The DOI matches its Crossref record; 8 of the 8 references it cites were found in a registry or an index.
THE GENETIC DEFECT IN ATAXIA-TELANGIECTASIA
Abstract
▪ Abstract The autosomal recessive human disorder ataxia-telangiectasia (A-T) was first described as a separate disease entity 40 years ago. It is a multisystem disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, radiosensitivity, predisposition to lymphoid malignancies and immunodeficiency, with defects in both cellular and humoral immunity. The pleiotropic nature of the clinical and cellular phenotype suggests that the gene product involved is important in maintaining stability of the genome but also plays a more general role in signal transduction. The chromosomal instability and radiosensitivity so characteristic of this disease appear to be related to defective activation of cell cycle checkpoints. Greater insight into the nature of the defect in A-T has been provided by the recent identification, by positional cloning, of the responsible gene, ATM. The ATM gene is related to a family of genes involved in cellular responses to DNA damage and/or cell cycle control. These genes encode large proteins containing a phosphatidylinositol 3-kinase domain, some of which have protein kinase activity. The mutations causing A-T completely inactivate or eliminate the ATM protein. This protein has been detected and localized to different subcellular compartments.
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A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase
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Self-citationDefective repair replication of DNA in xeroderma pigmentosum
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Isolation of a Protein Target of the FKBP12-Rapamycin Complex in Mammalian Cells
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Regulation of RAD53 by the ATM -Like Kinases MEC1 and TEL1 in Yeast Cell Cycle Checkpoint Pathways
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Activation of the ATM Kinase by Ionizing Radiation and Phosphorylation of p53
Canman, C. E., Lim, D.-S., Cimprich, K. A., Taya, Y., Tamai, K., Sakaguchi, K., Appella, E., Kastan, M. B., & Siliciano, J. D. (1998) · Science · doi:10.1126/science.281.5383.1677 · Cited by 2,042
Enhanced Phosphorylation of p53 by ATM in Response to DNA Damage
Banin, S., Moyal, L., Shieh, S.-Y., Taya, Y., Anderson, C. W., Chessa, L., Smorodinsky, N. I., Prives, C., Reiss, Y., Shiloh, Y., et al. (1998) · Science · doi:10.1126/science.281.5383.1674 · Cited by 1,797
Self-citationPost-translational modification of p53 in tumorigenesis
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p53- and ATM-Dependent Apoptosis Induced by Telomeres Lacking TRF2
Karlseder, J., Broccoli, D., Dai, Y., Hardy, S., & de Lange, T. (1999) · Science · doi:10.1126/science.283.5406.1321 · Cited by 1,086
Metadata
- Authors
- Lavin, M. F., & Shiloh, Y.
- Venue
- Annual Review of Immunology
- Publisher
- Annual Reviews
- Published
- 1997-04
- Volume
- 15
- Issue
- 1
- Pages
- 177-202
- ISSN
- 0732-0582 (ISSN-L)
- 1545-3278
- OpenAlex
- W2172192445
- Cited by
- 643
- References
- 8
- FWCI
- 3.09
- Type
- journal article
- Language
- en
- Open access
- closed
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- Lavin, M. F., & Shiloh, Y. (1997). THE GENETIC DEFECT IN ATAXIA-TELANGIECTASIA. Annual Review of Immunology. https://doi.org/10.1146/annurev.immunol.15.1.177
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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