Dyskeratosis congenita is an inherited disorder that usually presents in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy and skin pigmentation. Whilst most cases are X-linked, autosomal dominant and recessive forms have been reported. The significance of the ...
Fig. 2. Histopathological features of dyskeratosis congenita (DC): (A) bone marrow slides show the loss of cells in an aplastic marrow, typical of dyskeratosis congenita; (B) fibroblasts grown from a patient with X-linked dyskeratosis congenita show a marked dysmorphism compared to those from ...
Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells. Nature 2011; 474 (7351): 399-402.Batista LF, Pech MF, Zhong FL, Nguyen HN, Xie KT, Zaug AJ, Crary SM, Choi J, Sebastiano V, Cherry A, et al. Telomere shortening and loss of self-...
Dyskeratosis congenita is a heterogeneous inherited bone marrow failure syndrome that is classically characterized by abnormal skin pigmentation, nail dystrophy and leukoplakia. X-linked recessive dyskeratosis congenita is due to mutations in DKC1, which encodes dyskerin. This protein is a key component ...
Dyskeratosis CongenitaHematopoietic Stem Cell TransplantationHumansImmunosuppressionTelomere骨髓疾病角化不良先天性造血干细胞移植Excerpt DISEASE CHARACTERISTICS: Dyskeratosis congenita (DC), a telomere biology disorder, is characterized by a classic triad of dysplastic nails, lacy reticular pigmentation of the upper...
We describe a woman with dyskeratosis congenita (DKC), microcephaly, and a purple discoloration of the tongue. The latter findings are not commonly described in males with DKC, have been reported in another female patient with this condition, and may represent the phenotype of an autosomal recessi...
While superficially similar, dyskeratosis congenita and Fanconi's anaemia are genetically distinct, being X‐linked in the former and inherited as an autosomal recessive in the latter. 展开 关键词: cytogenetics dermatologic dyskeratosis congenita family studies haematologic ...
RNA modifications are emerging as key determinants of gene expression. However, compelling genetic demonstrations of their relevance to human disease are lacking. Here, we link ribosomal RNA 2′-O-methylation (2′-O-Me) to the etiology of dyskeratosis congenita. We identify nucleophosmin (NPM1) ...
Dyskeratosis congenita is a rare inherited bone marrow–failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MI...
First, its very existence led to the identification of theDKC1 gene that causes X-linked dyskeratosis congenita. Second, a transcript is still detected from the partially deleted gene, despite the fact that the last exon of the DKC1 gene has been lost. Third, the neighboring gene, MPP1, ...