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- W2068341767 abstract "The RecQ family of DNA helicases have potential roles in DNA repair, replication and/or recombination pathways. In humans, a defect in the RecQ family helicases encoded by the BLM, WRN and RECQ4 genes gives rise to Bloom’s (BS), Werner’s (WS) and Rothmund–Thomson (RTS) syndromes, respectively. These disorders are associated with cancer predisposition and/or premature aging. In Bloom’s syndrome, affected individuals are predisposed to many types of cancer at an early age. Werner’s syndrome is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis. The phenotype of Rothmund–Thomson syndrome patients also consists of some features associated with premature aging, as well as predispositon to certain cancers. Here, we discuss the molecular basis of these RecQ helicase-deficient disorders." @default.
- W2068341767 created "2016-06-24" @default.
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- W2068341767 date "2002-11-01" @default.
- W2068341767 modified "2023-10-10" @default.
- W2068341767 title "Premature aging in RecQ helicase-deficient human syndromes" @default.
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- W2068341767 doi "https://doi.org/10.1016/s1357-2725(02)00039-0" @default.
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