Moyamoya disease explored through RNF213 : genetics, molecular pathology, and clinical sciences /: genetics, molecular pathology, and clinical sciences. (2017)

• Record Type: Book
• Further Information: Note: Akio Koizumi, Kazuhiro Nagata, Kiyohiro Houkin, Teiji Tominaga, Susumu Miyamoto, Shigeo Kure, Elizabeth Tournier-Lasserve, editors.
• Editors: Koizumi, Akio; Nagata, Kazuhiro, 1947-; Houkin, Kiyohiro; Tominaga, Teiji; Miyamoto, Susumu; Kure, Shigeo; Tournier-Lasserve, Elizabeth
• Contents: Preface; Contents; Part I: Prologue; Chapter 1: A Prologue to€Moyamoya Disease and€RNF213; 1.1 History of€the€Discovery of€Moyamoya Disease; 1.1.1 Dawn of€Moyamoya Disease; 1.1.2 Emergence of€Moyamoya Disease as€a€Globally Recognized Cerebrovascular Disease; 1.2 Road to€Genetic Studies Identifying RNF213 R4810K; 1.3 RNF213 and€Moyamoya Disease; 1.3.1 Molecular Characteristics of€RNF213; 1.3.2 Molecular Pathology of€RNF213; 1.3.3 Involvement of€RNF213 in€Diverse Biological Processes; 1.3.4 Putative Signal Transduction (Fig. 1.3); 1.4 Future Perspectives; References. Chapter 2: Concept of€Moyamoya Disease2.1 Concept and€Pathophysiology; 2.2 Epidemiology; 2.3 Pathological Nature; 2.4 Genome, Epigenome, and€Other Factors in€MMD; References; Part II: Genetic Epidemiology; Chapter 3: Molecular Epidemiology in€East Asian Countries and€in€the€World; 3.1 Discovery Stage: Identification of€RNF213, the€Most Important Founder Susceptibility Gene for€MMD; 3.2 Replication Stage: Replication of€RNF213 as€a€Susceptibility Gene for€MMD Across€Different Ethnicities; 3.2.1 Japanese MMD; 3.2.2 Korean MMD; 3.2.3 Chinese MMD; 3.2.4 Caucasian MMD. 3.3 Significance and€Future Perspectives of€RNF213 on€MMDReferences; Part III: Biochemistry, Function and Molecular Pathology; Chapter 4: Molecular Biology of€Mysterin/RNF213; 4.1 Composition of€the€mysterin Gene; 4.2 Molecular Properties of€Mysterin Protein; 4.2.1 AAA+ ATPase Activity of€Mysterin Protein; 4.2.2 Ubiquitin Ligase Activity of€Mysterin Protein; 4.3 Biological Role of€Mysterin; 4.3.1 Potential Physiological Roles; 4.3.2 Potential Pathogenic Roles; 4.3.3 Perspectives; References; Chapter 5: Physiological Role of€Mysterin/RNF213 in€Zebrafish; 5.1 Introduction. 5.2 Preservation and€Duplication of€the€mysterin Gene in€Zebrafish5.3 Mysterin in€Zebrafish Angiogenesis; 5.4 Mysterin in€Zebrafish Myogenesis; 5.5 Perspectives; References; Chapter 6: Pathological Investigation on€RNF213: Animal Models Knockout and€Transgenic Mice in€Diabetes and€Signal Transduction; 6.1 Introduction; 6.2 Rnf213 KO Mice; 6.2.1 Rnf213 KO Mice Under Normal Conditions; 6.2.2 Rnf213 KO Mice Exposed to€Ischemia and€Hypoxia; 6.2.3 Rnf213 KO Mice and€Diabetes; 6.3 Rnf213 Tg Mice; 6.4 Conclusions; References. Chapter 7: Pathological Investigation on RNF213: Animal Models of Rnf213-Knockout and Knock-in Mice7.1 Introduction; 7.2 Generation of Rnf213-Deficient Mice (Rnf213 −/−) and Their Phenotype; 7.3 Generation of Rnf213-Knock-in Mice and Their Phenotype; 7.4 Explanation Why Rnf213-Mutant Mice Did Not Spontaneously Develop MMD; 7.5 Vascular Remodeling and Angiogenesis Under Ischemic Insults in Rnf213−/−; 7.5.1 Altered Vascular Remodeling Pattern After Common Carotid Artery (CCA) Ligation in Rnf213−/−
• Publisher Details: Singapore : Springer
• Publication Date: 2017
• Extent: 1 online resource
• Subjects: 616.8/1; Moyamoya disease -- Genetic aspects; Moyamoya disease -- Molecular aspects; Moyamoya disease -- Treatment; MEDICAL -- Neurology; MEDICAL -- Diseases; Medicine; Nervous system -- Surgery; Neurology; Public health; Moyamoya Disease -- genetics; Adenosine Triphosphatases -- genetics; Genetic Predisposition to Disease; Moyamoya Disease -- physiopathology; Ubiquitin-Protein Ligases -- genetics; Electronic books; Electronic book
• Languages: English
• ISBNs: 9789811027116; 9811027110
• Related ISBNs: 9789811027109; 9811027102
• Notes: Note: Includes bibliographical references.; Note: Online resource; title from PDF title page (SpringerLink, viewed March 1, 2017).
• 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.