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Osteogenesis imperfecta [electronic resource] : a translational approach to brittle bone disease

Osteogenesis imperfecta [electronic resource] : a translational approach to brittle bone disease

Material type
E-Book(소장)
Personal Author
Shapiro, Jay R. Byers, Peter H. Glorieux, Francis H. Sponseller, Paul D.
Title Statement
Osteogenesis imperfecta [electronic resource] : a translational approach to brittle bone disease / editor: Jay R. Shapiro, MD, Department of Bone and Osteogenesis Imperfecta, Kennesy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA ; associate editors: Peter H. Byers, MD, PhD, Department of Pathology, University of Washington, Seattle, WA, USA, Francis H. Glorieux, MD, PhD, Shriners Hospital for Children, Department of Human Gene, Montreal, QC, Canada, Paul D. Sponseller, MD, Department of Orthopedic Surgery, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Publication, Distribution, etc
London :   Academic Press,   2014.  
Physical Medium
1 online resource (xxii, 555 p.) : ill.
ISBN
9780123977892 (electronic bk.) 0123977894 (electronic bk.)
요약
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.
General Note
Title from e-Book title page.  
Content Notes
I. Introduction -- II. Bone biology, structure and biochemistry -- III. Clinical and molecular genetics of osteogenesis imperfecta -- IV. COL1A1 and COL1A2 mutations -- V. Animal models of osteogenesis imperfecta -- VI. Brittle bone overlap phenotypes : TGF-beta mutations and bone -- VII. Clinical aspects of osteogenesis imperfecta -- VIII. Organ involvement in osteogenesis imperfecta -- IX. Orthopedics -- X. Physical medicine and rehabilitation -- XI. Pharmacologic treatment of osteogenesis imperfecta -- XII. Genetic approach to treatment of osteogenesis imperfecta.
Bibliography, Etc. Note
Includes bibliographical references and index.
이용가능한 다른형태자료
Issued also as a book.  
Subject Added Entry-Topical Term
Osteogenesis imperfecta. Osteogenesis Imperfecta.
Short cut
ScienceDirect   URL
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245 0 0 ▼a Osteogenesis imperfecta ▼h [electronic resource] : ▼b a translational approach to brittle bone disease / ▼c editor: Jay R. Shapiro, MD, Department of Bone and Osteogenesis Imperfecta, Kennesy Krieger Institute, Johns Hopkins University, Baltimore, MD, USA ; associate editors: Peter H. Byers, MD, PhD, Department of Pathology, University of Washington, Seattle, WA, USA, Francis H. Glorieux, MD, PhD, Shriners Hospital for Children, Department of Human Gene, Montreal, QC, Canada, Paul D. Sponseller, MD, Department of Orthopedic Surgery, Johns Hopkins School of Medicine, Baltimore, MD, USA.
260 ▼a London : ▼b Academic Press, ▼c 2014.
300 ▼a 1 online resource (xxii, 555 p.) : ▼b ill.
500 ▼a Title from e-Book title page.
504 ▼a Includes bibliographical references and index.
505 0 ▼a I. Introduction -- II. Bone biology, structure and biochemistry -- III. Clinical and molecular genetics of osteogenesis imperfecta -- IV. COL1A1 and COL1A2 mutations -- V. Animal models of osteogenesis imperfecta -- VI. Brittle bone overlap phenotypes : TGF-beta mutations and bone -- VII. Clinical aspects of osteogenesis imperfecta -- VIII. Organ involvement in osteogenesis imperfecta -- IX. Orthopedics -- X. Physical medicine and rehabilitation -- XI. Pharmacologic treatment of osteogenesis imperfecta -- XII. Genetic approach to treatment of osteogenesis imperfecta.
520 ▼a 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.
530 ▼a Issued also as a book.
538 ▼a Mode of access: World Wide Web.
650 0 ▼a Osteogenesis imperfecta.
650 2 ▼a Osteogenesis Imperfecta.
700 1 ▼a Shapiro, Jay R.
700 1 ▼a Byers, Peter H.
700 1 ▼a Glorieux, Francis H.
700 1 ▼a Sponseller, Paul D.
856 4 0 ▼3 ScienceDirect ▼u https://oca.korea.ac.kr/link.n2s?url=http://www.sciencedirect.com/science/book/9780123971654
945 ▼a KLPA
991 ▼a E-Book(소장)

