國立虎尾科技大學 |

DNA Repair Disorders

紀錄類型:	書目-語言資料,印刷品 : Monograph/item
正題名/作者:	DNA Repair Disorders/ edited by Chikako Nishigori, Kaoru Sugasawa.
其他作者:	Nishigori, Chikako.
面頁冊數:	VIII, 221 p. 46 illus., 29 illus. in color.online resource. :
Contained By:	Springer Nature eBook
標題:	Dermatology. -
電子資源:	https://doi.org/10.1007/978-981-10-6722-8
ISBN:	9789811067228

DNA Repair Disorders
DNA Repair Disorders[electronic resource] /edited by Chikako Nishigori, Kaoru Sugasawa. - 1st ed. 2019. - VIII, 221 p. 46 illus., 29 illus. in color.online resource.

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.

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.

ISBN: 9789811067228

Standard No.: 10.1007/978-981-10-6722-8doiSubjects--Topical Terms:

669082
Dermatology.

LC Class. No.: RL1-803

Dewey Class. No.: 616.5

DNA Repair Disorders
LDR:03379nam a22003855i 4500 001 1010953
003 DE-He213
005 20200706142929.0
007 cr nn 008mamaa
008 210106s2019 si | s |||| 0|eng d
020 $a 9789811067228 $9 978-981-10-6722-8
024 7 $a 10.1007/978-981-10-6722-8 $2 doi
035 $a 978-981-10-6722-8
050 4 $a RL1-803
072 7 $a MJK $2 bicssc
072 7 $a MED017000 $2 bisacsh
072 7 $a MJK $2 thema
082 0 4 $a 616.5 $2 23
245 1 0 $a DNA Repair Disorders $h [electronic resource] / $c edited by Chikako Nishigori, Kaoru Sugasawa.
250 $a 1st ed. 2019.
264 1 $a Singapore : $b Springer Singapore : $b Imprint: Springer, $c 2019.
300 $a VIII, 221 p. 46 illus., 29 illus. in color. $b online resource.
336 $a text $b txt $2 rdacontent
337 $a computer $b c $2 rdamedia
338 $a online resource $b cr $2 rdacarrier
347 $a text file $b PDF $2 rda
505 0 $a 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.
520 $a 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.
650 0 $a Dermatology. $3 669082
700 1 $a Nishigori, Chikako. $e editor. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1305073
700 1 $a Sugasawa, Kaoru. $4 edt $4 http://id.loc.gov/vocabulary/relators/edt $3 1104579
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer Nature eBook
776 0 8 $i Printed edition: $z 9789811067211
776 0 8 $i Printed edition: $z 9789811067235
856 4 0 $u https://doi.org/10.1007/978-981-10-6722-8
912 $a ZDB-2-SME
912 $a ZDB-2-SXM
950 $a Medicine (SpringerNature-11650)
950 $a Medicine (R0) (SpringerNature-43714)