Telomerase mutations and the pulmonary fibrosis-bone marrow failure syndrome complex

New England Journal of Medicine

Volumn 367, Issue 4, 2012, Pages 384-

  Armanios, Mary ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

TELOMERASE; TELOMERASE REVERSE TRANSCRIPTASE;

BONE MARROW DEPRESSION; BONE MARROW TRANSPLANTATION; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; FIBROSING ALVEOLITIS; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; LETTER; LUNG TRANSPLANTATION; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; TELOMERASE GENE;

EID: 84864253263     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc1206730     Document Type: Letter

References (5)

1. Armanios M. Telomerase and idiopathic pulmonary fibrosis. Mutat Res 2012;730:52-8.
2. Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005;352:1413-24. (Pubitemid 40471449)
3. Armanios MY, Chen JJ-L, Cogan JD, et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007;356:1317-26. (Pubitemid 46513297)
4. Parry EM, Alder JK, Qi X, Chen JJ, Armanios M. Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase. Blood 2011;117:5607-11.
5. Gansner JM, Rosas IO, Ebert BL. Pulmonary fibrosis, bone marrow failure, and telomerase mutation. N Engl J Med 2012;366:1551-3.