• Mutation; HGNC; HGNC:795; ATM; Simple; p.Lys2756Ter (c.8266A>T); ClinVar=VCV000135780; Zygosity=Heterozygous (PubMed=9150358).
  

PubMed=7433105; DOI=10.1093/nar/8.16.3709; PMCID=PMC324185
Houldsworth J., Lavin M.F.
Effect of ionizing radiation on DNA synthesis in ataxia telangiectasia cells.
Nucleic Acids Res. 8:3709-3720(1980)

PubMed=6197197; DOI=10.1016/0009-2797(83)90167-9
Imray F.P., Kidson C.
Responses of Huntington's disease and ataxia telangiectasia lymphoblastoid cells to bleomycin.
Chem. Biol. Interact. 47:325-336(1983)

PubMed=6228733; DOI=10.1016/0167-8817(83)90030-5
Imray F.P., Kidson C.
Perturbations of cell-cycle progression in gamma-irradiated ataxia telangiectasia and Huntington's disease cells detected by DNA flow cytometric analysis.
Mutat. Res. 112:369-382(1983)

PubMed=6504056; DOI=10.1016/0027-5107(84)90149-0
Chen P., Imray F.P., Kidson C.
Gene dosage and complementation analysis of ataxia telangiectasia lymphoblastoid cell lines assayed by induced chromosome aberrations.
Mutat. Res. 129:165-172(1984)

PubMed=2825700; DOI=10.1016/0006-291X(87)91629-9
Mohamed R., Singh S.P., Kumar S., Lavin M.F.
A defect in DNA topoisomerase II activity in ataxia-telangiectasia cells.
Biochem. Biophys. Res. Commun. 149:233-238(1987)

PubMed=2836804; DOI=10.1093/nar/16.9.3919; PMCID=PMC336565
Singh S.P., Mohamed R., Salmond C., Lavin M.F.
Reduced DNA topoisomerase II activity in ataxia-telangiectasia cells.
Nucleic Acids Res. 16:3919-3929(1988)

PubMed=8808599; PMCID=PMC1914811
Wright J., Teraoka S., Onengut S., Tolun A., Gatti R.A., Ochs H.D., Concannon P.
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.
Am. J. Hum. Genet. 59:839-846(1996)

PubMed=9150358; DOI=10.1038/sj.onc.1201037
Watters D., Khanna K.K., Beamish H.J., Birrell G.W., Spring K., Kedar P., Gatei M., Stenzel D., Hobson K., Kozlov S.V., Zhang N., Farrell A., Ramsay J., Gatti R.A., Lavin M.F.
Cellular localisation of the ataxia-telangiectasia (ATM) gene product and discrimination between mutated and normal forms.
Oncogene 14:1911-1921(1997)

PubMed=9168117; DOI=10.1038/387520a0
Shafman T., Khanna K.K., Kedar P., Spring K., Kozlov S.V., Yen T.J., Hobson K., Gatei M., Zhang N., Watters D., Egerton M., Shiloh Y., Kharbanda S., Kufe D.W., Lavin M.F.
Interaction between ATM protein and c-Abl in response to DNA damage.
Nature 387:520-523(1997)

PubMed=11080496; DOI=10.1074/jbc.M006190200
Gueven N., Keating K.E., Chen P., Fukao T., Khanna K.K., Watters D., Rodemann P.H., Lavin M.F.
Epidermal growth factor sensitizes cells to ionizing radiation by down-regulating protein mutated in ataxia-telangiectasia.
J. Biol. Chem. 276:8884-8891(2001)