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

Science Translational Medicine

Volumn 8, Issue 351, 2016, Pages

  Stanley, Susan E ^a   Gable, Dustin L ^a   Wagner, Christa L ^a   Carlile, Thomas M ^b   Hanumanthu, Vidya Sagar ^a   Podlevsky, Joshua D ^c   Khalil, Sara E ^a   De Zern, Amy E ^a,d   Rojas Duran, Maria F ^b   Applegate, Carolyn D ^a,d   Alder, Jonathan K ^a   Parry, Erin M ^a   Gilbert, Wendy V ^b   Armanios, Mary ^a,d  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c ARIZONA STATE UNIVERSITY   (United States)

^d JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CRISPR ASSOCIATED PROTEIN; GENOMIC DNA; NAF1 PROTEIN; PROTEIN; RIBOSOME RNA; RNA; SMALL NUCLEOLAR RNA; TELOMERASE; UNCLASSIFIED DRUG; UNTRANSLATED RNA; CARRIER PROTEIN; NAF1 PROTEIN, HUMAN; NERVE PROTEIN; NOXP70 PROTEIN, MOUSE; RIBONUCLEOPROTEIN; TELOMERASE RNA;

ALLELE; ARTICLE; BIOGENESIS; CARBOXY TERMINAL SEQUENCE; CHRONIC OBSTRUCTIVE LUNG DISEASE; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAPLOINSUFFICIENCY; HOMEOSTASIS; HUMAN; LUNG EMPHYSEMA; LUNG FIBROSIS; MOUSE; MYELODYSPLASTIC SYNDROME; NONHUMAN; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; TELOMERE HOMEOSTASIS; ANIMAL; C57BL MOUSE; EMPHYSEMA; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; IMMUNOBLOTTING; KNOCKOUT MOUSE; MUTATION; TELOMERE;

ANIMALS; CARRIER PROTEINS; EMPHYSEMA; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOBLOTTING; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION; NERVE TISSUE PROTEINS; PULMONARY FIBROSIS; RIBONUCLEOPROTEINS; RNA; TELOMERASE; TELOMERE;

EID: 84983427611     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aaf7837     Document Type: Article

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