Wentworth
Institute of Technology
Molecular mechanisms of ataxia telangiectasia /
Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although...
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| Format: | Electronic eBook |
| Language: | English |
| Published: |
Boca Raton, FL :
CRC Press, an imprint of Taylor and Francis,
2009.
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| Edition: | First edition. |
| Subjects: | |
| Online Access: |
Full text (WIT users only) |
MARC
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| 245 | 1 | 0 | |a Molecular mechanisms of ataxia telangiectasia / |c by Shamim I. Ahmad. |
| 250 | |a First edition. | ||
| 264 | 1 | |a Boca Raton, FL : |b CRC Press, an imprint of Taylor and Francis, |c 2009. | |
| 300 | |a 1 online resource (132 pages) : |b 24 illustrations | ||
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| 505 | 0 | |a chapter 1 Clinical Features of AtaxiaTelangiectasia -- chapter 2 Mutations in the Ataxia Telangiectasia Mutated (ATM ) G ene -- chapter 3 Cell Signaling in Ataxia Telangiectasia -- chapter 4 DNA Damage and Repair in Ataxia Telangiectasia -- chapter 5 Protein-Protein Interactions in Ataxia Telangiectasia -- chapter 6 Chromosomal Instability in Ataxia Telangiectasia -- chapter 7 Cell Cycle Defects and Apoptosis in Ataxia Telangiectasia -- chapter 8 Ataxia Telangiectasia: An Oxidative Stress-Related Disease -- chapter 9 Oncogenesis in Ataxia Telangectasia: Roles of ATM, p53, NF-kB and DDE Recombination Pathogenesis -- chapter 10 Ataxia Telangiectasia and Its Overlap with Nijmegen Breakage Syndrome and Ataxia-Like Disorders -- chapter 11 Animal Models for Ataxia Telangiectasia. | |
| 520 | 3 | |a Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is between 19-25 years, due to genetic heterogeneity, the survival rate can be fairly variable. In rare cases, however, patients survive into their third decade. The longest living patient on record died at age 34 years. Although the disease may have been identified earlier, according to PubMed the first published report on AT was in 1958. These authors described the disease to be of a slowly progressive type; the patient suffered from sinopulmonary infection, which must have been due to a deficiency in the immune system, that was discovered later in AT patients. Since this publication, 4720 research papers including a number of excellent reviews have appeared (PubMed data, September, 2008) Results from these studies have provided exciting information on a multiplicity of hitherto unknown complex processes of sensing DNA damage, cell signalling, protein/protein interactions and their post-translational processing, involving activities from control of redox state to repair of double strand DNA breaks (DSB), with outcomes that include apoptosis and carcinogenesis. Despite a huge volume of research already carried out, we are still some distance away from a complete understanding of the molecular mechanisms of AT, and there is no evidence that interest in this disease is waning. Hence this book should provide both expert and novice researchers in the field with an excellent overview of the current status of research and pointers to future research goals. | |
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