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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
BLM
gene.
Amor-Guéret M, Dubois-d'Enghien C, Laugé A, Onclercq-Delic R, Barakat A, Chadli E, Bousfiha AA, Benjelloun M, Flori E, Doray B, Laugel V, Lourenço MT, Gonçalves R, Sousa S, Couturier J, Stoppa-Lyonnet D. Three new BLM gene mutations associated with Bloom syndrome. Genet Test. 2008 Jun;12(2):257-61. doi: 10.1089/gte.2007.0119.
PubMed citation
Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. Cancer Lett. 2006 May 8;236(1):1-12. Epub 2005 Jun 13. Review.
PubMed citation
Bugreev DV, Yu X, Egelman EH, Mazin AV. Novel pro- and anti-recombination activities of the Bloom's syndrome helicase. Genes Dev. 2007 Dec 1;21(23):3085-94. Epub 2007 Nov 14.
PubMed citation
Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom's syndrome helicase in the maintenance of genome stability. Biochem Soc Trans. 2005 Dec;33(Pt 6):1456-9. Review.
PubMed citation
Entrez
Gene
Gene Review: Bloom's
Syndrome
German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat. 2007 Aug;28(8):743-53.
PubMed citation
Guo RB, Rigolet P, Ren H, Zhang B, Zhang XD, Dou SX, Wang PY, Amor-Gueret M, Xi XG. Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310. Epub 2007 Sep 18.
PubMed citation
Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20):2737-42. doi: 10.1101/gad.1732808.
PubMed citation
OMIM:
RECQ PROTEIN-LIKE
3
Ouyang KJ, Woo LL, Ellis NA. Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases. Mech Ageing Dev. 2008 Jul-Aug;129(7-8):425-40. doi: 10.1016/j.mad.2008.03.003. Epub 2008 Mar 15. Review.
PubMed citation
Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNA repair, genomic stability and aging. Biogerontology. 2009 Jun;10(3):235-52. doi: 10.1007/s10522-008-9205-z. Epub 2008 Dec 15. Review.
PubMed citation
Singh TR, Ali AM, Busygina V, Raynard S, Fan Q, Du CH, Andreassen PR, Sung P, Meetei AR. BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. Genes Dev. 2008 Oct 15;22(20):2856-68. doi: 10.1101/gad.1725108.
PubMed citation
Wu L. Role of the BLM helicase in replication fork management. DNA Repair (Amst). 2007 Jul 1;6(7):936-44. Epub 2007 Mar 23. Review.
PubMed citation
Xu D, Guo R, Sobeck A, Bachrati CZ, Yang J, Enomoto T, Brown GW, Hoatlin ME, Hickson ID, Wang W. RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. Genes Dev. 2008 Oct 15;22(20):2843-55. doi: 10.1101/gad.1708608.
PubMed citation
Reviewed: November 2010
Published: June 17, 2013