Beschreibung
The explosive growth in the field of molecular biology over the last two decades has started to make a great impact on clinical medicine. Genes have been cloned for diseases that were poorly understood only a decade ago. Additionally, investigators are increasingly aware that there are strong genetic components to complex disorders, such as osteoporosis, that are not classically thought of as genetic disorders. New insights into the pathogenesis of metabolic bone diseases have been obtained from investigations into the molecular biology of these diseases and new therapies will become available based on these new insights. In The Genefies of Osteoporosis and Metabolie Bane Disease, I have assembled an internationally renowned group of experts to write the various chapters. Each of the authors is an expert in his/her field who is currently performing research on the content of their chapter and have made important contributions to the understanding of the clinical fea tures and pathophysiology of metabolic bone disease and genetics. The first part of The Genefies of Osteoporosis and Metabolie Bane Disease addresses issues related to genetic contributions to the development of osteoporosis and the many factors that must be considered when searching for genesthat predispose to osteoporosis. The second sec tion addresses recent advances in the clinical and molecular biological aspects of inherited metabolic bone disorders. The last section reviews the latest techniques for finding genes that predispose to metabolic bone diseases.
Inhaltsverzeichnis
Genetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur, Ego Seeman. How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis, John L. Hopper. Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis, Serge Ferrari, Rene Rizzoli, and Jean-Philippe Bonjour. Type 1 Collagen Polymorphisms and Osteoporosis, Stuart H. Ralston. Osteogenesis Imperfecta, Paul A. Dawson and Joan C. Marini. Vitamin D-Dependent Rickets Type I and Type II, Sachiko Kitanaka and Shigeaki Kato. Inherited Phosphate Wasting Disorders, Michael J. Econs and Kenneth E. White. X-Linked Nephrolithiasis/Dent''s Disease and Mutations in the ClC-5 Chloride Channel, Steven J. Scheinman and Rajesh V. Thakker. Genetics of Tumoral Calcinosis, Kandaswamy Jayaraj and Kenneth Lyles. Fibrous Dysplasia and the McCune-Albright Syndrome, Lee S. Weinstein. The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism, Michael A. Levine. Fibrodysplasia Ossificans Progressiva, Eileen M. Shore, John G. Rogers, Roger Smith, Francis H. Gannon, Martin Delatycki, J. Andoni Urtizberea, James Triffitt, Martine Le Merrer, and Frederick S. Kaplan. Disorders Resulting from Inactivating or Activating Mutations in the Ca2+o-Sensing Receptor, Edward M. Brown. Multiple Endocrine Neoplasia Type 1 (MEN1), Rajesh V. Thakker. The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma, Robert F. Gagel and Gilbert Cote. Genetics of Paget''s Disease of Bone, Frederick R. Singer and Robin J. Leach. Osteopetrosis, L. Lyndon Key, Jr. Hypophosphatasia, Michael P. Whyte. Jansen and Blomstrand: Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations, Harald Jüppner and Caroline Silve. Genetic Linkage Analysis in Human Disease, Suzanne M. Leal and Marcy C. Speer. The Identification of Disease Genes in a Candidate Region, Fiona Francis and Tim M. Strom. Finding Mutations in Disease Genes, Peter S. N. Rowe. Index.
Autorenporträt
InhaltsangabeGenetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur, Ego Seeman. How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis, John L. Hopper. Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis, Serge Ferrari, René Rizzoli, and Jean-Philippe Bonjour. Type 1 Collagen Polymorphisms and Osteoporosis, Stuart H. Ralston. Osteogenesis Imperfecta, Paul A. Dawson and Joan C. Marini. Vitamin D-Dependent Rickets Type I and Type II, Sachiko Kitanaka and Shigeaki Kato. Inherited Phosphate Wasting Disorders, Michael J. Econs and Kenneth E. White. X-Linked Nephrolithiasis/Dent's Disease and Mutations in the ClC-5 Chloride Channel, Steven J. Scheinman and Rajesh V. Thakker. Genetics of Tumoral Calcinosis, Kandaswamy Jayaraj and Kenneth Lyles. Fibrous Dysplasia and the McCune-Albright Syndrome, Lee S. Weinstein. The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism, Michael A. Levine. Fibrodysplasia Ossificans Progressiva, Eileen M. Shore, John G. Rogers, Roger Smith, Francis H. Gannon, Martin Delatycki, J. Andoni Urtizberea, James Triffitt, Martine Le Merrer, and Frederick S. Kaplan. Disorders Resulting from Inactivating or Activating Mutations in the Ca2+o-Sensing Receptor, Edward M. Brown. Multiple Endocrine Neoplasia Type 1 (MEN1), Rajesh V. Thakker. The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma, Robert F. Gagel and Gilbert Cote. Genetics of Paget's Disease of Bone, Frederick R. Singer and Robin J. Leach. Osteopetrosis, L. Lyndon Key, Jr. Hypophosphatasia, Michael P. Whyte. Jansen and Blomstrand: Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations, Harald Jüppner and Caroline Silve. Genetic Linkage Analysis in Human Disease, Suzanne M. Leal and Marcy C. Speer. The Identification of Disease Genes in a Candidate Region, Fiona Francis and Tim M. Strom. Finding Mutations in Disease Genes, Peter S. N. Rowe.Index.
