Role of the Bloom's syndrome helicase in maintenance of genome stability.
dc.contributor.author | Hickson, ID | en |
dc.contributor.author | Davies, SL | en |
dc.contributor.author | Li, JL | en |
dc.contributor.author | Levitt, NC | en |
dc.contributor.author | Mohaghegh, P | en |
dc.contributor.author | North, PS | en |
dc.contributor.author | Wu, L | en |
dc.date.accessioned | 2017-11-27T18:39:28Z | |
dc.date.available | 2017-11-27T18:39:28Z | |
dc.date.issued | 2001-05 | en |
dc.identifier.issn | 0300-5127 | en |
dc.identifier.uri | http://hdl.handle.net/10026.1/10322 | |
dc.description.abstract |
The RecQ family of DNA helicases has members in all organisms analysed. In humans, defects in three family members are associated with disease conditions: BLM is defective in Bloom's syndrome, WRN in Werner's syndrome and RTS in Rothmund-Thomson syndrome. In each case, cells from affected individuals show inherent genomic instability. The focus of our work is the Bloom's syndrome gene and its product, BLM. Here, we review the latest information concerning the roles of BLM in the maintenance of genome integrity. | en |
dc.format.extent | 201 - 204 | en |
dc.language.iso | en | en |
dc.subject | Adenosine Triphosphatases | en |
dc.subject | Bloom Syndrome | en |
dc.subject | Chromosome Aberrations | en |
dc.subject | DNA Helicases | en |
dc.subject | Genome, Human | en |
dc.subject | Humans | en |
dc.subject | Phenotype | en |
dc.subject | Protein Binding | en |
dc.subject | Protein Structure, Tertiary | en |
dc.subject | Protein Transport | en |
dc.subject | RecQ Helicases | en |
dc.subject | Recombination, Genetic | en |
dc.title | Role of the Bloom's syndrome helicase in maintenance of genome stability. | en |
dc.type | Conference Contribution | |
plymouth.author-url | https://www.ncbi.nlm.nih.gov/pubmed/11356154 | en |
plymouth.issue | Pt 2 | en |
plymouth.volume | 29 | en |
plymouth.publication-status | Published | en |
plymouth.journal | Biochem Soc Trans | en |
dc.identifier.doi | 10.1042/0300-5127:0290201 | en |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine/UoA01 Clinical Medicine | |
dc.publisher.place | England | en |
dc.rights.embargoperiod | Not known | en |
rioxxterms.versionofrecord | 10.1042/0300-5127:0290201 | en |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | en |
rioxxterms.type | Conference Paper/Proceeding/Abstract | en |