Associated Papers
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_14.xlsx › Sheet1
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.
Pozzi E et al.
Scientific Reports, 2020
33214630 (PubMed )
Supplement: 41598_2020_77352_MOESM1_ESM.pdf
Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
van Os NJH et al.
Journal of Medical Genetics, 2019
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
Ataxia telangiectasia: more variation at clinical and cellular levels.
Taylor AM et al.
Clinical Genetics, 2015
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Cavalieri S et al.
Annals of Human Genetics, 2008
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Cavalieri S et al.
Human Mutation, 2006
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