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The Molecular Mechanisms of Axenfeld-Rieger Syndrome
by Brad A. Amendt

The Molecular Mechanisms of Axenfeld-Rieger Syndrome the current research and clinical findings of the heterogeneous disorder termed Axenfeld-Rieger Syndrome (ARS).

The Molecular Mechanisms of Axenfeld-Rieger Syndrome provides an in-depth analysis of this phenotypic diverse disorder and is designed to detail the current molecular and biochemical research involved in studying genetic defects.

Contents

1. Identification of the Gene Involved in 4q25-Linked Axenfeld-Rieger Syndrome, PITX2

  • Cloning of the PITX2 Gene and Identification of Mutations in Axenfeld-Rieger Syndrome Patients

2. Winged Helix/Forkhead Transcription Factors and Rieger Syndrome

  • Genetic Characterization of 6q25 Glaucoma Phenotypes
  • Positional Cloning of FOXC1
  • Winged Helix/Forkhead Gene Family
  • FOXC1 Mutations Cause Anterior Segment Anomalies
  • Functional Characterization of FOXC1
  • FOXC1 Expression
  • Other Forkhead Genes and Anterior Eye Chamber Defects
  • Future Directions

3. Rieger Syndrome and PAX6 Deletion

  • Chromosome Analysis
  • Pax6 Expression

4. The Molecular and Biochemical Basis of Axenfeld-Rieger Syndrome

  • Molecular/Biochemical Analysis of PITX2 Transcriptional Activities
  • Biochemical Analysis of PITX2 Mutations Associated with ARS
  • Mechanism of FOXC1 Mutations Associated with ARS
  • Discussion
  • The Role of PITX2 Phosphorylation
  • A Molecular Basis for Phenotypic Variations in ARS Patients
  • The Role of PITX2 Isoforms
  • PITX2D Inhibits the Transcriptional Activity of the Other PITX2 Isoforms
  • PITX2 Mutations
  • FOXC1 Mutations
  • PAX6 Mutations
  • Future Directions

5. Role of PITX2 in the Pituitary Gland

  • Introduction to Pituitary Development and Function
  • Identification of Pitx2
  • Allelic Series of PITX2 Mutations in Mice
  • Cell Trasfections Illustrate the Role of Pitx2 in Pituitary Hormone Production
  • Mutations in PITX2 Are One Cause of Rieger Syndrome

6. Expression and Function of Pitx2 in Chick Heart Looping

  • Chick Cardiac Looping
  • Molecular Cascades Regulating Cardiac Looping
  • Expression and Regulation of Pitx2 in Early Developing Chick Embryo
  • Function of Pitx2 in the Regulation of Heart Looping Direction

7. The Multiple Roles of Pitx2 in Heart Development

  • Pitx2 As a Final Effector in Left Right Asymmetry
  • The Role Pitx2 Isoforms
  • Evidence From Loss of Function Studies in Mice
  • Dosage Dependence for Pitx2 in Heart Development
  • Pitx2 in a Prospective Secondary Heart Field That Contributes to Ventricular and Outflow Tract Myocardium
  • Pitx2 Function in Pulmonary and Systemic Vein Development

8. The Role of PITX2 in Tooth Development

  • Pitx2 Expression Patterns in the Developing Tooth
  • Tooth Epithelial Transcription Factors
  • Transcriptional Mechanisms of PITX2 During Tooth Development
  • A Molecular Basis for Differential Developmental Anomalies in ARS

9. PITX Genes and Ocular Development

  • Ocular Phenotypes Associated with Mutations in PITX2 and PITX3 Human and Mouse Genes
  • Disorders of the Anterior Segment of the Eye: A Variety of Conditions and Causative Genes, Possible Interactions with PITX Factors

10. An Overview of Axenfeld-Rieger Syndrome and the Anterior Segment Developmental Disorders

Index

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The Molecular Mechanisms of Axenfeld-Rieger Syndrome
by Brad A. Amendt
2005 103 pages $141.00 + shipping
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