Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

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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

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Engineered telomere degradation models dyskeratosis congenita.

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by cutaneous symptoms, including hyperpigmentation and nail dystrophy. Some forms of DC are caused by mutations in telomerase, the enzyme that counteracts telomere shortening, suggesting a telomere-based disease mechanism. However, mice with extensively shortened telomeres due to telomerase deficiency do not ...

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Bone marrow skeletal stem/progenitor cell defects in patients with dyskeratosis congenita and telomere biology disorders

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ژورنال

عنوان ژورنال: Nature

سال: 2010

ISSN: 0028-0836,1476-4687

DOI: 10.1038/nature08792