Beschreibung
Inhaltsangabe1. 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. Gen
Inhaltsverzeichnis
1. Triplea¿`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 TDPa¿`43 FUS/TLS Conclusion 3. Earlya¿`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 TSCa¿`Deficient Mammals TSC1 and 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 UVa¿`Sensitive Syndrome (UVSS) Conclusion 10. Trichothiodystrophy: Photosensitive, TTDa¿`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 (Kia¿`67) p53, p21 and p27 and Apoptotic Index (AI) Apoptosis NFκB Inhibitors of Apoptosis (IAPs: Survivin) Conclusion 13. Familial Cutaneous Melanoma Johan Hansson Abstract Introduction Risk Factors for Melanoma Familial Melanomaa¿'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 ...
Autorenporträt
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 serving for about 35 years, he took early retirement to spend the remaining time writing books and conducting full-time research. For more than three decades he worked on different areas of biology including thymineless death in bacteria, genetic control of nucleotide catabolism, development of anti-AIDS drugs, control of microbial infection of burns, phages of thermophilic bacteria and microbial flora of Chernobyl after nuclear accident. But his primary interest, which started 25 years ago, is DNA damage and repair, particularly near UV photolysis of biological compounds, production of reactive oxygen species and their implications on human health including skin cancer and xeroderma pigmentosum. He is also investigating photolysis of non-biological compounds such as 8-methoxypsoralen+UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia. In 2003 he received a prestigious "Asian Jewel Award" in Britain for "Excellence in Education". He is also the Editor of Molecular Mechanisms of Fanconi Anaemia, Molecular Mechanisms of Xeroderma Pigmentosum, Molecular Mechanisms of Ataxia Telangiectasia and Molecular Mechanisms of Cockayne Syndrome published by Landes Bioscience.
