The DOI matches its Crossref record; 187 of the 187 references it cites were found in a registry or an index.
DNA Strand Break Repair and Human Genetic Disease
Abstract
Each day tens of thousands of DNA single-strand breaks (SSBs) arise in every cell from the attack of deoxyribose and DNA bases by reactive oxygen species and other electrophilic molecules. DNA double-strand breaks (DSBs) also arise, albeit at a much lower frequency, from similar attacks and from the encounter of unrepaired SSBs and possibly other DNA structures by DNA replication forks. DSBs are also created during normal development of the immune system. Defects in the cellular response to DNA strand breaks underpin many human diseases, including disorders associated with cancer predisposition, immune dysfunction, radiosensitivity, and neurodegeneration. Here we provide an overview of the genetic diseases associated with defects in the repair/response to DNA strand breaks.
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Cited by
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The RIDDLE Syndrome Protein Mediates a Ubiquitin-Dependent Signaling Cascade at Sites of DNA Damage
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Metadata
- Authors
- McKinnon, P. J., & Caldecott, K. W.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2007-09-01
- Volume
- 8
- Issue
- 1
- Pages
- 37-55
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2147477441
- Cited by
- 305
- References
- 187
- FWCI
- 1.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: DNA Strand Break Repair and Human Genetic Disease. https://app.cochat.ai/papers/10.1146/annurev.genom.7.080505.115648
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- McKinnon, P. J., & Caldecott, K. W. (2007). DNA Strand Break Repair and Human Genetic Disease. Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev.genom.7.080505.115648
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
