رکورد قبلیرکورد بعدی

" DNA repair disorders / "


Document Type : BL
Record Number : 889061
Title & Author : DNA repair disorders /\ Chikako Nishigori, Kaoru Sugasawa, editors.
Publication Statement : Singapore :: Springer,, [2019]
Page. NO : 1 online resource (viii, 221 pages)
ISBN : 9789811067228
: : 9811067228
: 9789811067211
: 981106721X
Notes : 5.6 Genotype-Phenotype Relationship in XP
Bibliographies/Indexes : Includes bibliographical references.
Contents : Intro; Preface; Contents; Chapter 1: Molecular Mechanism of DNA Damage Recognition for Global Genomic Nucleotide Excision Repair: A Defense System Against UV-Induced Skin Cancer; 1.1 Introduction; 1.2 Mammalian NER Pathways; 1.2.1 Lesion Recognition; 1.2.2 Lesion Verification and Demarcation; 1.2.3 Dual Incisions; 1.2.4 DNA Repair Synthesis and Ligation; 1.3 XPC Recognizes a Broad Range of Substrates for NER; 1.3.1 Architecture of the XPC Complex; 1.3.2 XPC Indirectly Senses DNA Lesions; 1.4 TFIIH and XPA Ensure Fidelity of GG-NER; 1.4.1 Two-Step Damage Recognition and TFIIH ATPases/Helicases
: 1.4.2 XPA Supports the Lesion Recognition Functions of TFIIH1.5 UV-DDB as a Suppressor of UV-Induced Mutagenesis and Carcinogenesis; 1.5.1 UV-DDB Assists XPC in Recognizing UV-Induced Photolesions; 1.5.2 UV-DDB and Cellular DNA Damage Responses; 1.6 Roles of Chromatin Structures in Regulation of Lesion Recognition; 1.7 Conclusions; References; Chapter 2: Disorders with Deficiency in TC-NER: Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome; 2.1 Introduction; 2.2 Transcription-Coupled Nucleotide Excision Repair; 2.2.1 Molecular Mechanism of TC-NER
: 2.2.2 TC-NER-Deficient Disorders2.2.3 Diagnostic Methods for TC-NER-Deficient Disorders; 2.3 Molecular Pathogenesis of Cockayne Syndrome and UV-Sensitive Syndrome; 2.3.1 Proteins Involved in the Initiation Step of TC-NER; 2.3.1.1 CSA and CSB; 2.3.1.2 UVSSA and USP7; 2.3.1.3 General Model of the TC-NER Initiation Process; 2.3.2 Molecular Pathogenesis of CS and UVSS; 2.3.2.1 Model 1: The Role of CS Proteins in Oxidative DNA Damage Repair; 2.3.2.2 Model 2: The Role of CSB in Basal Transcription; 2.3.2.3 Model 3: The Role of TC-NER in the Processing of Stalled RNA Pol IIo
: 2.4 Concluding Remarks and Future ProspectReferences; Chapter 3: Neurological Symptoms in Xeroderma Pigmentosum; 3.1 The Neurological Manifestations and Natural History of X-PA; 3.2 MRI Findings; 3.3 Peripheral Neuropathy; 3.4 Neuropathological Findings in Autopsy Cases; 3.5 The Cause of Neurological Complications in XP-A; References; Chapter 4: Hearing Impairment in Xeroderma Pigmentosum: Animal Models and Human Studies; 4.1 Introduction; 4.1.1 Clinical Features of Hearing in Patients with XP; 4.1.2 Severe Hearing Impairment in Patients with XP; 4.2 Audiological Tests
: 4.2.1 Pure-Tone Audiometry4.2.2 Auditory Brainstem Response (ABR); 4.2.3 Otoacoustic Emissions (OAE); 4.3 Histopathology of the Inner Ear in Patients with XP; 4.4 Animal Studies; 4.4.1 Hearing in Xpa-Deficient Mice; 4.4.2 Morphological Features of Xpa-Deficient Mice Cochleae; 4.5 Molecular Mechanism of Hearing Loss in XP; 4.6 Patient Hearing Care; References; Chapter 5: Epidemiological Study of Xeroderma Pigmentosum in Japan: Genotype-Phenotype Relationship; 5.1 Introduction; 5.2 Epidemiology; 5.3 Cutaneous Symptoms of XP; 5.4 Neurological Symptom of XP; 5.5 Eye Manifestation of XP
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.
Subject : DNA repair.
Subject : DNA repair.
Subject : DNA Repair.
Subject : DNA Repair-Deficiency Disorders.
Dewey Classification : ‭572.86459‬
LC Classification : ‭QH467‬‭.D63 2019‬
NLM classification : ‭2019 G-991‬
: ‭QU 510‬
Added Entry : Nishigori, Chikako
: Sugasawa, Kaoru
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