ReviewBlood2013
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions.
Review in Blood, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
102 citing papers in PubMed, 2 syntheses or guidelines pooled it, 199 citations in OpenAlex.
- ATM mutations in myelodysplastic neoplasms, acute myeloid leukemia, and myeloproliferative neoplasms: a systematic review.Medical oncology (Northwood, London, England) · 2026Pooled it
- Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.Frontiers in immunology · 2021Pooled it
- Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.Journal of clinical immunology · 2021Trial
- Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.Frontiers in immunology · 2019Trial
- Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study.Orphanet journal of rare diseases · 2015Trial
- Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications.International journal of molecular sciences · 2026Review
- Targeting the FNIP2-SERCA2b axis improves metabolic and mitochondrial defects in Ataxia Telangiectasia.Cell death & disease · 2026Article
- 5-Aminolevulinic Acid-Based Radiodynamic Therapy for Malignant Gliomas: A Conceptual Framework for Mitochondria-Centered Mechanisms, Target Cell States and Translational Perspectives.Life (Basel, Switzerland) · 2026Review
- Impact of Germline DNA Repair Mutations on Clonal Hematopoiesis and Myeloid Neoplasm Development.Current hematologic malignancy reports · 2025Review
- Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report.BMC medical genomics · 2025Article
- ATM deficiency drives phenotypic diversity and Purkinje cell degeneration in a macaque model of ataxia-telangiectasia.Cell reports. Medicine · 2025Article
- Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.Orphanet journal of rare diseases · 2025Article
- ATM knock out alters calcium signalling and augments contraction in skeletal muscle cells differentiated from human urine-derived stem cells.Cell death discovery · 2025Article
- Targeting Tumor Microenvironment Interactions in Chronic Lymphocytic Leukemia Using Leukotriene Inhibitors.International journal of molecular sciences · 2025Article
- Primary Malignant Melanoma of the Uterine Cervix with S100 (Protein Marker Seen in Women with Melanoma) Negative Status and Novel ATM Gene Mutation: Case Report and Literature Review.International journal of women's health · 2025Article
- Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment.Cerebellum (London, England) · 2024Article
- Variant ataxia telangiectasia identified during evaluation for short stature.BMJ case reports · 2024Article
- The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.International journal of molecular sciences · 2024Article
- Metformin and its potential influence on cell fate decision between apoptosis and senescence in cancer, with a special emphasis on glioblastoma.Frontiers in oncology · 2024Review
- Article
42 more citing papers are in PubMed but not listed here.
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 2 institutions in 2 countries.
Funding
Abstract
In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1. It was eventually cloned in 1995. Many independent laboratories have since demonstrated that in replicating cells, ataxia telangiectasia mutated (ATM) is predominantly a nuclear protein that is involved in the early recognition and response to double-stranded DNA breaks. ATM is a high-molecular-weight PI3K-family kinase. ATM also plays many important cytoplasmic roles where it phosphorylates hundreds of protein substrates that activate and coordinate cell-signaling pathways involved in cell-cycle checkpoints, nuclear localization, gene transcription and expression, the response to oxidative stress, apoptosis, nonsense-mediated decay, and others. Appreciating these roles helps to provide new insights into the diverse clinical phenotypes exhibited by A-T patients-children and adults alike-which include neurodegeneration, high cancer risk, adverse reactions to radiation and chemotherapy, pulmonary failure, immunodeficiency, glucose transporter aberrations, insulin-resistant diabetogenic responses, and distinct chromosomal and chromatin changes. An exciting recent development is the ATM-dependent pathology encountered in mitochondria, leading to inefficient respiration and energy metabolism and the excessive generation of free radicals that themselves create life-threatening DNA lesions that must be repaired within minutes to minimize individual cell losses.
Indexed as
Identifiers
What OpenQuestion holds
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.