原创力文档telomere lengths, pulmonary fibrosis and telomerase (tert) mutations端粒长度,肺纤维化和端粒酶(叔)突变.pdfVIP
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telomere lengths, pulmonary fibrosis and telomerase (tert) mutations端粒长度,肺纤维化和端粒酶(叔)突变
Telomere Lengths, Pulmonary Fibrosis and Telomerase
(TERT) Mutations
1 1 3 4
Alberto Diaz de Leon , Jennifer T. Cronkhite , Anna-Luise A. Katzenstein , J. David Godwin , Ganesh
5 2 2 2 6 1
Raghu , Craig S. Glazer , Randall L. Rosenblatt , Carlos E. Girod , Edward R. Garrity , Chao Xing ,
Christine Kim Garcia1,2*
1 McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America, 2 Division of
Pulmonary and Critical Care Medicine, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America,
3 Department of Pathology, The State University of New York Upstate Medical University, Syracuse, New York, United States of America, 4 Department of Radiology,
University of Washington Medical Center, Seattle, Washington, United States of America, 5 Division of Pulmonary and Critical Care Medicine, Department of Internal
Medicine, University of Washington Medical Center, Seattle, Washington, United States of America, 6 Division of Pulmonary and Critical Care Medicine, Department of
Internal Medicine, University of Chicago, Chicago, Illinois, United States of America
Abstract
Background: Telomerase is an enzyme that catalyzes the addition of nucleotides on the ends of chromosomes. Rare loss of
function mutations in the gene that encodes the protein component of telomerase (TERT) have been described in patients
with idiopathic pulmonary fibrosis (IPF). Here we examine the telomere lengths and pulmonary fibrosis phenotype seen in
multiple kindreds with
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