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Books > Medicine > Clinical & internal medicine > Musculoskeletal medicine
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Genetics of Bone Biology and Skeletal Disease (Hardcover, 2nd edition)
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Genetics of Bone Biology and Skeletal Disease (Hardcover, 2nd edition)
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Genetics of Bone Biology and Skeletal Disease, Second 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
dysplasias, 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, hypoparathyrodism, endocrine neoplasias, 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.
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