Mouse models of developmental genetic disease / edited by Robert S. Krauss. — Amsterdam : Elsevier, c2008. – (58.12/C976/v.84)

Contents

    CONTENTS
    
    Contributors Preface
    1. Modeling Neural Tube Defects in the Mouse
     1. Introduction
     2. Examples of Mouse as a Multifactorial Threshold Model for the Inheritance of NTDs
     3. Mouse Models of NTDs Have Identified Candidate Genes for NTDs in Humans
     4. Mouse as a Model for the Elucidation of the Molecular Mechanisms of Gene-Environment Interactions Contributing to NTDs
     5. Mouse as a Model for Developing Approaches to Prevent NTDs
     6. Conclusions and Future Directions
     References
    2. The Etiopathogenesis of Cleft Lip and Cleft Palate: Usefulness and Caveats of Mouse Models
     1. Introduction
     2. The Genetic Etiology of CL/P and CPO
     3. Embryonic Development of the Upper Lip， Primary Palate and Secondary Palate
     4. Cellular and Molecular Mechanisms Governing Lip and Palate Development: Insights from Mouse Models for CL/P and CPO
     5. Caveats for Using Mouse Models for Orofacial Clefting
     6. Concluding Remarks Acknowledgments References
    3. Murine Models of Holoprosencephaly
     1. Introduction
     2. Human HPE
     3. Development of the Forebrain--A Delicate Balance
     4. Mouse Models of HPE
     5. Conclusions and Perspectives
     Acknowledgments
     References
    4. Mouse Models of Congenital Cardiovascular Disease
     1. Introduction
     2. An Overview of Cardiac Development in the Mouse
     3. From Human to Mouse: Using Mouse Models to Understand How Mutations Identified in Humans Cause Congenital Cardiovascular Disease
     4. From Mouse to Human: Using Mouse Models to Discover Novel Factors and Pathways That Regulate Cardiovascular Development
     5. Conclusion
     Acknowledgments
     References
    5. Modeling Ciliopathies: Primary Cilia in Development and Disease
     1. The Human Ciliopathies
     2. Bardet-Biedl Syndrome
     3. Alstr6m Syndrome
     4. Polycystic Kidney Disease
     5. Nephronophthisis
     6. Meckel Syndrome
     7. Joubert Syndrome
     8. Jeune Syndrome
     9. Oral-Facial-Digital Syndrome
     10. The Structure and Function of the Cilium
     11. Cilia and Development
     12. Therapies for Cystic Disease
     13. Concluding Remarks References
    6. Mouse Models of Polycystic Kidney Disease
     1. Introduction
     2. The PKD Genes
     3. Genocopy Mouse Models of PKD
     4. PKD: The Human Diseases
     5. Phenotypic Mouse Models of PKD
     6. Normal Mammalian Kidney Development
     7. The PKD Proteins
     8. Mechanisms of Renal Cyst Formation
     9. Future Perspectives
     Acknowledgments
     References
    7. Fraying at the Edge: Mouse Models of Diseases Resulting from Defects at the Nuclear Periphery
     1. Introduction
     2. The Laminopathies
     3. Mouse Models for the A-Type Laminopathies
     4. Progeroid Syndromes
     5. Laminopathies Associated with Mutations in the B-Type Lamins
     6. Molecular Mechanisms Underlying the Laminopathies
     7. Disease and Anomalies Caused by Mutations in Other NE Associated Proteins
     8. Conclusions
     References
    8. Mouse Models of Human Hereditary Deafness
     1. Introduction
     2. The Mammalian Peripheral Auditory System
     3. Human Congenital Deafness
     4. Mouse Models for Human Hereditary Deafness
     5. Concluding Remarks
     Acknowledgments
     References
    9. The Value of Mammalian Models for Duchenne Muscular Dystrophy in Developing Therapeutic Strategies
     1. Introduction
     2. The mdx Mouse Models of DMD
     3. mdx:utrophin Double Knockout Mouse Model
     4. The cxmd Canine Model
     5. Conclusions
     Acknowledgments
     References
    Index
    Contents of Previous Volumes