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

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Bai-Wei Gu; Marisa Apicella; Jason Mills; Jian-Meng Fan; Dara A Reeves; Deborah French; Gregory M Podsakoff; Monica Bessler; Philip J Mason;
  • Publisher: Public Library of Science (PLoS)
  • Journal: PLoS ONE,volume 10,issue 5 (issn: 1932-6203, eissn: 1932-6203)
  • Related identifiers: doi: 10.1371/journal.pone.0127414, pmc: PMC4436374
  • Subject: Q | R | Research Article | Science | Medicine

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... View more