The genetics of osteoporosis and metabolic bone disease / edited by Michael J. Econs.

Format:

Book

Contributor:

Econs, Michael J.

Language:

English

Subjects (All):

Bones--Metabolism--Disorders--Genetic aspects.

Bones.

Osteoporosis--Genetic aspects.

Osteoporosis.

Disease susceptibility.

Osteoporosis--genetics.

Bone Diseases, Metabolic--genetics.

Genetic Predisposition to Disease.

Genetic Diseases, Inborn.

Bones--Metabolism--Disorders.

Medical Subjects:

Osteoporosis--genetics.

Bone Diseases, Metabolic--genetics.

Genetic Predisposition to Disease.

Genetic Diseases, Inborn.

Physical Description:

xi, 462 pages : illustrations (some color) ; cm

Place of Publication:

Totowa, N.J. : Humana Press, [2000]

Summary:

The explosive growth in the field of molecular biology over the last two decades has started to make a great impact on clinical medicine. The Genetics of Osteoporosis and Metabolic Bone Disease is written by authors who are experts in their field, who are have made important contributions to the understanding of the clinical features and pathophysiology of metabolic bone disease and genetics. The first part of the book addresses issues related to genetic contributions to the development of osteoporosis and the many factors that must be considered when searching for genes that predispose to osteoporosis. The second section 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. This volume is indispensable for endocrinologists, geneticists, and anyone performing research in osteoporosis and bone disease.

Contents:

1 Genetic and Environmental Determinants of Variance in Bone Size, Mass, and Volumetric Density of the Proximal Femur / Ego Seeman 1

2 How to Determine If, and by How Much, Genetic Variation Influences Osteoporosis / John L. Hopper 29

3 Vitamin D Receptor Gene Polymorphisms and Bone Mineral Homeostasis / Serge Ferrari, Rene Rizzoli, Jean-Philippe Bonjour 45

4 Type I Collagen Polymorphisms and Osteoporosis / Stuart H. Ralston 61

5 Osteogenesis Imperfecta / Paul A. Dawson, Joan C. Marini 75

6 Vitamin D-Dependent Rickets Type I and Type II / Sachiko Kitanaka, Shigeaki Kato 95

7 Inherited Phosphate Wasting Disorders / Michael J. Econs, Kenneth E. White 111

8 X-Linked Nephrolithiasis/Dent's Disease and Mutations in the C1C-5 Chloride Channel / Steven J. Scheinman, Rajesh V. Thakker 133

9 Genetics of Tumoral Calcinosis / Kandaswamy Jayaraj, Kenneth Lyles 153

10 Fibrous Dysplasia and the McCune-Albright Syndrome / Lee S. Weinstein 163

11 The Molecular Basis for Parathyroid Hormone Resistance in Pseudohypoparathyroidism / Michael A. Levine 179

12 Fibrodysplasia Ossificans Progressiva / Eileen M. Shore, John G. Rogers, Roger Smith, Francis H. Gannon, Martin Delatycki, J. Andoni Urtizberea, James Triffitt, Martine Le Merrer, Frederick S. Kaplan 211

13 Disorders Resulting from Inactivating or Activating Mutations in the Ca[superscript 2+ subscript o]-Sensing Receptor / Edward M. Brown 237

14 Multiple Endocrine Neoplasia Type 1 (MEN1) / Rajesh V. Thakker 275

15 The Ret Signaling System and Its Role in Hereditary Medullary Thyroid Carcinoma / Robert F. Gagel, Gilbert Cote 295

16 Genetics of Paget's Disease of Bone / Frederick R. Singer, Robin J. Leach 309

17 Osteopetrosis / L. Lyndon Key, Jr. 319

18 Hypophosphatasia / Michael P. Whyte 335

19 Jansen and Blomstrand: Two Human Chondrodysplasias Caused by PTH/PTHrP Receptor Mutations / Harald Juppner, Caroline Silve 357

20 Genetic Linkage Analysis in Human Disease / Suzanne M. Leal, Marcy C. Speer 377

21 The Identification of Disease Genes in a Candidate Region / Fiona Francis, Tim M. Strom 415

22 Finding Mutations in Disease Genes / Peter S. N. Rowe 431.

Notes:

Includes bibliographical references and index.

ISBN:

0896037029

OCLC:

42861980