Article
Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.
Aging cell - 1 Jun 2007
Westin Erik R, Chavez Elizabeth, Lee Kimberly M, Gourronc Francoise A, Riley Soraya, Lansdorp Peter M, Goldman Frederick D, Klingelhutz Aloysius J
Abstract excerpt
Dyskeratosis congenita (DC), an inherited bone marrow failure syndrome, is caused by defects in telomerase. Somatic cells from DC patients have shortened telomeres and clinical symptoms are most pronounced in organs with a high cell turnover, including those involved in hematopoiesis and skin function. We previously identified an autosomal dominant (AD) form of DC that is caused by mutations in the telomerase RNA...
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