rdf-syntax-grammar
mods:
  schema location: http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
  title info:
    title: DNA Repair Disorders
  name:
    name part: Nishigori, Chikako.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: Sugasawa, Kaoru.
    role:
      role term: editor.
    role:
      role term: edt
    role:
      role term: http://id.loc.gov/vocabulary/relators/edt
  name:
    name part: SpringerLink (Online service)
  type of resource: text
  origin info:
    place:
      place term: si
    date issued: 2019
    edition: 1st ed. 2019.
    issuance: monographic
  language:
    language term: eng
  physical description:
    form: electronic
    form: electronic resource
    reformatting quality: access
    form: remote
    extent: VIII, 221 p. 46 illus., 29 illus. in color. online resource.
  abstract: 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.
  table of contents: Global genome‐nucletotide excision repair -- Disorders with deficiency in TC-NER -- Xertoderma pigmentosum genotype‐phenotype relationship -- Neurological symptoms in xeroderma pigmentosum -- Hearing impairment in xeroderma pigmentosum: animal model and human study -- Epidemiological study of Xeroderma pigmentosum in Japan - gentoype phenotype relationship -- prenatal diagnosis of xeroderma pigmentosum -- Neurological disorders and challenging intervention in xeroderma pigmentosum and Cockayne syndrome -- Xeroderma Pigmentosum in the UK -- Cockayne syndromes - clinical aspects -- Trichothiodystrophy -- Rothmund Thompson syndrome -- Translesion synthesis -- Ataxia Telangiectasia and NBS -- Promising treatment for genetic diseases.
  note: edited by Chikako Nishigori, Kaoru Sugasawa.
  subject:
    topic: Dermatology
  subject:
    topic: Dermatology
  classification: RL1-803
  classification: 616.5
  related item:
    title info:
      title: Springer eBooks
  identifier: 9789811067228
  identifier: https://doi.org/10.1007/978-981-10-6722-8
  record info:
    record creation date: 181230
    record change date: 20190620111244.0
    record identifier: 978-981-10-6722-8