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 studies in bone mineral density: principles, practicalities, progress, and potential in bone and mineral disorders, including osteoporosis4. Functional genomics5. Epigenetics6. Bone-on-chip models7. Mouse models: approaches to generate in vivo models for hereditary disorders of mineral and skeletal homeostasis8. Bone quality characteristics in zebrafish disease models9. Prospects of gene therapy for skeletal diseases10. Genetics and pharmacogenetics of osteoporosis: personalized medicine outlookPart 2: General background to bone biology11. Biology of bone and cartilage12. Overview of bone structure and strength13. Overview of joint and cartilage biology14. Osteocyte biology15. Bone marrow stromal cells/skeletal stem cells16. Osteoimmunology17. Genetics of bone fat and energy regulation18. Central regulation of bone remodeling, genetic evidence19. Integrating endocrine and paracrine influences on bone: lessons from parathyroid hormone and parathyroid hormone-related protein20. The fibroblast growth factor-Klotho endocrine system in health and disease21. Mechano-adaptation and mechano-sensing in skeletal biology22. The hypoxia signaling pathway in the skeleton23. Chronobiology and clock genes in bone and mineral metabolism24. Osteoblastic cell senescence and their contribution to metabolic bone diseases25. 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 disorders28. Osteogenesis imperfecta29. Osteoarthritis: genetic studies of monogenic and complex forms30. Skeletal dysplasias31. Sclerosing bone dysplasias32. Mendelian disorders of RANKL/RANK/OPG/NF-κB signaling33. Hypophosphatasia and how alkaline phosphatase promotes mineralization34. Fibrodysplasia ossificans progressiva35. The melorheostoses36. Disorders and mechanisms of ectopic calcificationPart 4: Parathyroid and related disorders37. Hyperparathyroidism38. Hypoparathyroidism39. Gsα, pseudohypoparathyroidism, fibrous dysplasia, and McCune-Albright syndrome40. Genetic disorders caused by mutations in the parathyroid hormone/parathyroid hormone-related peptide receptor, its ligands, and downstream effector molecules41. The calcium-sensing receptor42. Multiple endocrine neoplasia syndromes43. Multiple endocrine and other organ neoplasia syndromesPart 5: Vitamin D and renal disorders44. Genetic disorders of vitamin D metabolism and action45. X-linked hypophosphatemias46. Autosomal hypophosphatemias47. Genetics of hypercalciuria and kidney stones
