This pattern implies that in these patients, it is not the telomerase mutation itself but the short telomeres that determine the severity of the disease.14,24,26
Implicating short telomeres (TBD) is the underlying mechanism of disease
4 Matching Annotations
- Oct 2026
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www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
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www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
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Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase
PMID 21436073
Diesease Bone marrow failure linked to pulmonary fibrosis
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www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
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Telomerase and Idiopathic Pulmonary Fibrosis
PMID 22079513
Disease Idiopathic pulmonary fibrosis
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The consequences of telomerase deficiency were studied in model organisms before telomerase mutations were discovered in the setting of human disease[18, 19]
Animal Models telomerase deficiency was studied in mouse models prior to their discovery in association with human disease, with dyskeratosis congenita being the first to be associated with TBD
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