Holdings Information

No. Location Call Number Accession No. Availability Due Date Make a Reservation Service
No. 1 Location Main Library/e-Book Collection/ Call Number CR 616.716 Accession No. E14004773 Availability Loan can not(reference room) Due Date Make a Reservation Service M

Contents information

Table of Contents

Front Cover; Osteogenesis Imperfecta; Copyright Page; Dedication; Contents; Foreword; Acknowledgments; List of Contributors; I: INTRODUCTION; Introduction to Osteogenesis Imperfecta; 1. Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Bas...; Advances in Collagen Protein Biochemistry Led to Identification of the First OI Mutations; Molecular Biology of Collagen Genes and its Relevance to OI Research; A Return to Research in Matrix Biology; Collagen and Molecular Chaperones; Defects in Mineralization; Whole Gene Deletions
Patient and Parent Support Organizations and the Facilitation of Research in OIReviews and Doctoral Theses; Pamidronate Modified OI (Less Severe); Future Research; References; 2. Clinical and Genetic Classification of Osteogenesis Imperfecta and Epidemiology; Introduction; Clinical and Genetic Classifications of OI; Epidemiology of OI; References; 3. The Osteogenesis Imperfecta Community and Scientific Research: A Valuable Partnership; OI Foundation History; OI Research is Complicated; The Role of the OI Foundation in Research; A Model that Works; But Wait, There''s More; In Conclusion
II: BONE BIOLOGY, STRUCTURE AND BIOCHEMISTRY4. Mineralized Tissue: Histology, Biology and Biochemistry; Introduction; Methodology; Tissue Sources; Analyses and How they Inform About Normal Vs. OI Bone as a Function of Age; Matrix and Whole Tissue Analysis; Histology; Electron Microscopy; Ftir and Raman Microspectroscopy and Imaging; Mineral Analyses; X-Ray Diffraction; Small-Angle Scattering; Quantitative Backscattered Electron Imaging; Chemical Analyses; Micro-Computed Tomography; Recent Biochemical and Genetic Analysis Related to Mineralization Processes
Normal and OI Mineralization ProcessesConclusions; Acknowledgments; References; 5. Osteoblast/Osteoclast Development and Function in Osteogenesis Imperfecta; Introduction; Bone Components; Osteoblasts; Osteoclasts; Collagen; Collagen Feedback; Matrix Elaboration; Mutations in OI; Autosomal Dominant Mutations; Autosomal Recessive Mutations; Consequences; Skin and Fibroblasts in OI; In Vitro Effects on Collagen; In Vitro Effects in Other Molecular and Cellular Domains; Bone and Cells in the Osteoblastic Lineage in OI; In Vitro Effects on Osteoblasts
In Vitro Effects in Other Molecular and Cellular DomainsOsteoblast Differentiation; Osteoclasts in OI; Pathways Leading to Altered Osteoblast Differentiation; References; 6. The Collagen Folding Machinery: Biosynthesis and Post-Translational Modifications of Collagens; Introduction; Procollagen Biosynthesis; A New Paradigm in OI; Discovery of the P3H1/CRTAP/CypB Complex; Role of the Prolyl 3-Hydroxylase 1 Complex in OI; Covering the Gap between Genotype and Phenotype; What Happens to Type I Collagen when the P3H1 Complex is not Working Properly?
The Amount of 3-Hydroxyproline in Type I Collagen is Generally Greatly Reduced when Components of the Complex are Missing o...

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