The Genetics of Osteoporosis and Metabolic Bone Disease (eBook, PDF)

Redaktion: Econs, Michael J.

• Format: PDF

Produktbeschreibung

Great strides have been made through molecular biology in uncovering the genetic component of many illnesses that until recently were not considered genetic disorders. In The Genetics of Osteoporosis and Metabolic Bone Disease, Michael J. Econs and a distinguished team of internationally renowned experts summarize and review these advances in the understanding of osteoporosis and metabolic bone disease. Topics range from an examination of the genetic contributions to osteoporosis and the many factors that must be considered when searching for genes that predispose to osteoporosis, to recent advances in the clinical and molecular biological aspects of inherited metabolic disorders. The diseases covered are both single gene (Mendelian) traits-such as X-linked hypophosphatemic rickets-and such complex disorders as osteoporosis and Paget's disease. The book includes a discussion of current methodology for finding genes that predispose to metabolic bone diseases. Authoritative and state-of-the-art, The Genetics of Osteoporosis and Metabolic Bone Disease offers today's endocrinologists, rheumatologists, and geneticists a gold-standard compendium of current knowledge and thinking about the genetic disorders of bone and mineral metabolism, and a sound basis for the powerful new genetic therapies.

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Produktdetails

• Verlag: Humana Press
• Seitenzahl: 462
• Erscheinungstermin: 12. Mai 2000
• Englisch
• ISBN-13: 9781592590339
• Artikelnr.: 44054209

Inhaltsangabe

1 - Genetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur.- 2 - How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis.- 3 - Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis.- 4 - Type I Collagen Polymorphisms and Osteoporosis.- 5 - Osteogenesis Imperfecta.- 6 - Vitamin D-Dependent Rickets Type I and Type II.- 7 - Inherited Phosphate Wasting Disorders.- 8 - X-Linked Nephrolithiasis/Dent's Disease and Mutations in the C1C-5 Chloride Channel.- 9 - Genetics of Tumoral Calcinosis.- 10 - Fibrous Dysplasia and the McCune-Albright Syndrome.- 11 - The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism.- 12 - Fibrodysplasia Ossificans Progressiva.- 13 - Disorders Resulting from Inactivating or Activating Mutations in the Cao2+-Sensing Receptor.- 14 - Multiple Endocrine Neoplasia Type 1 (MENI).- 15 - The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma.- 16 - Genetics of Paget's Disease of Bone.- 17 -Osteopetrosis.- 18 - Hypophosphatasia.- 19 - Jansen and Blomstrand: Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations.- 20 - Genetic Linkage Analysis in Human Disease.- 21 - The Identification of Disease Genes in a Candidate Region.- 22 - Finding Mutations in Disease Genes.

Rezensionen

"A concise, well illustrated and easy readable text. The publishers should be commended for the good quality of X-rays."-Journal of Pediatric Endocrinology and Metabolism "Written by a group of international experts, this book is of great interest to pediatricians, pediatric endocrinologists, orthopedic surgeons and geneticists. This volume describes recent advances in the molecular pathology of a series of diseases such as vitamin D receptor defects, collagen diseases, osteogenesis imperfecta, ricketts, calcinosis, fibrous dysplasia, diseases of the parathyroid, etc....A concise, well illustrated and easy readable text. The publishers should be commended for the good quality of X-rays." - Journal of Pediatric Endocrinology and Metabolism