title: The telomere syndromes.
abstract: There has been mounting evidence of a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes. We also discuss their underlying molecular mechanisms and significance for understanding common age-related disease processes.
authors.affiliation: Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. marmani1@jhmi.edu
authors.forename: Mary
authors.initials: M
authors.lastname: Armanios
authors.forename: Elizabeth H
authors.initials: EH
authors.lastname: Blackburn
mesh_terms: D000818:Animals; D056726:Genetic Association Studies; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008954:Models, Biological; D019655:Quantitative Trait, Heritable; D013577:Syndrome; D016615:Telomere / Q000235:genetics* / Q000378:metabolism / Q000473:pathology / Q000502:physiology