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- W2137261276 startingPage "7406" @default.
- W2137261276 abstract "There are at least three human diseases that are associated with germ-line mutations of the genes encoding the two essential components of telomerase, TERT and TERC . Heterozygous mutations of these genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopathic pulmonary fibrosis. In this review, we will detail the clinical similarities and difference of these diseases and review the molecular phenotypes observed. The spectrum of mutations in TERT and TERC varies for these diseases and may in part explain the clinical differences observed. Environmental insults and genetic modifiers that accelerate telomere shortening and increase cell turnover may exaggerate the effects of telomerase haploinsufficiency, contributing to the variability of age of onset as well as tissue-specific organ pathology. A central still unanswered question is whether telomerase dysfunction and short telomeres are a much more prominent factor than previously suspected in other adult-onset, age-related diseases. Understanding the biological effects of these mutations may ultimately lead to novel treatments for these patients." @default.
- W2137261276 created "2016-06-24" @default.
- W2137261276 creator A5018167935 @default.
- W2137261276 creator A5041335553 @default.
- W2137261276 creator A5081012778 @default.
- W2137261276 date "2007-11-26" @default.
- W2137261276 modified "2023-10-16" @default.
- W2137261276 title "Human diseases of telomerase dysfunction: insights into tissue aging" @default.
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