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MORE ABOUT THIS BOOK
Main description:
Since this book is geared to be used by varied groups of readers such as advanced students and instructors in the fields of biology and medicine, scientists and more importantly clinicians, it is considered important to provide brief accounts of the basics of DNA damage, repair, mutagenesis and cancer. The purpose of this book is to present an updated detailed account of some important additional diseases of DNA repair. It has not been possible to cover all the DNA repair deficient diseases in this volume, hence diseases such as Bloom's syndrome, Werner's syndrome, Nijmegen breakage syndrome, ataxia telangiectasia-like disorder, RA D 50 deficiency, RIDDLE syndrome and others will be presented in a forthcoming volume.
Contents:
1. Triple?A Syndrome
Vijaya Sarathi and Nalini S. Shah
Abstract
Introduction
Epidemiology
Etiology
Pathology
Diagnosis
Differential Diagnosis
Treatment
Conclusion
2. Amyotrophic Lateral Sclerosis
J. Jefferson P. Perry, David S. Shin and John A. Tainer
Abstract
Introduction
Clinical Features
Genetic Basis and the Molecular Mechanism of the Disease
Cu,ZnSOD
TDP?43
FUS/TLS
Conclusion
3. Early?Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia 1
Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi and Osamu Onodera
Abstract
Introduction
Epidemiology
Genetics of EAOH/AOA1
Clinical Features
Pathogenesis
Conclusion
4. Clinical Features and Pathogenesis of Alzheimer's Disease: Involvement
of Mitochondria and Mitochondrial DNA
Michelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaro
and Gabriele Siciliano
Abstract
Alzheimer's Disease
Mitochondrial Structure and Function
Oxidative Stress and Mitochondrial Dysfunction in AD
The Role of Mitochondrial DNA
Conclusion
5. Huntington's Disease
Emmanuel Roze, Cecilia Bonnet, Sandrine Betuing and Jocelyne Caboche
Abstract
History
Clinical Aspects
Genetic Aspects
Neuropathology
Molecular Mechanisms
Conclusion
6. Clinical Features and MolecularMechanisms of Spinal and Bulbar
Muscular Atrophy (SBMA)
Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi,
Fumiaki Tanaka and Gen Sobue
Abstract
Clinical Features
Genetic Basis
Histopathology
Molecular Mechanisms
Therapeutic Strategies
Conclusion
7. Spinocerebellar Ataxia with Axonal Neuropathy
Cheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A.M. Salih,
Hiroshi Takashima and Cornelius F. Boerkoel
Abstract
Introduction
Symptoms of SCAN1
Genetic Basis of SCAN1
Tdp1 Function
Molecular Basis of SCAN1
Current and Future Research
Conclusion
8. Tuberous Sclerosis Complex and DNA Repair
Samy L. Habib
Abstract
Introduction: Clinical Manifestations of TSC Disease
Renal Lesions in TSC?Deficient Mammals
TSC1and TSC2 Genes
TSC Genes and Cell Signals
TSC and DNA Damage/Repair Pathway
TSC2 Regulates DNA Damage/Repair Pathway
Conclusion
9. Hereditary Photodermatoses
Dennis H. Oh and Graciela Spivak
Abstract
Introduction
Metabolic Photodermatoses
Hereditary Photodermatoses of Unknown Etiology or Pathogenesis
Defects in Cancer Suppressor Genes
Human Syndromes Defective in DNA Repair
UV?Sensitive Syndrome (UVSS)
Conclusion
10. Trichothiodystrophy: Photosensitive, TTD?P, TTD, Ta y Syndrome
W. Clark Lambert, Claude E. Gagna and Muriel W. Lambert
Abstract
Clinical Manifestations
Xeroderma Pigmentosum/Trichothiodystrophy Overlap Syndrome
Cockayne Syndrome/Trichothiodystrophy Overlap Syndrome
Etiopathogenesis
Laboratory Diagnosis
Animal Model
Conclusion
11. Cornelia de Lange Syndrome
Jinglan Liu and Gareth Baynam
Abstract
Clinical Characteristics
Molecular Genetics of CdLS
Conclusion
12. Rectal Cancer and Importance of Chemoradiation in the Treatment
Sergio Huerta
Abstract
Introduction
Rectal Cancer: Metastasis and Survival Rates
Mechanisms of Cell Death By Ionizing Radiation
Mechanisms of Resistance to Radiation in Rectal Cancer
Proliferation Markers and Mitotic Index (Ki?67)
p53, p21 and p27 and Apoptotic Index (AI)
Apoptosis
NF?B
Inhibitors of Apoptosis (IAPs: Survivin)
Conclusion
13. Familial Cutaneous Melanoma
Johan Hansson
Abstract
Introduction
Risk Factors for Melanoma
Familial Melanoma-The Clinical Picture
Molecular Genetics of Familial Cutaneous Melanoma
High Risk Melanoma Genes
Candidate Loci for Novel Genes Predisposing to Familial CM
Risk of Melanoma and Other Cancers in Melanoma Families with Germline CDKN2A Mutations
Genetic Testing in Familial Melanoma
Management of Familial Melanoma
Primary Prevention
Secondary Prevention of CM
Pancreatic Carcinoma Surveillance
Conclusion
14. Primary Immunodeficiency Syndromes
Mary A. Slatter and Andrew R. Gennery
Abstract
Introduction
Role of DNA Repair Proteins in Adaptive Immunity
Genetic Defects Associated with
PRODUCT DETAILS
Publisher: Springer (Springer-Verlag New York Inc.)
Publication date: May, 2010
Pages: 284
Weight: 622g
Availability: Available
Subcategories: General Issues, Genetics
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