DNA repair disorders. ([2019])

• Record Type: Book
• Further Information: Note: Chikako Nishigori, Kaoru Sugasawa, editors.
• Editors: Nishigori, Chikako; Sugasawa, Kaoru
• 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
• Publisher Details: Singapore : Springer
• Publication Date: 2019
• Extent: 1 online resource (viii, 221 pages)
• Subjects: 572.86459; DNA repair; DNA repair; Electronic books
• Languages: English
• ISBNs: 9789811067228; 9811067228
• Related ISBNs: 981106721X; 9789811067211
• Notes: Note: Includes bibliographical references.; Note: Description based on online resource; title from digital title page (viewed on February 28, 2019).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.