The short and long telomere syndromes: paired paradigms for molecular medicine.

Curr Opin Genet Dev

Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States; McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States. Electronic address:

Published: August 2015

Recent advances have defined a role for abnormally short telomeres in a broad spectrum of genetic disorders. They include rare conditions such as dyskeratosis congenita as well pulmonary fibrosis and emphysema. Now, there is new evidence that some familial cancers, such as melanoma, are caused by mutations that lengthen telomeres. Here, we examine the significance of these short and long telomere length extremes for understanding the molecular basis of age-related disease and cancer.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741306PMC
http://dx.doi.org/10.1016/j.gde.2015.06.004DOI Listing

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