Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis

Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis–emphysema

Published:2016-08-10 Issue:351 Volume:8 Page:
ISSN:1946-6234
Container-title:Science Translational Medicine
language:en
Short-container-title:Sci. Transl. Med.

Author:

Stanley Susan E.¹²,Gable Dustin L.¹²,Wagner Christa L.¹,Carlile Thomas M.³,Hanumanthu Vidya Sagar¹,Podlevsky Joshua D.⁴,Khalil Sara E.¹,DeZern Amy E.¹⁵⁶,Rojas-Duran Maria F.³,Applegate Carolyn D.¹⁶⁷,Alder Jonathan K.¹,Parry Erin M.¹⁵,Gilbert Wendy V.³,Armanios Mary¹⁶⁷

Affiliation:

1. Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

2. Medical Scientist Training Program, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

3. Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.

4. Department of Chemistry and Biochemistry, Arizona State University, Tempe, AZ 85277, USA.

5. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

6. Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

7. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

Abstract

Mutations in the RNA biogenesis factor NAF1 cause short telomeres and, consequently, age-related lung disease in people.

Funder

NIH

Commonwealth Foundation

American Cancer Society

Robbie Sue Mudd Kidney Cancer Research Scholar

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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