ArticleAmerican journal of human genetics1996
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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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Who cites it
28 citing papers in PubMed, 81 citations in OpenAlex.
- Recent Advances in Therapy for the Neurodegenerative Disorder Ataxia-Telangiectasia.International journal of molecular sciences · 2026Review
- 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
- The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force.Cerebellum (London, England) · 2019Review
- Orange is the new black: Kinases are the new master regulators of tumor suppression.IUBMB life · 2019Review
- Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family.Molecular medicine reports · 2019Article
- A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.Journal of clinical neurology (Seoul, Korea) · 2018Article
- A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.Iranian journal of child neurology · 2018Article
- Systematic review of autosomal recessive ataxias and proposal for a classification.Cerebellum & ataxias · 2017Review
- Infection of a Single Cell Line with Distinct Strains of Human Cytomegalovirus Can Result in Large Variations in Virion Production and Facilitate Efficient Screening of Virus Protein Function.Journal of virology · 2015Article
- Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.Neuromolecular medicine · 2013Article
- Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.European journal of human genetics : EJHG · 2012Article
- New mutations in the ATM gene and clinical data of 25 AT patients.Neurogenetics · 2011Article
- Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.Neuromolecular medicine · 2011Article
- ATM haplotypes and associated mutations in Iranian patients with ataxia-telangiectasia: recurring homozygosity without a founder haplotype.Human genetics · 2005Article
- Gene expression phenotype in heterozygous carriers of ataxia telangiectasia.American journal of human genetics · 2002Article
- Ataxia telangiectasia gene mutations in leukaemia and lymphoma.Journal of clinical pathology · 2001Review
- X-irradiation induces up-regulation of ATM gene expression in wild-type lymphoblastoid cell lines, but not in their heterozygous or homozygous ataxia-telangiectasia counterparts.Japanese journal of cancer research : Gann · 2001Article
- UV-induced hyperphosphorylation of replication protein a depends on DNA replication and expression of ATM protein.Molecular biology of the cell · 2001Article
- Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.Clinical and experimental immunology · 2001Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increased risk for malignancy, possibly as a consequence of radiation exposure. A gene mutated in AT patients (ATM) has recently been isolated, making mutation screening in both patients and the general population possible. Because of the relatively large size of the ATM gene, the design of screening programs will depend on the types and distribution of mutations in the general population. In this report, we describe 30 mutations identified in a panel of unrelated AT patients and controls. Twenty-five of the 30 were distinct, and most patients were compound heterozygotes. The most frequently detected mutation was found in three different families and had previously been reported in five others. This corresponds to a frequency of 8% of all reported ATM mutations. Twenty-two of the alterations observed would be predicted to lead to protein truncation at sites scattered throughout the molecule. Two fibroblast cell lines, which displayed normal responses to ionizing radiation, also proved to be heterozygous for truncation mutations of ATM. These observations suggest that the carrier frequency of ATM mutations may be sufficiently high to make population screening practical. However, such screening may need to be done prospectively, that is, by searching for new mutations rather than by screening for just those already identified in AT families.
Indexed as
Identifiers
8808599PMC1914811W1493323052What 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.