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- Title
Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema.
- Authors
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
The article presents a study that identified mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA ribonucleic acid (RNA) biogenesis factor, in pulmonary fibrosis-emphysema patients. Topics discussed include results showing that rare variants in NAF1 segregate with short telomere phenotype and low telomerase RNA levels, a truncated NAF1 protein in mutation carriers and disease-associated NAF1 alleles are functionally deleterious.
- Subjects
GENETIC mutation; GENES; RNA; ORIGIN of life; PULMONARY fibrosis; PULMONARY emphysema; PATIENTS
- Publication
Science Translational Medicine, 2016, Vol 8, Issue 351, p1
- ISSN
1946-6234
- Publication type
Article
- DOI
10.1126/scitranslmed.aaf7837