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• W2034887561 abstract "X-linked dyskeratosis congenita is a rare inherited disorder mainly characterized by progressive changes in proliferating epidermal, mucosal, and bone marrow tissues that commonly emerge after 10 y of life. It is caused by mutations of the DKC1 gene, which codes for dyskerin, a protein that may play a role in ribosomal biogenesis. In order to verify whether the defects of proliferating tissues observed in dyskeratosis congenita are due to an altered ribosome synthesis, we studied ribosomal biogenesis in relation to cell proliferation in two lymphoblastoid cell lines from dyskeratosis congenita patients and in one control line. We observed that in the dyskeratosis congenita cell lines the rRNA transcription and maturation and proliferative capability remained unimpaired. Increasing the number of cell cycles, however, leads to a steep rise in the apoptotic fraction of dyskeratosis congenita cells, which is not observed in controls. These findings demonstrate that whereas dyskeratosis congenita cell lines do not display proliferation defects, they do show progressively increasing levels of apoptosis in relation to the number of cell divisions. This concept is consistent with (i) the delayed onset of dyskeratosis congenita proliferating-tissue defects, which do not emerge during embrional development as would be expected with ribosomal biogenesis alterations, and (ii) with the increasing severity of the proliferating-tissue defects over time." @default.
• W2034887561 created "2016-06-24" @default.
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• W2034887561 date "2002-01-01" @default.
• W2034887561 modified "2023-10-18" @default.
• W2034887561 title "Increased Mortality Rate and Not Impaired Ribosomal Biogenesis is Responsible for Proliferative Defect in Dyskeratosis Congenita Cell Lines" @default.
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• W2034887561 doi "https://doi.org/10.1046/j.0022-202x.2001.01634.x" @default.
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