http://www.loc.gov/mods/v3 http://www.loc.gov/standards/mods/v3/mods-3-2.xsd
G protein signaling pathways in health and disease
G Protein Signaling Pathways in Health and Disease, Volume 161 in the Progress in Molecular Biology and Translational Science series, provides informative and exciting monographs on a wide variety of research topics related to G Protein Signaling Pathways in Health and Disease. The series gives in-depth knowledge on the important molecular biological aspects of organismal physiology and function, along with insights on how this knowledge can be applied to understand and ameliorate human disease. This updated release covers Diseases associated with mutations in CNGA3, Mutations in arrestins, Diseases caused by mutations in GPR101, Diseases caused by mutations in lutropin receptor, and much more.
Front Cover; G Protein Signaling Pathways in Health and Disease; Copyright; Contents; Contributors; Preface; Chapter One: Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline; 1. CNGA3 overview; 2. Diseases associated with mutations in CNGA3; 2.1. ACHM caused by CNGA3 mutations; 2.2. CORD caused by CNGA3 mutations; 2.3. LCA caused by CNGA3 mutations; 2.4. OCT caused by CNGA3 mutations; 3. Mutation spectrum and genotype-phenotype correlation; 3.1. CNGA3 is one of the most frequently mutated genes; 3.2. Mutation classification and location
3.3. Pathogenic or benign variants3.4. Genotype-phenotype correlation; 3.5. Gene-specific phenotypes; 4. Diagnostic guideline; 4.1. Symptoms; 4.2. Ocular examination; 4.3. ERG test; 4.4. Gene test; 4.5. Biallelic mutations of CNGA3 in genetic counselling; Acknowledgments; References; Chapter Two: Arrestin mutations: Some cause diseases, others promise cure; 1. Arrestins in mammals: Few subtypes, many functions; 2. Naturally occurring mutations in visual arrestins; 3. Nonvisual arrestins: Unexpectedly few associations with unclear functional significance
4. Enhanced arrestins: Compensation of excessive GPCR activity5. Conclusions; Acknowledgments; References; Chapter Three: Mutations in GPR101 as a potential cause of X-linked acrogigantism and acromegaly; 1. Introduction; 2. Molecular cloning and localization of GPR101; 2.1. Molecular cloning; 2.2. Orthologue alignment; 2.3. Tissue distribution; 2.3.1. GPR101 expression in human; 2.3.2. GPR101 expression in other species; 3. Physiology of GPR101; 3.1. Energy balance; 3.2. Reproduction; 3.3. Cancer; 4. Pharmacology of GPR101; 4.1. Ligand binding and receptor activation; 4.2. Signaling pathways
5. Pathophysiology of GPR1015.1. GPR101 duplication; 5.2. GPR101 mutations; 6. Conclusion; Acknowledgment; References; Chapter Four: Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor; 1. Introduction; 2. Physiology and structure of LHCGR; 3. The LHCGR gene and LHCGR protein; 4. Signaling pathways activated by the LHCGR; 5. Activating mutations of the LHCGR; 6. Inactivating mutations of the LHCGR; 6.1. Leydig cell hypoplasia; 6.2. Empty follicle syndrome; 6.3. Diseases associated with polymorphisms of LHCGR gene; 7. Potential therapeutic strategies; References
Includes bibliographical references and index.
Progress in molecular biology and translational science ; volume 161