G protein signaling pathways in health and disease /

• Άλλοι συγγραφείς: Tao, Ya-Xiong (Επιμελητής έκδοσης)
• Μορφή: Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cambridge, MA : Academic Press, 2019.
• Σειρά: Progress in molecular biology and translational science ; volume 161.
• Θέματα: Molecular biology.; G proteins > Receptors.; G proteins > Health aspects.; Cellular signal transduction.; SCIENCE > Life Sciences > Biochemistry.; Electronic books.

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-d...

Πίνακας περιεχομένων:

• 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