Associated Papers
A framework for individualized splice-switching oligonucleotide therapy.
Kim J et al.
Nature, 2023
37438524 (PubMed )
Supplement: 41586_2023_6277_MOESM4_ESM.xlsx › S_Table_1
Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions.
Guglielmi C et al.
International Journal of Molecular Sciences, 2021
Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.
Pritchard AL et al.
Plos One, 2018
29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AR
Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks.
Nayler SP et al.
Frontiers in Cellular Neuroscience, 2017
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
A patient-derived olfactory stem cell disease model for ataxia-telangiectasia.
Stewart R et al.
Human Molecular Genetics, 2013
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A et al.
The Journal of Clinical Investigation, 2013
Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation.
Honda M et al.
Leukemia, 2009
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.
Magliozzi M et al.
Disease Markers, 2006
DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells.
Delia D et al.
Oncogene, 2003
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.
Saviozzi S et al.
Human Mutation, 2003
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast.
Tsuchida R et al.
Radiation Research, 2002
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes.
Delia D et al.
British Journal of Cancer, 2000
Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations.
Shigeta T et al.
Cancer Research, 1999
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