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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
TINF2
gene.
Baran I, Nalcaci R, Kocak M. Dyskeratosis congenita: clinical report and review of the literature. Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037.2009.00364.x. Review.
PubMed citation
Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008 May 1;111(9):4446-55. doi: 10.1182/blood-2007-08-019729. Epub 2008 Jan 31. Review.
PubMed citation
Calado RT. Telomeres and marrow failure. Hematology Am Soc Hematol Educ Program. 2009:338-43. doi: 10.1182/asheducation-2009.1.338. Review.
PubMed citation
Chan SS, Chang S. Defending the end zone: studying the players involved in protecting chromosome ends. FEBS Lett. 2010 Sep 10;584(17):3773-8. doi: 10.1016/j.febslet.2010.06.016. Epub 2010 Jun 19. Review.
PubMed citation
Entrez
Gene
Kirwan M, Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7. Review.
PubMed citation
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. Epub 2010 Oct 1. Review.
PubMed citation
OMIM:
TRF1-INTERACTING NUCLEAR FACTOR
2
Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.
PubMed citation
Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review.
PubMed citation
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30.
PubMed citation
Reviewed: April 2011
Published: May 20, 2013