Diseases of DNA Repair

1. Front Matter

   Pages i-xxvii

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2. Triple-A Syndrome

   • Vijaya Sarathi, Nalini S. Shah

   Pages 1-8

3. Amyotrophic Lateral Sclerosis

   • J. Jefferson P. Perry, David S. Shin, John A. Tainer

   Pages 9-20

4. Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia/Ataxia with Oculomotor Apraxia

   • Masayoshi Tada, Akio Yokoseki, Tatsuya Sato, Takao Makifuchi, Osamu Onodera

   Pages 21-33

5. Clinical Features and Pathogenesis of Alzheimer’s Disease: Involvement of Mitochondria and Mitochondrial DNA

   • Michelangelo Mancuso, Daniele Orsucci, Annalisa LoGerfo, Valeria Calsolaro, Gabriele Siciliano

   Pages 34-44

6. Huntington’s Disease

   • Emmanuel Roze, Cecilia Bonnet, Sandrine Betuing, Jocelyne Caboche

   Pages 45-63

7. Clinical Features and Molecular Mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA)

   • Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Fumiaki Tanaka, Gen Sobue

   Pages 64-74

8. Spinocerebellar Ataxia with Axonal Neuropathy

   • Cheryl Walton, Heidrun Interthal, Ryuki Hirano, Mustafa A. M. Salih, Hiroshi Takashima, Cornelius F. Boerkoel

   Pages 75-83

9. Tuberous Sclerosis Complex and DNA Repair

   • Samy L. Habib

   Pages 84-94

10. Hereditary Photodermatoses

    • Dennis H. Oh, Graciela Spivak

    Pages 95-105

11. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome

    • W. Clark Lambert, Claude E. Gagna, Muriel W. Lambert

    Pages 106-110

12. Cornelia de Lange Syndrome

    • Jinglan Liu, Gareth Baynam

    Pages 113-123

13. Rectal Cancer and Importance of Chemoradiation in the Treatment

    • Sergio Huerta

    Pages 124-133

14. Familial Cutaneous Melanoma

    • Johan Hansson

    Pages 134-145

15. Primary Immunodeficiency Syndromes

    • Mary A. Slatter, Andrew R. Gennery

    Pages 146-165

16. Inherited Defects of Immunoglobulin Class Switch Recombination

    • Sven Kracker, Pauline Gardës, Anne Durandy

    Pages 166-174

17. Ligase IV Syndrome

    • Dimitry A. Chistiakov

    Pages 175-185

18. Muir-Torre Syndrome

    • Pedro Mercader

    Pages 186-195

19. Wilms’ Tumor

    • Carlos H. Martínez, Sumit Dave, Jonathan Izawa

    Pages 196-209

20. Cerebro-Oculo-Facio-Skeletal Syndrome

    • Hiroshi Suzumura, Osamu Arisaka

    Pages 210-214

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.

• Ahmad
• DNA
• Disease
• Gen
• Repair
• Retinoblastom
• Xeroderma pigmentosum
• genetics

• School of Science and Technology, Nottingham Trent University, Nottingham, UK

  Shamim I. Ahmad

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.

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