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Dyskeratosis congenita.
Vulliamy T, Dokal I. Vulliamy T, et al. Semin Hematol. 2006 Jul;43(3):157-66. doi: 10.1053/j.seminhematol.2006.04.001. Semin Hematol. 2006. PMID: 16822458 Review.
Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. ...The gene responsible for the X-linked form of the disease encodes a protein involved in ribosome biogenesis and in stabilizing the telomerase complex, while the autosomal dominant …
Dyskeratosis congenita (DC) is a rare inherited multi-system disorder. ...The gene responsible for the X-linked form of the di …
Dyskeratosis congenita.
Marrone A, Mason PJ. Marrone A, et al. Cell Mol Life Sci. 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. Cell Mol Life Sci. 2003. PMID: 12737310 Free PMC article. Review.
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. ...
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant …
Dyskeratosis congenita: telomerase, telomeres and anticipation.
Marrone A, Walne A, Dokal I. Marrone A, et al. Curr Opin Genet Dev. 2005 Jun;15(3):249-57. doi: 10.1016/j.gde.2005.04.004. Curr Opin Genet Dev. 2005. PMID: 15917199 Review.
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis congenita gene 1 (DKC1) mutations in X-linked recessive patients initially suggested that DC …
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. Th …
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A, Dokal I. Marrone A, et al. Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. doi: 10.1017/S1462399404008671. Expert Rev Mol Med. 2004. PMID: 15613268 Review.
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous abnormalities. ...DC can originate through: (1) mutations in DKC1, which result in X-linked recessive DC; (2) mutations in the RNA component …
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous a …
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ, Marrone A, Dokal I. Walne AJ, et al. Int J Hematol. 2005 Oct;82(3):184-9. doi: 10.1532/IJH97.05067. Int J Hematol. 2005. PMID: 16207588 Review.
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. ...
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heter …
Molecular basis and therapy of disorders associated with chronic neutropenia.
Stein SM, Dale DC. Stein SM, et al. Curr Allergy Asthma Rep. 2003 Sep;3(5):385-8. doi: 10.1007/s11882-003-0071-0. Curr Allergy Asthma Rep. 2003. PMID: 12906773 Review.
Severe congenital neutropenia and cyclic neutropenia, both usually inherited as autosomal-dominant disorders, are caused by mutations in the neutrophil elastase gene. ...The genes for several diseases with more complex phenotypes (eg, glycogen storage disease type 1 …
Severe congenital neutropenia and cyclic neutropenia, both usually inherited as autosomal-dominant disorders, are caused by mu …
Telomere length variation and telomerase activity expression in patients with congenital and acquired aplastic anemia.
Polychronopoulou S, Koutroumba P. Polychronopoulou S, et al. Acta Haematol. 2004;111(3):125-31. doi: 10.1159/000076519. Acta Haematol. 2004. PMID: 15034232 Review.
Furthermore, a strong correlation has been shown between TRF and the severity of aplastic anemia, but not with FA evolution towards myelodysplastic syndrome or acute myeloblastic leukemia. In respect of dyskeratosis congenita (DC), a disease of either X-linked or …
Furthermore, a strong correlation has been shown between TRF and the severity of aplastic anemia, but not with FA evolution towards myelodys …