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Cited by 229

The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders

Mohaghegh, P.·2001·Human Molecular Genetics

Abstract

Deficiency in a helicase of the RecQ family is found in at least three human genetic disorders associated with cancer predisposition and/or premature ageing. The RecQ helicases encoded by the BLM, WRN and RECQ4 genes are defective in Bloom's, Werner's and Rothmund-Thomson syndromes, respectively. Cells derived from individuals with these disorders in each case show inherent genomic instability. Recent studies have demonstrated direct interactions between these RecQ helicases and human nuclear proteins required for several aspects of chromosome maintenance, including p53, BRCA1, topoisomerase III, replication protein A and DNA polymerase delta. Here, we review this network of protein interactions, and the clues that they present regarding the potential roles of RecQ family members in DNA repair, replication and/or recombination pathways.

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Metadata

Authors
Mohaghegh, P.
Venue
Human Molecular Genetics
Published
2001-04-01
Volume
10
Issue
7
Pages
741-746
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2159310233
Cited by
229
References
2
FWCI
9.88
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. https://app.cochat.ai/papers/10.1093/hmg/10.7.741
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Mohaghegh, P. (2001). DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. Human Molecular Genetics. https://doi.org/10.1093/hmg/10.7.741

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.