Genetics of Bone Biology and Skeletal Disease

Genetics of Bone Biology and Skeletal Disease, Third Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid, and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing, and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasia, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyroidism, endocrine neoplasia, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatmentsDemonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disordersSummarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder INDICE: PART 1: GENERAL BACKGROUND TO GENETICS AND 'OMICS 1. Introduction to Genetics of Skeletal and Mineral Metabolic Diseases 2. Genome-Sequencing and Big data analysis 3. Genome-Wide Association Studies 4. Epigenetics 5. Multi-omics approaches in bone research 6. Functional Genomics 7. Organ-on-Chips 8. Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal 9. Emerging therapeutic approaches (including gene therapy) for Skeletal Diseases 10. Pharmacogenetics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook 11. Drug discovery in the era of cryo-electron microscopy (cryoEM) PART 2: GENERAL BACKGROUND TO BONE BIOLOGY 12. Biology of Bone and Cartilage 13. Overview of Bone Structure and Strength 14. Overview of Joint and Cartilage Biology 15. Osteocyte Biology 16. Skeletal Stem Cells/Bone Marrow Stromal Cells 17. Osteoimmunology 18. Senescence in Bone Disease 19. Chronobiology and clock genes, relevance to musculoskeletal health 20. Mechano-sensing in skeletal biology 21. Hypoxia signalling bone and cartilage 22. Integrating Endocrine and Paracrine Influences on Bone; Lessons from Parathyroid Hormone and Parathyroid 23. Genetics of Bone Fat and Energy Regulation 24. The Cross Talk Between the Central Nervous System, Bone, and Energy Metabolism 25. Fetal Control of Calcium and Phosphate Homeostasis 26. Control of Mineral and Skeletal Homeostasis During Pregnancy and Lactation PART 3: DISORDERS OF BONE AND JOINT 27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders. 28. Osteoporosis 29. Osteogenesis Imperfecta 30. Osteoarthritis: Genetic Studies of Monogenic and Complex Forms 31. Mendelian Disorders of RANKL/OPG/RANK/NF-?B Signalling 32. Skeletal Dysplasias 33. Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization 34. Sclerosing Bone Dysplasias 35. Melorheostosis 36. Fibrodysplasia (Myositis) Ossificans Progressiva 37. Craniosynostosis 38. Disorders and Mechanisms of Ectopic Calcification 39. Thyroid Hormone in Bone and Joint Disorders PART 4: PARATHYROID AND RELATED DISORDER 40. Hyperparathyroidism 41. Hypoparathyroidism 42. Gsa, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune-Albright Syndrome 43. Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor, its Ligands, and Downstream Effector Molecules 44. Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis 45. Multiple Endocrine Neoplasia Syndromes PART 5: VITAMIN D AND RENAL DISORDERS 46. Genetic Disorders of Vitamin D Synthesis and Action 47. X-linked hypophosphataemia 48. Heritable Renal Phosphate Wasting Disorders 49. Genetics of Hypercalciuria and Kidney Stones

• ISBN: 978-0-443-13683-2
• Editorial: Academic Press
• Encuadernacion: Cartoné
• Páginas: 900
• Fecha Publicación: 01/01/2025
• Nº Volúmenes: 1
• Idioma: Inglés