Encyclopedia of Life Sciences 2013
DOI: 10.1002/9780470015902.a0024269
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Genetics of Dyskeratosis Congenita

Abstract: Dyskeratosis congenita (DC) is a rare, inherited, skin and bone marrow failure disease. It is a multisystem disorder which is heterogeneous at the genetic and clinical levels. Genetically, nine genes have so far been identified whose mutation causes DC, and inheritance of the disease can be X linked, autosomal dominant or recessive. Clinically, the disease can present in childhood as classical DC with a characteristic triad of nail dystrophy, leukoplakia and abnormal skin pigmentation along with progressive bo… Show more

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Cited by 21 publications
(33 citation statements)
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“…Telomerase dysfunction and ribosome deficiency characterize this disorder, whereas mutations in eight genes (DKC1, TERT, TERC, TINF1, NOP10, NPH2, TCAB1 and RTEL1) involved in the telomerase complex have been identified in recent years. 19,20 Until recently, HSCT has shown disappointing results, mainly owing to severe late effects, which have included graft failure, GvHD, sepsis and, more importantly, the propensity to develop organ toxicity, including pulmonary fibrosis, hepatic cirrhosis and veno-occlusive disease, among others. 21 Indication for HSCT.…”
Section: DCmentioning
confidence: 99%
“…Telomerase dysfunction and ribosome deficiency characterize this disorder, whereas mutations in eight genes (DKC1, TERT, TERC, TINF1, NOP10, NPH2, TCAB1 and RTEL1) involved in the telomerase complex have been identified in recent years. 19,20 Until recently, HSCT has shown disappointing results, mainly owing to severe late effects, which have included graft failure, GvHD, sepsis and, more importantly, the propensity to develop organ toxicity, including pulmonary fibrosis, hepatic cirrhosis and veno-occlusive disease, among others. 21 Indication for HSCT.…”
Section: DCmentioning
confidence: 99%
“…Some of these H/ACA RNAs are further processed to micro RNAs attenuating translation of target mRNAs. Significantly, mutations in the enzyme of H/ACA RNPs, the pseudouridine synthase NAP57 (also dyskerin, and Cbf5p in yeast), cause the predominant X-linked form of the bone marrow failure syndrome dyskeratosis congenita (X-DC) (Meier 2005;Matera et al 2007;Kiss et al 2010;Mason and Bessler 2011).…”
Section: Introductionmentioning
confidence: 99%
“…Telomere damage has been existed in so many cancer development in humans [8][9][10][11] . Further work on the mechanisms of telomeric DNA, telomerase, and telomere-binding proteins function together will greatly facilitate our search for diagnostic of telomere-relevant diseases.…”
Section: Could We Modify the Radiosensitivity By Explosing The Functimentioning
confidence: 99%