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.
1. Chapter 1. Introduction to genetics of skeletal and mineral metabolic diseases - p. 3 2. Chapter 2. Genome sequencing and Big Data analysis - p. 29 3. Chapter 3. Genome-wide association studies in bone mineral density: principles, practicalities, progress, and potential in bone and mineral disorders including osteoporosis - p. 49 4. Chapter 4. Functional genomics - p. 61 5. Chapter 5. Epigenetics - p. 75 6. Chapter 6. Bone-on-chip models - p. 83 7. Chapter 7. Mouse models: approaches to generate in vivo models for hereditary disorders of mineral and skeletal homeostasis - p. 105 8. Chapter 8. Bone quality characteristics in zebrafish disease models - p. 143 9. Chapter 9. Prospects of gene therapy for skeletal diseases - p. 159 10. Chapter 10. Genetics and pharmacogenetics of osteoporosis: personalized medicine outlook - p. 185 11. Part 2: General background to bone biology - p. P2 12. Chapter 11. Biology of bone and cartilage - p. 213 13. Chapter 12. Overview of bone structure and strength - p. 251 14. Chapter 13. Overview of joint and cartilage biology - p. 265 15. Chapter 14. Osteocyte biology - p. 285 16. Chapter 15. Bone marrow stromal cells/skeletal stem cells - p. 303 17. Chapter 16. Osteoimmunology - p. 327 18. Chapter 17. Genetics of bone fat and energy regulation - p. 349 19. Chapter 18. The central regulation of bone remodeling - p. 367 20. Chapter 19. Integrating endocrine and paracrine influences on bone: lessons from parathyroid hormone and parathyroid hormone-related protein - p. 377 21. Chapter 20. The fibroblast growth factor-Klotho endocrine system in health and disease - p. 395 22. Chapter 21. Mechano-adaptation and mechano-sensing in skeletal biology - p. 415 23. Chapter 22. The hypoxia signaling pathway in the skeleton - p. 431 24. Chapter 23. Chronobiology and clock genes in bone and mineral metabolism - p. 449 25. Chapter 24. Osteoblastic cell senescence and their contribution to metabolic bone diseases - p. 465 26. Chapter 25. Fetal control of calcium and phosphate homeostasis - p. 487 27. Chapter 26. Control of mineral and skeletal homeostasis during pregnancy and lactation - p. 511 28. Part 3: Disorders of bone and joint - p. P3 29. Chapter 27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders - p. 543 30. Chapter 28. Osteogenesis imperfecta - p. 579 31. Chapter 29. Osteoarthritis: genetic studies of monogenic and complex forms - p. 615 32. Chapter 30. Skeletal dysplasias - p. 637 33. Chapter 31. Sclerosing bone dysplasias - p. 651 34. Chapter 32. Mendelian disorders of RANKL/RANK/OPG/NF-κB signaling - p. 669 35. Chapter 33. Hypophosphatasia and how alkaline phosphatase promotes mineralization - p. 687 36. Chapter 34. Fibrodysplasia ossificans progressiva - p. 715 37. Chapter 35. The melorheostoses - p. 747 38. Chapter 36. Disorders and mechanisms of ectopic calcification - p. 761 39. Part 4: Parathyroid and related disorder - p. P4 40. Chapter 37. Hyperparathyroidism - p. 793 41. Chapter 38. Hypoparathyroidism - p. 815 42. Gsα, pseudohypoparathyroidism, fibrous dysplasia, and McCune–Albright syndrome - p. 835 43. Chapter 40. Genetic disorders caused by mutations in the parathyroid hormone/parathyroid hormone-related peptide receptor, its ligands, and downstream effector molecules - p. 855 44. Chapter 41. The calcium-sensing receptor - p. 881 45. Chapter 42. Multiple endocrine neoplasia syndromes - p. 919 46. Chapter 43. Multiple endocrine and other organ neoplasia syndromes - p. 947 47. Part 5: Vitamin D and renal disorders - p. P5 48. Chapter 44. Genetic disorders of vitamin D metabolism and action - p. 965 49. Chapter 45. X-linked hypophosphatemias - p. 993 50. Chapter 46. Autosomal hypophosphatemias - p. 1007 51. Chapter 47. Genetics of hypercalciuria and kidney stones - p. 1021 52. Index - p. 1045
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.
