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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...
Autores principales: | Gu, Bai-Wei, Apicella, Marisa, Mills, Jason, Fan, Jian-Meng, Reeves, Dara A., French, Deborah, Podsakoff, Gregory M., Bessler, Monica, Mason, Philip J. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436374/ https://www.ncbi.nlm.nih.gov/pubmed/25992652 http://dx.doi.org/10.1371/journal.pone.0127414 |
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