Petrak J; Petrtylova K; Mihal V; Stary J; Cerna Z; Jabali Y; Pospisilova D
    Hum Mutat; 2009 Mar; 30(3):321-7. PubMed ID: 19191325
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb.
    Gustavsson P; Willing TN; van Haeringen A; Tchernia G; Dianzani I; Donnér M; Elinder G; Henter JI; Nilsson PG; Gordon L; Skeppner G; van't Veer-Korthof L; Kreuger A; Dahl N
    Nat Genet; 1997 Aug; 16(4):368-71. PubMed ID: 9241274
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular basis of Diamond-Blackfan anaemia: what have we learnt so far? Review article.
    Cmejla R; Cmejlová J
    Sb Lek; 2003; 104(2):171-81. PubMed ID: 14577127
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
    Gazda H; Lipton JM; Willig TN; Ball S; Niemeyer CM; Tchernia G; Mohandas N; Daly MJ; Ploszynska A; Orfali KA; Vlachos A; Glader BE; Rokicka-Milewska R; Ohara A; Baker D; Pospisilova D; Webber A; Viskochil DH; Nathan DG; Beggs AH; Sieff CA
    Blood; 2001 Apr; 97(7):2145-50. PubMed ID: 11264183
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry.
    Lipton JM; Atsidaftos E; Zyskind I; Vlachos A
    Pediatr Blood Cancer; 2006 May; 46(5):558-64. PubMed ID: 16317735
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.
    Song MJ; Yoo EH; Lee KO; Kim GN; Kim HJ; Kim SY; Kim SH
    Pediatr Blood Cancer; 2010 Apr; 54(4):629-31. PubMed ID: 19953637
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia.
    Cmejlova J; Cerna Z; Votava T; Pospisilova D; Cmejla R
    Blood Cells Mol Dis; 2006; 36(3):337-41. PubMed ID: 16531079
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Translational efficiency in patients with Diamond-Blackfan anemia.
    Cmejlova J; Dolezalova L; Pospisilova D; Petrtylova K; Petrak J; Cmejla R
    Haematologica; 2006 Nov; 91(11):1456-64. PubMed ID: 17082006
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Diamond blackfan anemia: New paradigms for a "not so pure" inherited red cell aplasia.
    Lipton JM
    Semin Hematol; 2006 Jul; 43(3):167-77. PubMed ID: 16822459
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Nonsense-mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond-Blackfan anemia.
    Chatr-Aryamontri A; Angelini M; Garelli E; Tchernia G; Ramenghi U; Dianzani I; Loreni F
    Hum Mutat; 2004 Dec; 24(6):526-33. PubMed ID: 15523650
    [TBL] [Abstract][Full Text] [Related]  

  • 15. RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
    Gazda HT; Zhong R; Long L; Niewiadomska E; Lipton JM; Ploszynska A; Zaucha JM; Vlachos A; Atsidaftos E; Viskochil DH; Niemeyer CM; Meerpohl JJ; Rokicka-Milewska R; Pospisilova D; Wiktor-Jedrzejczak W; Nathan DG; Beggs AH; Sieff CA
    Br J Haematol; 2004 Oct; 127(1):105-13. PubMed ID: 15384984
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
    Crétien A; Hurtaud C; Moniz H; Proust A; Marie I; Wagner-Ballon O; Choesmel V; Gleizes PE; Leblanc T; Delaunay J; Tchernia G; Mohandas N; Da Costa L
    Haematologica; 2008 Nov; 93(11):1627-34. PubMed ID: 18768533
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Development of cellular models for ribosomal protein S19 (RPS19)-deficient diamond-blackfan anemia using inducible expression of siRNA against RPS19.
    Miyake K; Flygare J; Kiefer T; Utsugisawa T; Richter J; Ma Z; Wiznerowicz M; Trono D; Karlsson S
    Mol Ther; 2005 Apr; 11(4):627-37. PubMed ID: 15771965
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Dominant form of Diamond-Blackfan anemia].
    Stimac M; Calo J; Turjak N; Loncar B
    Lijec Vjesn; 2002; 124(11-12):354-9. PubMed ID: 12679976
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia.
    Uechi T; Nakajima Y; Chakraborty A; Torihara H; Higa S; Kenmochi N
    Hum Mol Genet; 2008 Oct; 17(20):3204-11. PubMed ID: 18653748
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a human heme exporter that is essential for erythropoiesis.
    Quigley JG; Yang Z; Worthington MT; Phillips JD; Sabo KM; Sabath DE; Berg CL; Sassa S; Wood BL; Abkowitz JL
    Cell; 2004 Sep; 118(6):757-66. PubMed ID: 15369674
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.