Description
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.Sections cover bone biology and structure, joint and cartilage biology, principles of endocrine regulation, the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasia, rarer bone disorders, and much more.- 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 treatments- Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function- Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Table of Contents
PART 1: GENERAL BACKGROUND TO GENETICS AND 'OMICS1. Introduction to Genetics of Skeletal and Mineral Metabolic Diseases2. Genome-Sequencing and Big data analysis3. Genome-Wide Association Studies4. Epigenetics5. Multi-omics approaches in bone research6. Functional Genomics7. Organ-on-Chips8. Mouse Models: Approaches to Generate In Vivo Models for Hereditary Disorders of Mineral and Skeletal9. Emerging therapeutic approaches (including gene therapy) for Skeletal Diseases10. Pharmacogenetics and Pharmacogenomics of Osteoporosis: Personalized Medicine Outlook11. Drug discovery in the era of cryo-electron microscopy (cryoEM)PART 2: GENERAL BACKGROUND TO BONE BIOLOGY12. Biology of Bone and Cartilage13. Overview of Bone Structure and Strength14. Overview of Joint and Cartilage Biology15. Osteocyte Biology16. Skeletal Stem Cells/Bone Marrow Stromal Cells17. Osteoimmunology18. Senescence in Bone Disease19. Chronobiology and clock genes, relevance to musculoskeletal health20. Mechano-sensing in skeletal biology21. Hypoxia signalling bone and cartilage22. Integrating Endocrine and Paracrine Influences on Bone; Lessons from Parathyroid Hormone and Parathyroid23. Genetics of Bone Fat and Energy Regulation24. The Cross Talk Between the Central Nervous System, Bone, and Energy Metabolism25. Fetal Control of Calcium and Phosphate Homeostasis26. Control of Mineral and Skeletal Homeostasis During Pregnancy and LactationPART 3: DISORDERS OF BONE AND JOINT27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders.28. Osteoporosis29. Osteogenesis Imperfecta30. Osteoarthritis: Genetic Studies of Monogenic and Complex Forms31. Mendelian Disorders of RANKL/OPG/RANK/NF-κB Signalling32. Skeletal Dysplasias33. Hypophosphatasia and How Alkaline Phosphatase Promotes Mineralization34. Sclerosing Bone Dysplasias35. Melorheostosis36. Fibrodysplasia (Myositis) Ossificans Progressiva37. Craniosynostosis38. Disorders and Mechanisms of Ectopic Calcification39. Thyroid Hormone in Bone and Joint DisordersPART 4: PARATHYROID AND RELATED DISORDER40. Hyperparathyroidism41. Hypoparathyroidism42. Gsα, Pseudohypoparathyroidism, Fibrous Dysplasia, and McCune–Albright Syndrome43. Genetic Disorders Caused by Mutations in the PTH/PTHrP Receptor, its Ligands, and Downstream Effector Molecules44. Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis45. Multiple Endocrine Neoplasia SyndromesPART 5: VITAMIN D AND RENAL DISORDERS46. Genetic Disorders of Vitamin D Synthesis and Action47. X-linked hypophosphataemia48. Heritable Renal Phosphate Wasting Disorders49. Genetics of Hypercalciuria and Kidney Stones
