Bloom Syndrome

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1		Catherine Yang	+ 759 word(s)	759	2020-12-15 07:17:47

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Yang, C. Bloom Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4996 (accessed on 22 September 2026).

Yang C. Bloom Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4996. Accessed September 22, 2026.

Yang, Catherine. "Bloom Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4996 (accessed September 22, 2026).

Yang, C. (2020, December 24). Bloom Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4996

Yang, Catherine. "Bloom Syndrome." Encyclopedia. Web. 24 December, 2020.

Bloom Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/bloom-syndrome

Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer.

genetic conditions

References

Amor-Guéret M. Bloom syndrome, genomic instability and cancer: the SOS-likehypothesis. Cancer Lett. 2006 May 8;236(1):1-12.
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J.Bloom syndrome. Int J Dermatol. 2014 Jul;53(7):798-802. doi: 10.1111/ijd.12408.
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Cheok CF, Bachrati CZ, Chan KL, Ralf C, Wu L, Hickson ID. Roles of the Bloom'ssyndrome helicase in the maintenance of genome stability. Biochem Soc Trans. 2005Dec;33(Pt 6):1456-9. Review.
German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA. Syndrome-causing mutations ofthe BLM gene in persons in the Bloom's Syndrome Registry. Hum Mutat. 2007Aug;28(8):743-53.
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 mutationsin Bloom syndrome protein. Nucleic Acids Res. 2007;35(18):6297-310.
Kaneko H, Kondo N. Clinical features of Bloom syndrome and function of thecausative gene, BLM helicase. Expert Rev Mol Diagn. 2004 May;4(3):393-401.Review.
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.
Ouyang KJ, Woo LL, Ellis NA. Homologous recombination and maintenance ofgenome 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.
Singh DK, Ahn B, Bohr VA. Roles of RECQ helicases in recombination based DNArepair, genomic stability and aging. Biogerontology. 2009 Jun;10(3):235-52. doi: 10.1007/s10522-008-9205-z.
Wu L. Role of the BLM helicase in replication fork management. DNA Repair(Amst). 2007 Jul 1;6(7):936-44.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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