DNA Repair Disorders

  • Chikako Nishigori
  • Kaoru Sugasawa

Table of contents

  1. Front Matter
    Pages i-viii
  2. Fumio Kanda, Takehiro Ueda, Chikako Nishigori
    Pages 41-47
  3. Shinichi Moriwaki
    Pages 77-85
  4. Hiva Fassihi, Isabel Garrood, Natalie Chandler, Shehla Mohammed, Alan R. Lehmann, Robert Sarkany
    Pages 99-114
  5. Masaya Kubota
    Pages 115-132
  6. Donata Orioli, Miria Stefanini
    Pages 133-159
  7. Hideo Kaneko
    Pages 161-168
  8. Chikahide Masutani, Fumio Hanaoka
    Pages 169-189
  9. Deborah Tamura, Ryusuke Ono, John J. DiGiovanna, Kenneth H. Kraemer
    Pages 203-221

About this book


This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well.

Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice.

DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.


DNA repair Xertoderma pigmentosum Nucletotide excision repair Cockayne syndromes Trichothiodystrophy Genetic diagnosis

Editors and affiliations

  • Chikako Nishigori
    • 1
  • Kaoru Sugasawa
    • 2
  1. 1.Department of DermatologyGraduate School of Medicine, Kobe UniversityKobeJapan
  2. 2.Biosignal Research CenterKobe UniversityKobeJapan

Bibliographic information

  • DOI
  • Copyright Information Springer Nature Singapore Pte Ltd. 2019
  • Publisher Name Springer, Singapore
  • eBook Packages Medicine
  • Print ISBN 978-981-10-6721-1
  • Online ISBN 978-981-10-6722-8
  • Buy this book on publisher's site
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