Molecular biology of eye disease

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Sprache:English
Veröffentlicht: Amsterdam Acad. Press 2015
Ausgabe:1. ed.
Schriftenreihe:Progress in molecular biology and translational science 134
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adam_text Titel: Molecular biology of eye disease Autor: Hejtmancik, J. Fielding Jahr: 2015 CONTENTS Contributors xv Preface xix 1. Overview of the Visual System 1 J. Fielding Hejtmancik and John M. Nickerson Section I Cornea 2. Overview of the Cornea: Structure, Function, and Development 7 Allen O. Eghrari, S. Amer Riazuddin, and John D. Gottsch 1. Structure 8 2. Function 12 3. Development 16 Acknowledgments 20 References 20 3. Stem Cells in the Cornea 25 Andrew J. Flertsenberg and James L. Funderburgh 1. Corneal Epithelial Stem Cells 26 2. Corneal Stromal Stem Cells 31 3. Corneal Endothelium Stem/Progenitor Cells 34 References 36 4. Corneal Development: Different Cells from a Common Progenitor 43 Peter Y. Lwigale 1. Embryonic Origin of the Corneal Tissues 44 2. Development of the Corneal Epithelium 46 3. Development of the Corneal Endothelium 47 4. Development of the Corneal Stroma 48 5. Corneal Innervation 49 6. Corneal Avascularity During Development 51 7. Conclusions 53 Acknowledgments 53 References 53 vi Contents 5. Corneal Epithelial Wound Healing 61 Chia-Yang Liu and Winston Whei-Yang Kao 1. Three Stages of Corneal Epithelial Wound Healing 61 2. Events Following Corneal Epithelial Wound 63 3. Role of Basement Membrane to Epithelial Wound Healing 64 4. Role of Integrins During Corneal Wound Healing 64 5. Role of Growth Factors During Corneal Wound Healing 65 6. Role of Cytokine Networks During Corneal Wound Healing 66 7. The Mesenchymal-Epithelial Interactions During Wound Healing 67 8. Conclusions 68 References 69 6. Corneal Dystrophies: Overview and Summary 73 Daniel Schorderet 1. Introduction 73 References 77 7. Fuchs Corneal Dystrophy 79 Allen O. Eghrari, S. Amer Riazuddin, and John D. Gottsch 1. Introduction 80 2. Structural Changes in the FCD Cornea 80 3. Genetic Basis of FCD 83 4. Functional Mechanisms in FCD 89 References 93 8. Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2 99 Eung Kweon Kim, Hun Lee, and Seung-il Choi 1. Pathogenesis 99 2. Conclusion 112 Acknowledgments 112 References 112 Section II Lens 9. Overview of the Lens 119 J. Fielding Hejtmancik and Alan Shiels 1. Introduction 119 2. Structure and Cells of the Lens 120 Contents vii 3. Transparency 122 4. Aging 122 References 124 10. Lens Development and Crystallin Gene Expression 129 Ales Cvekl, Rebecca McGreal, arid Wei Liu 1. Introduction 130 2. Early Lens Development 131 3. Lens Differentiation 137 4. Conclusions and Future Directions 149 Acknowledgments 153 References 153 11. Lens Biology and Biochemistry 169 J. Fielding Hejtmancik, S. Amer Riazuddin, Rebecca McGreal, Wei Liu, Ales Cvekl, and Alan Shiels 1. Lens Biology: Overview 170 2. Crystallins and Lens Biology 171 3. Membrane Proteins 180 4. Gap junction Proteins 181 5. Cytoskeletal Proteins 183 6. Lens Metabolism 184 References 189 12. Molecular Genetics of Cataract 203 Alan Shiels and J. Fielding Hejtmancik 1. Introduction 203 2. Genes Underlying Isolated or Primary Inherited Cataract 205 3. Genes Associated with Age-Related Cataract 212 4. Summary and Outlook 214 Acknowledgments 215 References 215 Section III Refraction 13.RPE and Choroid Mechanisms Underlying Ocular Growth and Myopia 221 Yan Zhang and Christine F. Wildsoet 1. Introduction 222 viii Contents 2. The Role of the RPE in Eye Growth Regulation 225 3. The Role of Choroid in Eye Growth Regulation 232 References 235 14. Scleral Mechanisms Underlying Ocular Growth and Myopia 241 Ravi Metlapally and Christine F. Wildsoet 1. Introduction 241 2. Structural and Biomechanical