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Ataxia telangiectasia mutated gene

Ataxia telangiectasia Mutation in gene on chromosome 11, which codes for protein involved in signal transduction, DNA repair, and control of cell cycle. Defect in cell-mediated immunity. Cerebral ataxia and telangiectasias are hallmarks. [Pg.259]

Individuals with the hereditary disorder ataxia telangiectasia suffer from neurodegeneration, immunodeficiency, and increased incidence of cancer. The genetic basis for ataxia telangiectasia is a loss-of-function mutation in the ATM gene (ATM = ataxia telangiectasia-mutated). Name two substrates of ATM. How does the phosphorylation of these substrates lead to inactivation of CDKs to enforce cell cycle arrest at a checkpoint ... [Pg.895]

See other pages where Ataxia telangiectasia mutated gene is mentioned: [Pg.203]    [Pg.203]    [Pg.312]    [Pg.352]    [Pg.743]    [Pg.338]    [Pg.203]    [Pg.203]    [Pg.312]    [Pg.352]    [Pg.743]    [Pg.338]    [Pg.319]    [Pg.1260]    [Pg.68]    [Pg.332]    [Pg.1585]    [Pg.249]    [Pg.532]    [Pg.319]    [Pg.1260]    [Pg.320]    [Pg.651]    [Pg.43]    [Pg.105]    [Pg.352]    [Pg.114]    [Pg.127]    [Pg.196]    [Pg.203]    [Pg.229]    [Pg.328]    [Pg.182]    [Pg.574]    [Pg.40]    [Pg.574]    [Pg.493]    [Pg.179]    [Pg.92]    [Pg.102]    [Pg.594]    [Pg.102]    [Pg.122]    [Pg.196]    [Pg.291]    [Pg.478]    [Pg.588]   


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Ataxia

Ataxia telangiectasia

Ataxia telangiectasia-mutated

Gene mutations

Mutator gene

Telangiectasia

Telangiectasias

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