Diamond Blackfan Anemia: Genetics, Pathogenesis, Diagnosis and Treatment.
Diamond Blackfan Anemia
bone marrow failure syndromes
pure red cell aplasia
ribosomal proteins
ribosomopathies
Journal
EJIFCC
ISSN: 1650-3414
Titre abrégé: EJIFCC
Pays: Italy
ID NLM: 101092742
Informations de publication
Date de publication:
Mar 2019
Mar 2019
Historique:
entrez:
19
3
2019
pubmed:
19
3
2019
medline:
19
3
2019
Statut:
epublish
Résumé
Diamond Blackfan Anaemia (DBA) is a sporadic inherited anemia with broad spectrum of anomalies that are presented soon after delivery. It is inherited mainly in autosomal dominant inheritance manner and caused by mutations and deletions in either large or small ribosomal protein genes that results in an imbalance between the biosynthesis of rRNA and ribosomal proteins, eventually the activation and stabilization of p53. Diagnosing DBA is usually problematic due to a partial phenotype and its wide inconsistency in its clinical expression; however, molecular studies have identified a heterozygous mutated gene in up to 50% of the DBA cases and corticosteroid drugs are the backbone treatment options of DBA. Anomalies in bone marrow function in DBA cases are broadly associated with both congenital and acquired bone marrow failure syndromes in human. In this review different literatures were searched in Medline (eg. PubMed, PMC, Hinari, Google scholar), OMIM, EMBASE by using search engines (Google, Yahoo, Baidu Ask.com) and searching was performed by using search key words (DBA, ribosomopathies, Bone Marrow Failure Syndromes, pure red cell aplasia). Only human studies were included. This review is summarizing the current understandings of DBA.
Types de publication
Journal Article
Langues
eng
Pagination
67-81Références
Pediatr Res. 1999 Nov;46(5):553-61
pubmed: 10541318
Am J Dis Child. 1961 Sep;102:403-15
pubmed: 13722603
Haematologica. 2004 Apr;89(4):480-9
pubmed: 15075082
Blood. 2005 Jan 15;105(2):838-46
pubmed: 15238419
Mol Cell Biol. 2004 Sep;24(17):7654-68
pubmed: 15314173
Mol Cell Biol. 2004 Sep;24(17):7669-80
pubmed: 15314174
Semin Hematol. 2006 Jul;43(3):167-77
pubmed: 16822459
Blood. 2007 Feb 1;109(3):980-6
pubmed: 16990592
Blood. 2007 Feb 1;109(3):1275-83
pubmed: 17053056
Nature. 2007 Jan 4;445(7123):102-5
pubmed: 17167422
Am J Hum Genet. 2006 Dec;79(6):1110-8
pubmed: 17186470
Hum Mol Genet. 2007 Jul 15;16(14):1720-7
pubmed: 17517689
Nucleic Acids Res. 2007;35(17):5913-21
pubmed: 17726054
Cell Cycle. 2007 Sep 15;6(18):2246-51
pubmed: 17890902
Stem Cells. 2008 Feb;26(2):323-9
pubmed: 17962699
Hum Mutat. 2008 Jul;29(7):911-20
pubmed: 18412286
Blood. 2008 Sep 1;112(5):1582-92
pubmed: 18535205
Nat Genet. 2008 Aug;40(8):963-70
pubmed: 18641651
Br J Haematol. 2008 Sep;142(6):859-76
pubmed: 18671700
RNA. 2008 Sep;14(9):1918-29
pubmed: 18697920
Exp Hematol. 2008 Nov;36(11):1428-35
pubmed: 18715690
Haematologica. 2008 Nov;93(11):1601-4
pubmed: 18978295
Am J Hum Genet. 2008 Dec;83(6):769-80
pubmed: 19061985
