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MeSH Review

Dyskeratosis Congenita

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Disease relevance of Dyskeratosis Congenita


High impact information on Dyskeratosis Congenita


Chemical compound and disease context of Dyskeratosis Congenita


Biological context of Dyskeratosis Congenita


Anatomical context of Dyskeratosis Congenita


Gene context of Dyskeratosis Congenita


Analytical, diagnostic and therapeutic context of Dyskeratosis Congenita


  1. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. Ly, H., Schertzer, M., Jastaniah, W., Davis, J., Yong, S.L., Ouyang, Q., Blackburn, E.H., Parslow, T.G., Lansdorp, P.M. Blood (2005) [Pubmed]
  2. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita. Güngör, T., Corbacioglu, S., Storb, R., Seger, R.A. Bone Marrow Transplant. (2003) [Pubmed]
  3. Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts. Pai, G.S., Yan, Y., DeBauche, D.M., Stanley, W.S., Paul, S.R. Cytogenet. Cell Genet. (1989) [Pubmed]
  4. p53 expression in dyskeratosis congenita: a marker for oral premalignancy? Ogden, G.R., Lane, D.P., Chisholm, D.M. J. Clin. Pathol. (1993) [Pubmed]
  5. Granulocytic macrophage colony stimulating factor restores in vitro growth of granulocyte-macrophage bone marrow hematopoietic progenitors in dyskeratosis congenita. Michalevicz, R., Baron, S., Nordan, U., Rahmani, R. Isr. J. Med. Sci. (1989) [Pubmed]
  6. Short telomeres, even in the presence of telomerase, limit tissue renewal capacity. Hao, L.Y., Armanios, M., Strong, M.A., Karim, B., Feldser, D.M., Huso, D., Greider, C.W. Cell (2005) [Pubmed]
  7. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Vulliamy, T., Marrone, A., Szydlo, R., Walne, A., Mason, P.J., Dokal, I. Nat. Genet. (2004) [Pubmed]
  8. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Heiss, N.S., Knight, S.W., Vulliamy, T.J., Klauck, S.M., Wiemann, S., Mason, P.J., Poustka, A., Dokal, I. Nat. Genet. (1998) [Pubmed]
  9. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Vulliamy, T., Marrone, A., Goldman, F., Dearlove, A., Bessler, M., Mason, P.J., Dokal, I. Nature (2001) [Pubmed]
  10. A telomerase component is defective in the human disease dyskeratosis congenita. Mitchell, J.R., Wood, E., Collins, K. Nature (1999) [Pubmed]
  11. Functional importance of motif I of pseudouridine synthases: mutagenesis of aligned lysine and proline residues. Spedaliere, C.J., Hamilton, C.S., Mueller, E.G. Biochemistry (2000) [Pubmed]
  12. Heterozygote detection through bleomycin-induced G2 chromatid breakage in dyskeratosis congenita families. Ning, Y., Yongshan, Y., Pai, G.S., Gross, A.J. Cancer Genet. Cytogenet. (1992) [Pubmed]
  13. The role of aminocaproic acid in lacrimal surgery in dyskeratosis congenita. Woog, J.J., Dortzbach, R.K., Wexler, S.A., Shahidi, N.T. Am. J. Ophthalmol. (1985) [Pubmed]
  14. Aplastic anemia associated with dyskeratosis congenita treated with antilymphocyte globulin and cyclosporine: a case report. Huang, H.M., Yu, W.L., Huang, Y.L., Hwang, W.S., Tsao, C.J., Liu, H.S., Huang, G.C. Chin. Med. J. (2005) [Pubmed]
  15. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Mochizuki, Y., He, J., Kulkarni, S., Bessler, M., Mason, P.J. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  16. Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity. Salowsky, R., Heiss, N.S., Benner, A., Wittig, R., Poustka, A. Gene (2002) [Pubmed]
  17. Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita. Wong, J.M., Kyasa, M.J., Hutchins, L., Collins, K. Hum. Genet. (2004) [Pubmed]
  18. Dyskeratosis congenita: telomerase, telomeres and anticipation. Marrone, A., Walne, A., Dokal, I. Curr. Opin. Genet. Dev. (2005) [Pubmed]
  19. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Vulliamy, T.J., Walne, A., Baskaradas, A., Mason, P.J., Marrone, A., Dokal, I. Blood Cells Mol. Dis. (2005) [Pubmed]
  20. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. Zucchini, C., Strippoli, P., Biolchi, A., Solmi, R., Lenzi, L., D'Addabbo, P., Carinci, P., Valvassori, L. Int. J. Mol. Med. (2003) [Pubmed]
  21. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice. He, J., Navarrete, S., Jasinski, M., Vulliamy, T., Dokal, I., Bessler, M., Mason, P.J. Oncogene (2002) [Pubmed]
  22. Localization of stem cell factor mRNA in adult rat hippocampus. Wong, M.L., Licinio, J. Neuroimmunomodulation (1994) [Pubmed]
  23. Fatal diffuse capillaritis after hematopoietic stem-cell transplantation for dyskeratosis congenita despite low-intensity conditioning regimen. Brazzola, P., Duval, M., Fournet, J.C., Gauvin, F., Dalle, J.H., Champagne, J., Champagne, M.A. Bone Marrow Transplant. (2005) [Pubmed]
  24. Kindler syndrome. Kaviarasan, P.K., Prasad, P.V., Shradda, n.u.l.l., Viswanathan, P. Indian journal of dermatology, venereology and leprology. (2005) [Pubmed]
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