DNA Repair Disorders

Editors: Nishigori, Chikako, Sugasawa, Kaoru (Eds.)

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  • Presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP)
  • Provides detailed information on clinical features from more than 100 patients with XP-A
  • Aims to help understanding the concept and molecular mechanisms 
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eBook $119.00
price for USA in USD
  • ISBN 978-981-10-6722-8
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Hardcover $159.99
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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.

About the authors

Editors:Dr. Chikako Nishigori, Department of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan

Dr. Kaoru Sugasawa, Biosignal Research Center, Kobe University, Kobe, Japan

Table of contents (14 chapters)

Table of contents (14 chapters)
  • Molecular Mechanism of DNA Damage Recognition for Global Genomic Nucleotide Excision Repair: A Defense System Against UV-Induced Skin Cancer

    Pages 1-23

    Sugasawa, Kaoru

  • Disorders with Deficiency in TC-NER: Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome

    Pages 25-40

    Guo, Chaowan (et al.)

  • Neurological Symptoms in Xeroderma Pigmentosum

    Pages 41-47

    Kanda, Fumio (et al.)

  • Hearing Impairment in Xeroderma Pigmentosum: Animal Models and Human Studies

    Pages 49-58

    Fujita, Takeshi (et al.)

  • Epidemiological Study of Xeroderma Pigmentosum in Japan: Genotype-Phenotype Relationship

    Pages 59-76

    Nishigori, Chikako (et al.)

Buy this book

eBook $119.00
price for USA in USD
  • ISBN 978-981-10-6722-8
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • Immediate eBook download after purchase and usable on all devices
  • Bulk discounts available
Hardcover $159.99
price for USA in USD
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Bibliographic Information

Bibliographic Information
Book Title
DNA Repair Disorders
Editors
  • Chikako Nishigori
  • Kaoru Sugasawa
Copyright
2019
Publisher
Springer Singapore
Copyright Holder
Springer Nature Singapore Pte Ltd.
eBook ISBN
978-981-10-6722-8
DOI
10.1007/978-981-10-6722-8
Hardcover ISBN
978-981-10-6721-1
Edition Number
1
Number of Pages
VIII, 221
Number of Illustrations
17 b/w illustrations, 29 illustrations in colour
Topics