ArticleNeurogenetics2011
New mutations in the ATM gene and clinical data of 25 AT patients.
Article in Neurogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis 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
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Pooled it
- Expanding the clinical spectrum of pediatric ataxia-telangiectasia: a case series of novel genetic variants, lupus vulgaris, and hyper-IgM phenotypes.Orphanet journal of rare diseases · 2025Article
- Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- MicroRNA dysregulation in ataxia telangiectasia.Frontiers in immunology · 2024Article
- Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.The Journal of pathology · 2022Article
- Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.Breast cancer research and treatment · 2022Article
- Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.Scientific reports · 2022Article
- Autosomal recessive adult onset ataxia.Journal of neurology · 2022Article
- Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia-Telangiectasia.Frontiers in genetics · 2022Article
- A combination of PARP and CHK1 inhibitors efficiently antagonizes MYCN-driven tumors.Oncogene · 2021Article
- Pathogenic ATM Mutations in Cancer and a Genetic Basis for Radiotherapeutic Efficacy.Journal of the National Cancer Institute · 2021Article
- Phenotypes and genotypes of the chromosomal instability syndromes.Translational pediatrics · 2016Review
- ATM gene mutations in sporadic breast cancer patients from Brazil.SpringerPlus · 2015Article
- Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Molecular genetics & genomic medicine · 2014Article
- Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia.Journal of clinical immunology · 2014Article
- Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia.Journal of neurology · 2013Article
- Loss of ATM kinase activity leads to embryonic lethality in mice.The Journal of cell biology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 12 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T>C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients.
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.