Full 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.
Contents
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 in bone mineral density: principles, practicalities, progress, and potential in bone and mineral disorders, including osteoporosis
4. Functional genomics
5. Epigenetics
6. Bone-on-chip models
7. Mouse models: approaches to generate in vivo models for hereditary disorders of mineral and skeletal homeostasis
8. Bone quality characteristics in zebrafish disease models
9. Prospects of gene therapy for skeletal diseases
10. Genetics and pharmacogenetics of osteoporosis: personalized medicine outlook
Part 2: General background to bone biology
11. Biology of bone and cartilage
12. Overview of bone structure and strength
13. Overview of joint and cartilage biology
14. Osteocyte biology
15. Bone marrow stromal cells/skeletal stem cells
16. Osteoimmunology
17. Genetics of bone fat and energy regulation
18. Central regulation of bone remodeling, genetic evidence
19. Integrating endocrine and paracrine influences on bone: lessons from parathyroid hormone and parathyroid hormone-related protein
20. The fibroblast growth factor-Klotho endocrine system in health and disease
21. Mechano-adaptation and mechano-sensing in skeletal biology
22. The hypoxia signaling pathway in the skeleton
23. Chronobiology and clock genes in bone and mineral metabolism
24. Osteoblastic cell senescence and their contribution to metabolic bone diseases
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. Osteogenesis imperfecta
29. Osteoarthritis: genetic studies of monogenic and complex forms
30. Skeletal dysplasias
31. Sclerosing bone dysplasias
32. Mendelian disorders of RANKL/RANK/OPG/NF-κB signaling
33. Hypophosphatasia and how alkaline phosphatase promotes mineralization
34. Fibrodysplasia ossificans progressiva
35. The melorheostoses
36. Disorders and mechanisms of ectopic calcification
Part 4: Parathyroid and related disorders
37. Hyperparathyroidism
38. Hypoparathyroidism
39. Gsα, pseudohypoparathyroidism, fibrous dysplasia, and McCune-Albright syndrome
40. Genetic disorders caused by mutations in the parathyroid hormone/parathyroid hormone-related peptide receptor, its ligands, and downstream effector molecules
41. The calcium-sensing receptor
42. Multiple endocrine neoplasia syndromes
43. Multiple endocrine and other organ neoplasia syndromes
Part 5: Vitamin D and renal disorders
44. Genetic disorders of vitamin D metabolism and action
45. X-linked hypophosphatemias
46. Autosomal hypophosphatemias
47. Genetics of hypercalciuria and kidney stones
