Associated Papers
Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.
Hrudka J et al.
International Journal of Molecular Sciences, 2024
38542259 (PubMed )
Supplement: ijms-25-03285-s001.zip › ijms-2897629-supplementary.xlsx › ID2
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
ATM Germline-Mutated Gastroesophageal Junction Adenocarcinomas: Clinical Descriptors, Molecular Characteristics, and Potential Therapeutic Implications.
El Jabbour T et al.
Journal of the National Cancer Institute, 2022
Functional classification of ATM variants in ataxia-telangiectasia patients.
Fiévet A et al.
Human Mutation, 2019
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
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A et al.
The Journal of Clinical Investigation, 2013
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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