Short CommunicationGenomic Organization of the ATM Gene
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Cited by (146)
Emerging small-molecule inhibitors of ATM kinase targeting cancer therapy
2022, Protein Kinase Inhibitors: From Discovery to TherapeuticsDNA damage and repair in individuals with ataxia-telangiectasia and their parents
2018, Mutation Research - Genetic Toxicology and Environmental MutagenesisCitation Excerpt :In addition to DNA repair and regulation of the checkpoints, there is evidence of the involvement of the protein in antioxidant processes [13]. Clinical and cellular ionizing radiation sensitivity in patients with AT was demonstrated in different studies, with lethal effects [10]. Currently, reports of hypersensitivity extend to bleomycin and other agents that induce DSBs.
Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women: A meta-analysis
2017, Egyptian Journal of Medical Human GeneticsCitation Excerpt :The ATM gene, located on human chromosome 11q22.3-23.1, extends over 150 kb of genomic DNA composed of 66 exons, giving rise to a transcript of approximately 13 kb that contains an open reading frame (ORF). It has been reported to be involved in numerous damage repair signaling pathways and cell-cycle checkpoints [6,17–20]. Loss of heterozygosity in the region of the ATM gene has been detected in approximately 40% of human sporadic breast tumors [21–25].
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis
2017, Journal of the Neurological SciencesAtaxia-telangiectasia (A-T): An emerging dimension of premature ageing
2017, Ageing Research Reviews