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DNA Repair Disorders [electronic resource]
Nishigori, Chikako
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| 자료유형 | 단행본 |
|---|---|
| 개인저자 | Nishigori, Chikako.,editor. Sugasawa, Kaoru.,editor. |
| 단체저자명 | SpringerLink (Online service). |
| 서명/저자사항 | DNA Repair Disorders [electronic resource] / edited by Chikako Nishigori, Kaoru Sugasawa. |
| 판사항 | 1st ed. 2019. |
| 형태사항 | VIII, 221 p. 46 illus., 29 illus. in color:online resource. |
| 기본자료 저록 | Springer Nature eBook |
| 기타형태 저록 | Printed edition:9789811067211Printed edition:9789811067235 |
| ISBN | 9789811067228 |
| 기타표준부호 | 10.1007/978-981-10-6722-8 |
| 내용주기 | 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. |
| 요약 | 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. |
| 일반주제명 | Dermatology. Dermatology. |
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