Changes in Myopia 242 3. Molecular Changes in Myopia 243 4. Recent Advances in Molecular Studies 244 5. Potential Therapeutic Approaches 245 References 246 15. Molecular and Biochemical Aspects of the Retina on Refraction 249 Ranjay Chakraborty and Machelle T. Pardue 1. Retina 250 2. Retinal Input Essential for Ocular Growth 251 3. Mouse— A Novel Animal Model to Explore Retinal Mechanism of Refractive Development 252 4. Retinal Neurotransmitters and Refractive Development 253 5. Retinal Neurons/Pathways and Refractive Development in Mutant Mice 255 6. Conclusions 260 References 261 16. Genetics of Refraction and Myopia 269 Qingjiong Zhang 1. Genetic Contribution to Refraction 269 2. Molecular Genetics of Hyperopia 270 3. Molecular Genetics of Myopia 271 4. Human Variants in Genes for Experimental Myopia 274 5. Summary 275 References 275 Section IV Ocular Immunity 17. Molecular Genetic Advances in Uveitis 283 Shengping Hou, Aize Kijlstra, and Peizeng Yang 1. Introduction 284 Contents ix 2. Molecular Genetic Studies on the Genes Involved in the Innate Immune System and Their Relation to Uveitis 286 3. Molecular Genetics Studies on the Genes Involved in the Adaptive Immune System and Uveitis 289 4. The Role of CNVs in Uveitis 292 5. Summary 293 References 293 Section V Aqueous Flow and Intraocular Pressure 18. Intraocular Pressure and the Mechanisms Involved in Resistance of the Aqueous Humor Flow in the Trabecular Meshwork Outflow Pathways 301 Ernst R. Tamm, Barbara M. Braunger, and Rudolf Fuchshofer 1. Intraocular Pressure and Aqueous Humor Outflow 302 2. Trabecular Meshwork 303 3. Schlemm s Canal 304 4. Outflow Resistance 305 5. Contractile Mechanisms in the Trabecular Outflow Pathways 307 6. Resistance of the Trabecular Outflow Pathways in Primary Open-Angle Glaucoma 309 References 311 19. Glaucoma Genes and Mechanisms 315 Janey L. Wiggs 1. Introduction 316 2. Endoplasmic Reticulum Stress Response 318 3. Extracellular Matrix, Cell Junctions, and Cell Adhesion 322 4. TGF Beta Signaling 324 5. Tumor Necrosis Factor-Alpha Signaling 326 6. Regulation of Autophagy 326 7. Lipid Metabolism 327 8. Endothelial Nitric Oxide Synthetase Signaling and Caveolae 327 9. Fructose and Mannose Metabolism 328 10. Regulation of Cell Division 328 11. Regulation of Ocular Development 330 12. Cerebrospinal Fluid Pressure 332 13. Summary 333 References 333 X Contents 20. Neuroinflammation in Glaucoma and Optic Nerve Damage 343 Caitlin E. Mac Nair and Robert W. Nickells 1. Introduction 344 2. Immune Privilege and Neuroglia 345 3. Glaucomatous Neurodegeneration Is Compartmentalized 349 4. Immune Response in the Optic Nerve and ONH 350 5. Neuroinflammation in the Retina 354 6. Conclusions 357 References 357 21. What Animal Models Can Tell Us About Glaucoma 365 Felix L. Struebing and Eldon E. Geisert 1. Introduction 365 2. Animals in Glaucoma Research 366 3. Rodent Models 367 4. Models Induced by Genetic Manipulation 370 5. Mechanisms Underlying RGC Death in Glaucoma 371 6. Innate Immune Network in Glaucoma 372 Acknowledgments 375 References 376 Section VI Retina 22. Introduction to the Retina 383 Hans E. Grossniklaus, Eldon E. Geisert, and John M. Nickerson 1. Introduction 383 2. The Fundus 384 3. The Structure of the Retina in Cross-Section 386 4. The Blood Supply of the Retina 387 5. En Face Imaging and Patterns in the Retina 387 6. The Visual Transduction Cascade 390 7. Outer Segment Disk Genesis and Shedding 391 8. Retinal Circuitry 393 9. Nobel Prizes Based on Understanding the Retina 394 Acknowledgments 395 References 396 Contents xi 23. Development of the Vertebrate Eye and Retina 397 Deborah L. Stenkamp 1. Introduction 397 2. Overview of Eye Morphogenesis 400 3. Principles of Retinal Neurogenesis 400 4. Retinal Neuronal Diversity: Regulation by Intrinsic and Extrinsic Factors 402 5. Persistent Retinal Neurogenesis and Regeneration 406 6. Summary 408 Acknowledgments 408 References 408 24. Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease 415 Robert S. Molday 1. Introduction 416 2. ABC Transporters 417 3. ABCA Subfamily 417 4. ABCA4 419 5. Role of ABCA4 in the Visual Cycle 423 6. Loss of ABCA4 Function and Stargardt Disease 426 7. Conclusions 427 Acknowledgments 427 References 427 25. A History of the Classical Visual Cycle 433 Charles B. Wright, T. Michael Redmond, and John M, Nickerson 1. Introduction 434 2. History of Visual Cycle Research 434 3. RPE65: Structure, Function, and Biochemical Mechanism 437 4. RPE65 and Its Known Disease Associations 442 5. Conclusions 444 References 444 26. A2E and Lipofuscin 449 Rosalie K. Crouch, Yiannis Koutalos, Masahiro Kono, Kevin Schey, and Zsolt Ablonczy 1. Introduction 450 2. Lipofuscin 4^1 xii Contents 3. A2E and Other 6/s-Retinoids 452 4. Matrix-Assisted Laser Desorption-lonization Tissue-Imaging Mass Spectrometry 454 5. A2E and Lipofuscin in Mice 457 6. A2E and Lipofuscin in Humans 457 7. Future Directions 460 Acknowledgments 460 References 461 27. Cone Health and Retinoids 465 Masahiro Kono 1. Introduction 466 2. Cone Pigments and Opsins 467 3. Two Visual Cycles for Cones 468 4. Leber Congenital Amaurosis 469 5. Mouse Models for LCA 469 6. Role of Retinoids in Maintaining Healthy Cones 471 Acknowledgments 473 References 473 28. Retinoid Processing in Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium Cultures Mark A. Fields, Hannah E. Bowrey, Jie Gong, Zsolt Ablonczy, and Lucian V. Del Priore 1. Introduction 2. Stem Cell Definitions and Types 3. Induced Pluripotent Stem Cells 4. Retinal Pigment Epithelium, the Visual Cycle, and Age-Related Macular Degeneration 5. Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium 6. Retinoid Processing in Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium 7. Future Directions Acknowledgments References 29. Potential Role of Exercise in Retinal Health Machelle T. Pardue, Micah A. Chrenek, Robin H. Schmidt, John M. Nickerson, and Jeffrey H. Boatright 1. Exercise Is Neuroprotective in Humans and Animals 477 478 478 479 480 483 485 486 487 487 491 492 Contents xiii 2. Exercise May Be Beneficial to Retina and Vision 492 3. Exercise Protects Retina and Vision in Animal Models of Retinal Disease 493 4. Mechanisms That May Mediate Effects of Exercise on Retina and Vision 493 5. BDNF Mediates Effects of Exercise in Human and Animal Models 494 6. The Possible Role of BDNF in Exercise and Retinal Neuroprotection 495 7. From Muscle to Retina: Systemic and Local Pathways? 496 Acknowledgments 497 References 498 30. The Biology of Retinoblastoma 503 Pia R. Mendoza and Hans E. Grossniklaus 1. Introduction 503 2. Genetics and Molecular Biology of Retinoblastoma 504 3. Clinical Features of Retinoblastoma 509 4. Pathology of Retinoblastoma 510 5. Management of Retinoblastoma 512 References 514 31. The 11-c/s Retinal Origins of Lipofuscin in the Retina (online chapter) 517 Leopold Adler IV, Nicholas P. Boyer, Chunhe Chen, Zsolt Ablonczy, Rosalie K. Crouch, and Yiannis Koutalos Index 519
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spellingShingle Molecular biology of eye disease
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title Molecular biology of eye disease
title_auth Molecular biology of eye disease
title_exact_search Molecular biology of eye disease
title_full Molecular biology of eye disease ed. by John M. Nickerson ...
title_fullStr Molecular biology of eye disease ed. by John M. Nickerson ...
title_full_unstemmed Molecular biology of eye disease ed. by John M. Nickerson ...
title_short Molecular biology of eye disease
title_sort molecular biology of eye disease
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