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Bloom syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Bloom syndrome.
Ellis NA, Ciocci S, Proytcheva M, Lennon D, Groden J, German J. The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. Am J Hum Genet. 1998 Dec;63(6):1685-93.
PubMed citation
Garkavtsev IV, Kley N, Grigorian IA, Gudkov AV. The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. Oncogene. 2001 Dec 13;20(57):8276-80.
PubMed citation
Gaymes TJ, North PS, Brady N, Hickson ID, Mufti GJ, Rassool FV. Increased error-prone non homologous DNA end-joining--a proposed mechanism of chromosomal instability in Bloom's syndrome. Oncogene. 2002 Apr 11;21(16):2525-33.
PubMed citation
Hickson ID, Davies SL, Li JL, Levitt NC, Mohaghegh P, North PS, Wu L. Role of the Bloom's syndrome helicase in maintenance of genome stability. Biochem Soc Trans. 2001 May;29(Pt 2):201-4. Review.
PubMed citation
Infobiogen
Kaneko H, Isogai K, Fukao T, Matsui E, Kasahara K, Yachie A, Seki H, Koizumi S, Arai M, Utunomiya J, Miki Y, Kondo N. Relatively common mutations of the Bloom syndrome gene in the Japanese population. Int J Mol Med. 2004 Sep;14(3):439-42.
PubMed citation
Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn. 2004 May;4(3):393-401. Review.
PubMed citation
Orphanet
Pedrazzi G, Bachrati CZ, Selak N, Studer I, Petkovic M, Hickson ID, Jiricny J, Stagljar I. The Bloom's syndrome helicase interacts directly with the human DNA mismatch repair protein hMSH6. Biol Chem. 2003 Aug;384(8):1155-64.
PubMed citation
Roa BB, Savino CV, Richards CS. Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. Genet Test. 1999;3(2):219-21.
PubMed citation
Schawalder J, Paric E, Neff NF. Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. BMC Cell Biol. 2003 Oct 27;4:15.
PubMed citation
Wu L, Hickson ID. The Bloom's syndrome helicase suppresses crossing over during homologous recombination. Nature. 2003 Dec 18;426(6968):870-4.
PubMed citation
Reviewed: July 2006
Published: January 23, 2009