نتایج جستجو برای: recq

تعداد نتایج: 711  

Journal: :Biochemical Society transactions 2005
C F Cheok C Z Bachrati K L Chan C Ralf L Wu I D Hickson

The RecQ family of DNA helicases is highly conserved in evolution from bacteria to humans. Of the five known human RecQ family members, three (BLM, WRN and RECQ4, which cause Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome respectively) are mutated in distinct clinical disorders associated with cancer predisposition and/or premature aging. BLM forms part of a multienzyme compl...

Journal: :The EMBO journal 2009
Xiaohua Xu Yilun Liu

Human RECQ helicases have been linked to distinct clinical diseases with increased cancer rates and premature ageing. All RECQ proteins, except RECQ4, have been shown to be functional helicases. Mutations in RECQ4 lead to Rothmund-Thomson syndrome (RTS), and mouse models reveal that the conserved helicase motifs are required for avoidance of RTS. Furthermore, the amino (N) terminus of RECQ4 sha...

2009
Tobias Dietschy Igor Shevelev Javier Pena-Diaz Daniela Hühn Sandra Kuenzle Raymond Mak Mohammad Fahad Miah Daniel Hess Monika Fey Michael O. Hottiger Pavel Janscak Igor Stagljar

Introduction Genome instability plays a major role in the development and progression of cancer. All organisms have developed pathways to mitigate DNA damage by employing enzymes that are involved in all DNA metabolic processes, including replication, recombination and repair (Tuteja and Tuteja, 2001). The fundamental importance of these enzymes, such as DNA helicases and acetyltransferases, is...

2010
Adam D. Brown Alison B. Claybon Alexander J. R. Bishop

Werner syndrome is a rare disorder that manifests as premature aging and age-related diseases. WRN is the gene mutated in WS, and is one of five human RecQ helicase family members. WS cells exhibit genomic instability and altered proliferation, and in vitro studies suggest that WRN has a role in suppressing homologous recombination. However, more recent studies propose that other RecQ helicases...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

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