The Genetics of Osteoporosis and Metabolic Bone Disease

Buch | Hardcover

462 Seiten

2000
Humana Press Inc. (Verlag)
978-0-89603-702-1 (ISBN)

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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.

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.

Erscheint lt. Verlag	12.5.2000
Zusatzinfo	XII, 462 p.
Verlagsort	Totowa, NJ
Sprache	englisch
Maße	155 x 235 mm
Themenwelt	Medizinische Fachgebiete ► Chirurgie ► Unfallchirurgie / Orthopädie
	Medizinische Fachgebiete ► Innere Medizin ► Endokrinologie
	Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik
ISBN-10	0-89603-702-9 / 0896037029
ISBN-13	978-0-89603-702-1 / 9780896037021
Zustand	Neuware