Hum Mutat. 2009 Mar;30(3):321-7
pubmed: 19191325
Nat Cell Biol. 2009 Apr;11(4):501-8
pubmed: 19287375
Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82
pubmed: 19327583
Haematologica. 2010 Feb;95(2):206-13
pubmed: 19773262
Br J Haematol. 2010 Feb;148(4):611-22
pubmed: 19958353
Am J Hum Genet. 2010 Feb 12;86(2):222-8
pubmed: 20116044
Blood. 2010 Apr 22;115(16):3196-205
pubmed: 20194897
Haematologica. 2010 Aug;95(8):1293-9
pubmed: 20378560
Blood. 2010 Oct 14;116(15):2826-35
pubmed: 20606162
Blood. 2010 Nov 11;116(19):3715-23
pubmed: 20651069
J Biol Chem. 2010 Oct 8;285(41):31087-93
pubmed: 20670937
Int J Hematol. 2010 Oct;92(3):413-8
pubmed: 20882441
Blood. 2011 Mar 3;117(9):2567-76
pubmed: 21068437
Oncogene. 2011 Apr 14;30(15):1798-811
pubmed: 21170087
Semin Hematol. 2011 Apr;48(2):117-23
pubmed: 21435508
Blood. 2011 Jul 14;118(2):231-9
pubmed: 21622645
Blood. 2011 Dec 22;118(26):6943-51
pubmed: 22045982
Hematology Am Soc Hematol Educ Program. 2011;2011:487-91
pubmed: 22160079
Blood. 2012 Apr 19;119(16):3815-9
pubmed: 22362038
Hum Mutat. 2012 Jul;33(7):1037-44
pubmed: 22431104
J Clin Invest. 2012 Jul;122(7):2439-43
pubmed: 22706301
Genes Cancer. 2012 Mar;3(3-4):298-310
pubmed: 23150763
Br J Haematol. 2013 Feb;160(4):547-54
pubmed: 23252420
Am J Hematol. 2013 Feb;88(2):160
pubmed: 23349008
Eur J Hum Genet. 2013 Oct;21(10):null
pubmed: 23463023
Blood. 2013 Aug 8;122(6):912-21
pubmed: 23744582
Blood. 2013 Sep 26;122(13):2162-6
pubmed: 23940284
Biochim Biophys Acta. 2014 Jun;1842(6):765-8
pubmed: 24412987
Exp Mol Med. 2014 Mar 28;46:e88
pubmed: 24675553
FEBS Lett. 2014 Aug 19;588(16):2571-9
pubmed: 24747423
Am J Med Genet A. 2014 Sep;164A(9):2240-9
pubmed: 24942156
Nat Med. 2014 Jul;20(7):748-53
pubmed: 24952648
Am J Hematol. 2014 Oct;89(10):985-91
pubmed: 25042156
Br J Haematol. 2015 Mar;168(6):854-64
pubmed: 25424902
Nucleus. 2014 Sep-Oct;5(5):402-26
pubmed: 25482194
Dis Model Mech. 2015 Sep;8(9):1013-26
pubmed: 26398160
Oncotarget. 2016 Mar 29;7(13):16217-26
pubmed: 26908445
Blood Cells Mol Dis. 2016 Nov;62:1-5
pubmed: 27732904
Br J Haematol. 1989 Sep;73(1):112-20
pubmed: 2803966
Zhongguo Dang Dai Er Ke Za Zhi. 2017 Feb;19(2):171-175
pubmed: 28202115
Am J Hum Genet. 2017 Mar 2;100(3):506-522
pubmed: 28257692
J Med Genet. 2017 Jun;54(6):417-425
pubmed: 28280134
Blood Cells Mol Dis. 2017 May;64:38-44
pubmed: 28376382
Tohoku J Exp Med. 2017;242(2):83-91
pubmed: 28566565
Clin Genet. 2018 Feb;93(2):320-328
pubmed: 29044489
Eur J Med Genet. 2018 Nov;61(11):664-673
pubmed: 29081386
Eur J Haematol. 2018 Feb;100(2):163-170
pubmed: 29114930
Leukemia. 2018 Feb;32(2):249-251
pubmed: 29182601
Int J Hematol. 2018 Aug;108(2):228-231
pubmed: 29476317
Haematologica. 2018 Jun;103(6):949-958
pubmed: 29599205
Circ Genom Precis Med. 2018 May;11(5):e002044
pubmed: 29748317
Blood. 1982 Jan;59(1):114-23
pubmed: 7053758
Medicine (Baltimore). 1996 Mar;75(2):77-8
pubmed: 8606629
Nat Genet. 1999 Feb;21(2):169-75
pubmed: 9988267