Molecular mechanisms of cockayne syndrome / (Record no. 69917)
[ view plain ]
| 000 -LEADER | |
|---|---|
| fixed length control field | 03674nam a2200349Ii 4500 |
| 001 - CONTROL NUMBER | |
| control field | 9780429089909 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 180727s2009 fluab ob 001 0 eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| ISBN | 9780429089909 |
| -- | (e-book : PDF) |
| 082 04 - CLASSIFICATION NUMBER | |
| Call Number | 616/.042 |
| 100 1# - AUTHOR NAME | |
| Author | Ahmad, Shamim I., |
| 245 10 - TITLE STATEMENT | |
| Title | Molecular mechanisms of cockayne syndrome / |
| 250 ## - EDITION STATEMENT | |
| Edition statement | First edition. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Number of Pages | 1 online resource (130 pages) : |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Remark 2 | chapter 1 Clinical Features in Cockayne and Related Syndromes -- chapter 2 Transcription-Coupled Repair and Its Defect in Cockayne Syndrome -- chapter 3 Cockayne Syndrome Group B Protein and Chromatin Structure -- chapter 4 Cell Signalling, Cell Cycle Defect and Apoptosis in Cockayne Syndrome -- chapter 5 Roles of the Cockayne Syndrome Group B Protein in Processing Oxidative DNA Damage and in Protection against Neurodegeneration -- chapter 6 Structural Biology of Cockayne Syndrom e Proteins, Their Interactions and Insights into DNA Repair Mechanisms -- chapter 7 Cockayne Syndrome: Its Overlap with Xeroderm a Pigmentosum and Other Progeroid Syndromes -- chapter 8 Molecular Basis and Molecular Diagnosis of Cockayne Syndrome -- chapter 9 Animal and Yeast Models of Cockayne Syndrome. |
| 520 3# - SUMMARY, ETC. | |
| Summary, etc | Cockayne syndrome (CS) is a rare autosomal genetic disorder that was first identified almost 62 years ago by Alfred Cockayne and was named after him. The earliest publication record (PubMed) available is a paper by Marie et al in 1958. Since then 815 research papers including excellent reviews have been published (PubMed, December 2008), yet we are a long way from fully understanding the exact molecular mechanisms of this disease. Ironically, like many other inborn genetic defects, CS is still incurable; the mean life expectancy of the patients is 12.5 years. Major milestones in the study of CS were the discovery that the patients have a defect in DNA repair, the identification of the two complementation groups CSA and CSB, and the finding that CS cells were defective in the specialized pathway of nucleotide excision repair, transcriptional-coupled repair (TCR), that removes certain lesions from actively transcribed DNA. The editor of this book (SIA) has considerable interest in this field; recent studies have revealed a number of new enzymes (unpublished data) that may be responsible for the scavenge of ROS. Our future studies might show if deficiency of any of these newly discovered enzymes (as a result of genetic mutations) may lead to the neurodegeneration and other ROS-induced diseases. We hope that this book will stimulate both experts and novice researchers in the field with excellent overview of the current status of research and pointers to future research goals. The insights gained may also be valuable for the development of new therapeutic regimens for dealing with the clinical problems raised by this rare but devastating human condition. |
| 650 12 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| General subdivision | genetics. |
| 650 12 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| General subdivision | physiopathology. |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | https://www.taylorfrancis.com/books/9781498712705 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) | |
| Koha item type | eBooks |
| 264 #1 - | |
| -- | Boca Raton, FL : |
| -- | CRC Press, an imprint of Taylor and Francis, |
| -- | 2009. |
| 650 #0 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| -- | Developmental disabilities. |
| 650 #0 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| -- | Genetic disorders. |
| 650 #0 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| -- | Syndromes. |
| 650 12 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| -- | Cockayne Syndrome |
| 650 12 - SUBJECT ADDED ENTRY--SUBJECT 1 | |
| -- | Cockayne Syndrome |
No items available.