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Items: 1 to 20 of 261

1.

Recent insights into the pathogenesis of Diamond-Blackfan anaemia.

Gazda HT, Sieff CA.

Br J Haematol. 2006 Oct;135(2):149-57. Epub 2006 Aug 31. Review.

PMID:
16942586
2.

Molecular pathogenesis in Diamond-Blackfan anemia.

Ito E, Konno Y, Toki T, Terui K.

Int J Hematol. 2010 Oct;92(3):413-8. doi: 10.1007/s12185-010-0693-7. Epub 2010 Sep 30. Review.

PMID:
20882441
3.

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. doi: 10.3324/haematol.13359. Epub 2008 Sep 24.

4.

Erythropoiesis failure due to RPS19 deficiency is independent of an activated Tp53 response in a zebrafish model of Diamond-Blackfan anaemia.

Torihara H, Uechi T, Chakraborty A, Shinya M, Sakai N, Kenmochi N.

Br J Haematol. 2011 Mar;152(5):648-54. doi: 10.1111/j.1365-2141.2010.08535.x. Epub 2011 Jan 12.

PMID:
21223253
5.

Erythropoiesis in the Rps19 disrupted mouse: Analysis of erythropoietin response and biochemical markers for Diamond-Blackfan anemia.

Matsson H, Davey EJ, Fröjmark AS, Miyake K, Utsugisawa T, Flygare J, Zahou E, Byman I, Landin B, Ronquist G, Karlsson S, Dahl N.

Blood Cells Mol Dis. 2006 Mar-Apr;36(2):259-64. Epub 2006 Feb 7.

PMID:
16458028
6.

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. doi: 10.3324/haematol.13023. Epub 2008 Sep 2.

7.

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 15;17(20):3204-11. doi: 10.1093/hmg/ddn216. Epub 2008 Jul 24.

PMID:
18653748
8.

[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].

Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE.

Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Review. French.

9.

Ribosomal protein S19 deficiency leads to reduced proliferation and increased apoptosis but does not affect terminal erythroid differentiation in a cell line model of Diamond-Blackfan anemia.

Miyake K, Utsugisawa T, Flygare J, Kiefer T, Hamaguchi I, Richter J, Karlsson S.

Stem Cells. 2008 Feb;26(2):323-9. Epub 2007 Oct 25.

10.

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE.

Hum Mol Genet. 2008 May 1;17(9):1253-63. doi: 10.1093/hmg/ddn015. Epub 2008 Jan 29.

PMID:
18230666
11.

Diamond-Blackfan anemia: erythropoiesis lost in translation.

Flygare J, Karlsson S.

Blood. 2007 Apr 15;109(8):3152-4. Epub 2006 Dec 12. Review.

12.

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.

PMID:
15384984
13.

Gene therapy of Diamond Blackfan anemia CD34(+) cells leads to improved erythroid development and engraftment following transplantation.

Flygare J, Olsson K, Richter J, Karlsson S.

Exp Hematol. 2008 Nov;36(11):1428-35. doi: 10.1016/j.exphem.2008.06.012. Epub 2008 Aug 19.

PMID:
18715690
14.

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family.

Danilova N, Sakamoto KM, Lin S.

Blood. 2008 Dec 15;112(13):5228-37. doi: 10.1182/blood-2008-01-132290. Epub 2008 May 30.

15.

Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.

Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N.

Blood. 2003 Jun 15;101(12):5039-45. Epub 2003 Feb 13.

16.

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.

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.

18.

Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.

Wang R, Yoshida K, Toki T, Sawada T, Uechi T, Okuno Y, Sato-Otsubo A, Kudo K, Kamimaki I, Kanezaki R, Shiraishi Y, Chiba K, Tanaka H, Terui K, Sato T, Iribe Y, Ohga S, Kuramitsu M, Hamaguchi I, Ohara A, Hara J, Goi K, Matsubara K, Koike K, Ishiguro A, Okamoto Y, Watanabe K, Kanno H, Kojima S, Miyano S, Kenmochi N, Ogawa S, Ito E.

Br J Haematol. 2015 Mar;168(6):854-64. doi: 10.1111/bjh.13229. Epub 2014 Nov 25.

PMID:
25424902
19.

Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia.

Hamaguchi I, Ooka A, Brun A, Richter J, Dahl N, Karlsson S.

Blood. 2002 Oct 15;100(8):2724-31.

20.

Deficient RPS19 protein production induces cell cycle arrest in erythroid progenitor cells.

Kuramitsu M, Hamaguchi I, Takuo M, Masumi A, Momose H, Takizawa K, Mochizuki M, Naito S, Yamaguchi K.

Br J Haematol. 2008 Feb;140(3):348-59. doi: 10.1111/j.1365-2141.2007.06930.x.

PMID:
18217898

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