Article
Telomerase mutations in smokers with severe emphysema.
The Journal of clinical investigation - 1 Feb 2015
Stanley Susan E, Chen Julian J L, Podlevsky Joshua D, Alder Jonathan K, Hansel Nadia N, Mathias Rasika A, Qi Xiaodong, Rafaels Nicholas M, Wise Robert A, Silverman Edwin K, Barnes Kathleen C, Armanios Mary
Abstract excerpt
Mutations in the essential telomerase genes TERT and TR cause familial pulmonary fibrosis; however, in telomerase-null mice, short telomeres predispose to emphysema after chronic cigarette smoke exposure. Here, we tested whether telomerase mutations are a risk factor for human emphysema by examining their frequency in smokers with chronic obstructive pulmonary disease (COPD). Across two independent cohorts, we...
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