Abstract:
:The importance of telomere function for human health is exemplified by a collection of Mendelian disorders referred to as the telomere biology disorders (TBDs), telomeropathies, or syndromes of telomere shortening. Collectively, the TBDs cover a spectrum of conditions from multisystem disease presenting in infancy to isolated disease presentations in adulthood, most notably idiopathic pulmonary fibrosis. Eleven genes have been found mutated in the TBDs to date, each of which is linked to some aspect of telomere maintenance. This review summarizes the molecular defects that result from mutations in these genes, highlighting recent advances, including the addition of PARN to the TBD gene family and the discovery of heterozygous mutations in RTEL1 as a cause of familial pulmonary fibrosis.
journal_name
RNA Bioljournal_title
RNA biologyauthors
Bertuch AAdoi
10.1080/15476286.2015.1094596subject
Has Abstractpub_date
2016-08-02 00:00:00pages
696-706issue
8eissn
1547-6286issn
1555-8584journal_volume
13pub_type
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