ReviewCellular and molecular life sciences : CMLS2012
Haploinsufficiency in mouse models of DNA repair deficiency: modifiers of penetrance.
Review in Cellular and molecular life sciences : CMLS, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.International journal of molecular sciences · 2024Review
- Excessive Folic Acid Mimics Folate Deficiency in Human Lymphocytes.Current issues in molecular biology · 2022Article
- Implication of DNA repair genes in Lynch-like syndrome.Familial cancer · 2019Article
- OGG1-initiated base excision repair exacerbates oxidative stress-induced parthanatos.Cell death & disease · 2018Article
- Development of a Cell-Based Assay for Measuring Base Excision Repair Responses.Scientific reports · 2017Article
- Production, Purification, and Characterization of ¹⁵N-Labeled DNA Repair Proteins as Internal Standards for Mass Spectrometric Measurements.Methods in enzymology · 2016Article
- Reduced Nuclease Activity of Apurinic/Apyrimidinic Endonuclease (APE1) Variants on Nucleosomes: IDENTIFICATION OF ACCESS RESIDUES.The Journal of biological chemistry · 2015Article
- Expanding the mammalian phenotype ontology to support automated exchange of high throughput mouse phenotyping data generated by large-scale mouse knockout screens.Journal of biomedical semantics · 2015Article
- Base excision repair capacity in informing healthspan.Carcinogenesis · 2014Review
- Mammalian base excision repair: the forgotten archangel.Nucleic acids research · 2013Review
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- Diseases associated with defective responses to DNA damage.Cold Spring Harbor perspectives in biology · 2012Review
- Folate and colorectal cancer in rodents: a model of DNA repair deficiency.Journal of oncology · 2012Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mouse models of DNA repair deficiency are useful tools for determining susceptibility to disease. Cancer predisposition and premature aging are commonly impacted by deficiencies in DNA repair, presumably as a function of reduced genomic fitness. In this review, a comprehensive analysis of all DNA repair mutant mouse models has been completed in order to assess the importance of haploinsufficiency for these genes. This analysis brings to light a clear role for haploinsufficiency in disease predisposition. Unfortunately, much of the data on heterozygous models are buried or underinvestigated. In light of a better understanding that the role of DNA repair haploinsufficiency may play in penetrance of other oncogenic or disease causing factors, it may be in the interest of human health and disease prevention to further investigate the phenotypes in many of these mouse models.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.