Diseases of DNA Repair by Shamim I. AhmadDiseases of DNA Repair by Shamim I. Ahmad

Diseases of DNA Repair

EditorShamim I. Ahmad

Hardcover | May 21, 2010

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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.
Shamim Ahmad after obtaining his Master's degree in Botany from Patna University, Bihar, India and his PhD in Molecular Genetics from Leicester University, England, joined Nottingham Polytechnic as Grade 1 lecturer and subsequently promoted to SL post. Nottingham Polytechnic subsequently became Nottingham Trent University where, after ...
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Title:Diseases of DNA RepairFormat:HardcoverDimensions:284 pagesPublished:May 21, 2010Publisher:Springer New YorkLanguage:English

The following ISBNs are associated with this title:

ISBN - 10:1441964479

ISBN - 13:9781441964472

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Table of Contents

1. Triple-A SyndromeVijaya Sarathi and Nalini S. ShahAbstractIntroductionEpidemiologyEtiologyPathologyDiagnosisDifferential DiagnosisTreatmentConclusion2. Amyotrophic Lateral SclerosisJ. Jefferson P. Perry, David S. Shin and John A. TainerAbstractIntroductionClinical FeaturesGenetic Basis and the Molecular Mechanism of the DiseaseCu,ZnSODTDP-43FUS/TLSConclusion3. Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia 1Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi and Osamu OnoderaAbstractIntroductionEpidemiologyGenetics of EAOH/AOA1Clinical FeaturesPathogenesisConclusion4. Clinical Features and Pathogenesis of Alzheimer's Disease: Involvementof Mitochondria and Mitochondrial DNAMichelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaroand Gabriele SicilianoAbstractAlzheimer's DiseaseMitochondrial Structure and FunctionOxidative Stress and Mitochondrial Dysfunction in ADThe Role of Mitochondrial DNAConclusion5. Huntington's DiseaseEmmanuel Roze, Cecilia Bonnet, Sandrine Betuing and Jocelyne CabocheAbstract HistoryClinical AspectsGenetic AspectsNeuropathologyMolecular MechanismsConclusion6. Clinical Features and MolecularMechanisms of Spinal and BulbarMuscular Atrophy (SBMA)Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi,Fumiaki Tanaka and Gen SobueAbstractClinical FeaturesGenetic BasisHistopathologyMolecular MechanismsTherapeutic StrategiesConclusion7. Spinocerebellar Ataxia with Axonal NeuropathyCheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A.M. Salih,Hiroshi Takashima and Cornelius F. BoerkoelAbstractIntroductionSymptoms of SCAN1Genetic Basis of SCAN1Tdp1 FunctionMolecular Basis of SCAN1Current and Future ResearchConclusion8. Tuberous Sclerosis Complex and DNA RepairSamy L. HabibAbstractIntroduction: Clinical Manifestations of TSC DiseaseRenal Lesions in TSC-Deficient MammalsTSC1 and TSC2 GenesTSC Genes and Cell SignalsTSC and DNA Damage/Repair PathwayTSC2 Regulates DNA Damage/Repair PathwayConclusion9. Hereditary PhotodermatosesDennis H. Oh and Graciela SpivakAbstractIntroductionMetabolic PhotodermatosesHereditary Photodermatoses of Unknown Etiology or PathogenesisDefects in Cancer Suppressor GenesHuman Syndromes Defective in DNA RepairUV-Sensitive Syndrome (UVSS)Conclusion10. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Ta y SyndromeW. Clark Lambert, Claude E. Gagna and Muriel W. LambertAbstractClinical ManifestationsXeroderma Pigmentosum/Trichothiodystrophy Overlap SyndromeCockayne Syndrome/Trichothiodystrophy Overlap SyndromeEtiopathogenesisLaboratory DiagnosisAnimal ModelConclusion 11. Cornelia de Lange SyndromeJinglan Liu and Gareth BaynamAbstractClinical CharacteristicsMolecular Genetics of CdLSConclusion12. Rectal Cancer and Importance of Chemoradiation in the TreatmentSergio HuertaAbstractIntroductionRectal Cancer: Metastasis and Survival RatesMechanisms of Cell Death By Ionizing RadiationMechanisms of Resistance to Radiation in Rectal CancerProliferation Markers and Mitotic Index (Ki-67)p53, p21 and p27 and Apoptotic Index (AI)ApoptosisNF?BInhibitors of Apoptosis (IAPs: Survivin)Conclusion13. Familial Cutaneous MelanomaJohan HanssonAbstractIntroductionRisk Factors for MelanomaFamilial Melanoma-The Clinical PictureMolecular Genetics of Familial Cutaneous MelanomaHigh Risk Melanoma GenesCandidate Loci for Novel Genes Predisposing to Familial CMRisk of Melanoma and Other Cancers in Melanoma Families with Germline CDKN2A MutationsGenetic Testing in Familial MelanomaManagement of Familial MelanomaPrimary PreventionSecondary Prevention of CMPancreatic Carcinoma SurveillanceConclusion14. Primary Immunodeficiency SyndromesMary A. Slatter and Andrew R. GenneryAbstractIntroductionRole of DNA Repair Proteins in Adaptive ImmunityGenetic Defects Associated with Primary Immunodeficiency SyndromesTreatmentConclusion15. Inherited Defects of Immunoglobulin Class Switch RecombinationSven Kracker, Pauline Gardës and Anne DurandyAbstractIntroductionCSR Deficiency Caused by Activation-Induced Cytidine Deaminase(AID)-DefectCSR Deficiency Caused by Uracil-N Glycosylase (UNG)-DefectCSR Deficiency Caused by Post-Meiotic Segregation 2 (PMS2) DefectCSR-Deficiency in Molecularly Defined Syndromes Affecting the DNARepair MachineryConclusion16. Ligase IV SyndromeDimitry A. ChistiakovAbstractLigase IV Syndrome: Clinical FeaturesDNA Ligase IV Is a Component of Nonhomologous End-JoiningPathway of DNA RepairDNA Ligase IV: Structure and FunctionAnimal Models with Genetic Defects in Lig4Ligase IV Mutations Causing LIG4 Syndrome in HumansLIG4 Mutations Associated with Severe Combined ImmunodeficiencyConclusion17. Muir-Torre SyndromePedro MercaderAbstract IntroductionHistopathologyConclusion18. Wilms' TumorCarlos H. Martínez, Sumit Dave and Jonathan IzawaAbstractIntroductionEpidemiologyGenetic Basis and the Molecular Mechanism of the DiseaseWilms' Tumor Associated SyndromesHistopathologyClinical FeaturesImaging StudiesStagingTreatmentBilateral Wilms' TumorAdult Wilms' TumorConclusion19. Cerebro-Oculo-Fa cio-Skeletal SyndromeHiroshi Suzumura and Osamu ArisakaAbstractIntroductionClinical FeaturesPrognosisDifferential DiagnosisConclusion20. Dyskeratosis CongenitaVineeta Gupta and Akash KumarAbstractIntroductionClinical FeaturesGenetics of DCGenetic DefectsImmunological AbnormalitiesTreatmentPrognosis and OutcomeConclusion21. RetinoblastomaDietmar LohmannAbstractClinical AspectsSecond Cancers in Patients with Hereditary RbMolecular GeneticsPhenotypic Consequences of RB1 Gene MutationsConclusion22. Von Hippel Lindau SyndromeJenny J. Kim, Brian I. Rini and Donna E. HanselAbstractGenetic Basis and Molecular Mechanism of VHLSClinical FeaturesConclusionIndex