ReviewThe application of clinical genetics2014
Ataxia-telangiectasia: future prospects.
Review in The application of clinical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 4 of them syntheses that pooled it.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 4 syntheses or guidelines pooled it, 59 citations in OpenAlex.
- Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.Frontiers in immunology · 2021Pooled it
- Association between ATM rs1801516 polymorphism and cancer susceptibility: a meta-analysis involving 12,879 cases and 18,054 controls.BMC cancer · 2018Pooled it
- Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology · 2016Pooled it
- Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.Genetic epidemiology · 2016Pooled it
- Are Selenium Status and Inflammation Linked to Cardiometabolic Risk Factors in Inborn Errors of Immunity?Nutrients · 2026Article
- Clinical challenges following early detection of ataxia telangiectasia through SCID newborn screening.Journal of human immunity · 2025Review
- Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.Current issues in molecular biology · 2025Review
- ATM Expression and Activation in Ataxia Telangiectasia Patients with and without Class Switch Recombination Defects.Journal of clinical immunology · 2025Article
- Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.Frontiers in neurology · 2024Article
- Ataxias: Hereditary, Acquired, and Reversible Etiologies.Seminars in neurology · 2023Article
- Cancer Cells Haploinsufficient for ATM Are Sensitized to PARP Inhibitors byInternational journal of molecular sciences · 2022Article
- Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients.Journal of clinical immunology · 2022Article
- The nucleoplasmic interactions among Lamin A/C-pRB-LAP2α-E2F1 are modulated by dexamethasone.Scientific reports · 2021Article
- Cutaneous and systemic granulomatosis in ataxia-telangiectasia: a clinico-pathological study.Postepy dermatologii i alergologii · 2020Article
- Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report.World journal of clinical cases · 2020Article
- Accumulation of Cytoplasmic DNA Due to ATM Deficiency Activates the Microglial Viral Response System with Neurotoxic Consequences.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019Article
- Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.PloS one · 2018Article
- Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors.Frontiers in immunology · 2018Article
- Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients.World journal of pediatrics : WJP · 2017Article
- Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.The American journal of case reports · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutation in the ataxia-telangiectasia mutated gene (ATM). ATM is a large serine/threonine protein kinase, a member of the phosphoinositide 3-kinase-related protein kinase (PIKK) family whose best-studied function is as master controller of signal transduction for the DNA damage response (DDR) in the event of double strand breaks (DSBs). The DDR rapidly recognizes DNA lesions and initiates the appropriate cellular programs to maintain genome integrity. This includes the coordination of cell-cycle checkpoints, transcription, translation, DNA repair, metabolism, and cell fate decisions, such as apoptosis or senescence. DSBs can be generated by exposure to ionizing radiation (IR) or various chemical compounds, such as topoisomerase inhibitors, or can be part of programmed generation and repair of DSBs via cellular enzymes needed for the generation of the antibody repertoire as well as the maturation of germ cells. AT patients have immunodeficiency, and are sterile with gonadal dysgenesis as a result of defect in meiotic recombination. In the cells of nervous system ATM has additional role in vesicle dynamics as well as in the maintenance of the epigenetic code of histone modifications. Moderate levels of ATM are associated with prolonged lifespan through resistance to oxidative stress. ATM inhibitors are being viewed as potential radiosensitizers as part of cancer radiotherapy. Though there is no cure for the disease at present, glucocorticoids have been shown to induce alternate splicing site in the gene for ATM partly restoring its activity, but their most effective timing in the disease natural history is not yet known. Gene therapy is promising but large size of the gene makes it technically difficult to be delivered across the blood-brain barrier at present. As of now, apart from glucocorticoids, use of histone deacetylase inhibitors/EZH2 to minimize effect of the absence of ATM, looks more promising.
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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.