Osteogenesis Imperfecta

Publisher Elsevier Science

Format

eBook

2nd Edition 1st Edition

Quantity

Add New

Publisher

Elsevier Science

Volume

Copyright

2013

ISBN13

9780123977892

Release

Format

eBook

Grade Level

College Freshman - College Senior

DDC
TBD

Overview

Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI.
Cover Page.
Half Title Page.
Title Page.
Copyright Page.
Dedication.
Contents.
Foreword.
Acknowledgments.
List of Contributors.
1: Introduction.
2: Introduction to Osteogenesis Imperfecta.
3: Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta.
4: Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology.
5: The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership.
6: Bone Biology, Structure and Biochemistry.
7: Mineralized Tissue: Histology, Biology and Biochemistry.
8: Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta.
9: The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens.
10: Collagen Structure, Folding and Function.
11: Bone Matrix Proteoglycans in Skeletal Function.
12: Clinical and Molecular Genetics of Osteogenesis Imperfecta.
13: Patterns of Inheritance in Osteogenesis Imperfecta.
14: Osteogenesis Imperfecta Genotypes and Genotype–phenotype Relationships.
15: COL1A1 and COL1A2 Mutations.
16: Structural Consequences of Glycine Missense Mutations in Osteogenesis Imperfecta.
17: Haploinsufficiency for Mutations in Type I Collagen Genes: Mechanisms and Clinical Effects.
18: Sequence Alterations in the Carboxyl-Terminal Propeptide Domain.
19: Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB.
20: FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome.
21: Serpinh1 and Osteogenesis Imperfecta.
22: Serpinf1 as a Cause of Osteogenesis Imperfecta Type VI.
23: Osx/Sp7 Mutations and Osteogenesis Imperfecta.
24: Bmp1 Mutations in Autosomal Recessive Osteogenesis Imperfecta.
25: Osteogenesis Imperfecta Type V.
26: Animal Models of Osteogenesis Imperfecta.
27: Animal Models of Osteogenesis Imperfecta.
28: Brittle Bone Overlap Phenotypes: TGF-Beta Mutations and Bone.
29: Transforming Growth Factor Beta and Bone: Lessons
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Osteogenesis Imperfecta

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Table of Contents