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- W4211035249 endingPage "54" @default.
- W4211035249 startingPage "37" @default.
- W4211035249 abstract "The RECQ family of DNA helicases is a conserved group of enzymes that plays an important role in maintaining genomic stability. Humans possess five RECQ helicase genes, and mutations in three of them – BLM, WRN, and RECQL4 – are associated with the genetic disorders Bloom syndrome, Werner syndrome, and Rothmund-Thomson syndrome (RTS), respectively. These syndromes share overlapping clinical features, and importantly they are all associated with an increased risk of cancer. Patients with RTS have the highest specific risk of developing osteosarcoma compared to all other cancer predisposition syndromes; therefore, RTS serves as a relevant model to study the pathogenesis and molecular genetics of osteosarcoma. The “tumor suppressor” function of the RECQ helicases continues to be an area of active investigation. This chapter will focus primarily on the known cellular functions of RECQL4 and how these may relate to tumorigenesis, as well as ongoing efforts to understand RECQL4’s functions in vivo using animal models. Understanding the RECQ pathways will provide insight into avenues for novel cancer therapies in the future." @default.
- W4211035249 created "2022-02-13" @default.
- W4211035249 creator A5043979648 @default.
- W4211035249 creator A5045649756 @default.
- W4211035249 creator A5067810544 @default.
- W4211035249 date "2020-01-01" @default.
- W4211035249 modified "2023-09-25" @default.
- W4211035249 title "RECQ DNA Helicases and Osteosarcoma" @default.
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