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Li, V. DKC1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4821 (accessed on 28 September 2026).
Li V. DKC1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4821. Accessed September 28, 2026.
Li, Vivi. "DKC1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4821 (accessed September 28, 2026).
Li, V. (2020, December 24). DKC1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4821
Li, Vivi. "DKC1 Gene." Encyclopedia. Web. 24 December, 2020.
DKC1 Gene
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/dkc1

Dyskerin Pseudouridine Synthase 1: The DKC1 gene provides instructions for making a protein called dyskerin. 

genes

References

  1. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosiscongenita and related telomere biology disorders. Expert Rev Hematol. 2013Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Review.
  2. Dokal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program.2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Review.
  3. Gu B, Bessler M, Mason PJ. Dyskerin, telomerase and the DNA damage response.Cell Cycle. 2009 Jan 1;8(1):6-10.
  4. Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. BiochimBiophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010.
  5. Kirwan M, Dokal I. Dyskeratosis congenita: a genetic disorder of many faces.Clin Genet. 2008 Feb;73(2):103-12.
  6. Montanaro L. Dyskerin and cancer: more than telomerase. The defect in mRNAtranslation helps in explaining how a proliferative defect leads to cancer. JPathol. 2010 Dec;222(4):345-9. doi: 10.1002/path.2777.
  7. Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5.
  8. Rostamiani K, Klauck SM, Heiss N, Poustka A, Khaleghi M, Rosales R, MetzenbergAB. Novel mutations of the DKC1 gene in individuals affected with dyskeratosiscongenita. Blood Cells Mol Dis. 2010 Mar-Apr;44(2):88. doi:10.1016/j.bcmd.2009.10.005.
  9. Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinicalpresentation of mutations in the telomerase complex. Biochimie. 2008Jan;90(1):122-30.
  10. Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. BrJ Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Vivi Li
View Times: 785
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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