000 03674nam a2200349Ii 4500
001 9780429089909
008 180727s2009 fluab ob 001 0 eng d
020 _a9780429089909
_q(e-book : PDF)
035 _a(OCoLC)316808431
050 4 _aRB155.5
_bA363 2009
060 0 0 _a2010 F-950
060 1 0 _aWE 250
_bM7186 2009
072 7 _aSCI
_x008000
_2bisacsh
072 7 _aPS
_2bicscc
082 0 4 _a616/.042
_223
100 1 _aAhmad, Shamim I.,
_eauthor.
_911242
245 1 0 _aMolecular mechanisms of cockayne syndrome /
_cby Shamim I. Ahmad.
250 _aFirst edition.
264 1 _aBoca Raton, FL :
_bCRC Press, an imprint of Taylor and Francis,
_c2009.
300 _a1 online resource (130 pages) :
_b18 illustrations
505 0 _achapter 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 _aCockayne 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of this book (SIA) has considerable interest in this field; recent studies have revealed a number of new enzymes (unpublished data) that may be responsible for the scavenge of ROS.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 0 _aDevelopmental disabilities.
_911243
650 0 _aGenetic disorders.
_911244
650 0 _aSyndromes.
_911245
650 1 2 _aCockayne Syndrome
_xgenetics.
_911246
650 1 2 _aCockayne Syndrome
_xphysiopathology.
_911247
710 2 _aTaylor and Francis.
_910719
776 0 8 _iPrint version:
_z9781587063213
_w(DLC) 2009019070
856 4 0 _uhttps://www.taylorfrancis.com/books/9781498712705
_zClick here to view.
942 _cEBK
999 _c69917
_d69917