Ontology highlight
ABSTRACT:
SUBMITTER: Stanley SE
PROVIDER: S-EPMC5351811 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Stanley Susan E SE Gable Dustin L DL Wagner Christa L CL Carlile Thomas M TM Hanumanthu Vidya Sagar VS Podlevsky Joshua D JD Khalil Sara E SE DeZern Amy E AE Rojas-Duran Maria F MF Applegate Carolyn D CD Alder Jonathan K JK Parry Erin M EM Gilbert Wendy V WV Armanios Mary M
Science translational medicine 20160801 351
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 length, low telomerase RNA levels, and extrapulmonary manifestations including myelody ...[more]