Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been shown to cause DC. The X-linked form is the most com...

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Gepubliceerd in:PLoS One
Hoofdauteurs: Gu, Bai-Wei, Apicella, Marisa, Mills, Jason, Fan, Jian-Meng, Reeves, Dara A., French, Deborah, Podsakoff, Gregory M., Bessler, Monica, Mason, Philip J.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2015
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4436374/
https://ncbi.nlm.nih.gov/pubmed/25992652
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0127414
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