1. Chapter 1. Introduction to genetics of skeletal and mineral metabolic diseases - p. 3 2. Chapter 2. Genome sequencing and Big Data analysis - p. 29 3. Chapter 3. Genome-wide association studies in bone mineral density: principles, practicalities, progress, and potential in bone and mineral disorders including osteoporosis - p. 49 4. Chapter 4. Functional genomics - p. 61 5. Chapter 5. Epigenetics - p. 75 6. Chapter 6. Bone-on-chip models - p. 83 7. Chapter 7. Mouse models: approaches to generate in vivo models for hereditary disorders of mineral and skeletal homeostasis - p. 105 8. Chapter 8. Bone quality characteristics in zebrafish disease models - p. 143 9. Chapter 9. Prospects of gene therapy for skeletal diseases - p. 159 10. Chapter 10. Genetics and pharmacogenetics of osteoporosis: personalized medicine outlook - p. 185 11. Part 2: General background to bone biology - p. P2 12. Chapter 11. Biology of bone and cartilage - p. 213 13. Chapter 12. Overview of bone structure and strength - p. 251 14. Chapter 13. Overview of joint and cartilage biology - p. 265 15. Chapter 14. Osteocyte biology - p. 285 16. Chapter 15. Bone marrow stromal cells/skeletal stem cells - p. 303 17. Chapter 16. Osteoimmunology - p. 327 18. Chapter 17. Genetics of bone fat and energy regulation - p. 349 19. Chapter 18. The central regulation of bone remodeling - p. 367 20. Chapter 19. Integrating endocrine and paracrine influences on bone: lessons from parathyroid hormone and parathyroid hormone-related protein - p. 377 21. Chapter 20. The fibroblast growth factor-Klotho endocrine system in health and disease - p. 395 22. Chapter 21. Mechano-adaptation and mechano-sensing in skeletal biology - p. 415 23. Chapter 22. The hypoxia signaling pathway in the skeleton - p. 431 24. Chapter 23. Chronobiology and clock genes in bone and mineral metabolism - p. 449 25. Chapter 24. Osteoblastic cell senescence and their contribution to metabolic bone diseases - p. 465 26. Chapter 25. Fetal control of calcium and phosphate homeostasis - p. 487 27. Chapter 26. Control of mineral and skeletal homeostasis during pregnancy and lactation - p. 511 28. Part 3: Disorders of bone and joint - p. P3 29. Chapter 27. Gene discoveries and novel therapies in monogenic low and high bone mass disorders - p. 543 30. Chapter 28. Osteogenesis imperfecta - p. 579 31. Chapter 29. Osteoarthritis: genetic studies of monogenic and complex forms - p. 615 32. Chapter 30. Skeletal dysplasias - p. 637 33. Chapter 31. Sclerosing bone dysplasias - p. 651 34. Chapter 32. Mendelian disorders of RANKL/RANK/OPG/NF-κB signaling - p. 669 35. Chapter 33. Hypophosphatasia and how alkaline phosphatase promotes mineralization - p. 687 36. Chapter 34. Fibrodysplasia ossificans progressiva - p. 715 37. Chapter 35. The melorheostoses - p. 747 38. Chapter 36. Disorders and mechanisms of ectopic calcification - p. 761 39. Part 4: Parathyroid and related disorder - p. P4 40. Chapter 37. Hyperparathyroidism - p. 793 41. Chapter 38. Hypoparathyroidism - p. 815 42. Gsα, pseudohypoparathyroidism, fibrous dysplasia, and McCune–Albright syndrome - p. 835 43. Chapter 40. Genetic disorders caused by mutations in the parathyroid hormone/parathyroid hormone-related peptide receptor, its ligands, and downstream effector molecules - p. 855 44. Chapter 41. The calcium-sensing receptor - p. 881 45. Chapter 42. Multiple endocrine neoplasia syndromes - p. 919 46. Chapter 43. Multiple endocrine and other organ neoplasia syndromes - p. 947 47. Part 5: Vitamin D and renal disorders - p. P5 48. Chapter 44. Genetic disorders of vitamin D metabolism and action - p. 965 49. Chapter 45. X-linked hypophosphatemias - p. 993 50. Chapter 46. Autosomal hypophosphatemias - p. 1007 51. Chapter 47. Genetics of hypercalciuria and kidney stones - p. 1021 52. Index - p. 1045
