Article
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema.
Science translational medicine - 10 Aug 2016
Stanley Susan E, Gable Dustin L, Wagner Christa L, Carlile Thomas M, Hanumanthu Vidya Sagar, Podlevsky Joshua D, Khalil Sara E, DeZern Amy E, Rojas-Duran Maria F, Applegate Carolyn D, Alder Jonathan K, Parry Erin M, Gilbert Wendy V, Armanios Mary
Abstract excerpt
Chronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA RNA biogenesis factor, in pulmonary fibrosis-emphysema patients. The mutations segregated with short telomere...
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