Title Moyamoya disease explored through RNF213 : genetics, molecular pathology, and clinical sciences / Akio Koizumi, Kazuhiro Nagata, Kiyohiro Houkin, Teiji Tominaga, Susumu Miyamoto, Shigeo Kure, Elizabeth Tournier-Lasserve, editors

Published Singapore : Springer, 2017

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Description 1 online resource Series Current topics in environmental health and preventive medicine Current topics in environmental health and preventive medicine. 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−/− Summary This book presents the latest findings on biological, epidemiological, and clinical investigations of RNF213, which is thought to be involved in many biological processes and plays a key role in cerebro- and cardiovascular disease . By discussing the epidemiology and genetic epidemiology of the disease with a particular focus on the molecular function of RNF213, research using animal models, diagnosis, therapy and clinical management around the world, this work makes a valuable contribution to the study of the disease. Moyamoya Disease Explored Through RNF213 is an indispensable resource for both beginning and experienced researchers, pediatricians, neurologists, and neurosurgeons who are seeking comprehensive information on adult and childhood stroke Bibliography Includes bibliographical references Notes Online resource; title from PDF title page (SpringerLink, viewed March 1, 2017) Subject Moyamoya disease -- Genetic aspects Moyamoya disease -- Molecular aspects Moyamoya disease -- Treatment Moyamoya Disease -- genetics Adenosine Triphosphatases -- genetics Genetic Predisposition to Disease Moyamoya Disease -- physiopathology Ubiquitin-Protein Ligases -- genetics MEDICAL -- Neurology. MEDICAL -- Diseases. Medicine Nervous system -- Surgery Neurology Public health Form Electronic book Author Koizumi, Akio, editor Nagata, Kazuhiro, 1947- editor. Houkin, Kiyohiro, editor Tominaga, Teiji, editor. Miyamoto, Susumu, editor. Kure, Shigeo, editor Tournier-Lasserve, Elizabeth, editor ISBN 9789811027116 9811027110

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