Molecular biology of eye disease
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Sprache: | English |
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Acad. Press
2015
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Ausgabe: | 1. ed. |
Schriftenreihe: | Progress in molecular biology and translational science
134 |
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245 | 1 | 0 | |a Molecular biology of eye disease |c ed. by John M. Nickerson ... |
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Datensatz im Suchindex
_version_ | 1804175030582509568 |
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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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spelling | Molecular biology of eye disease ed. by John M. Nickerson ... 1. ed. Amsterdam Acad. Press 2015 XX, 528 S. Ill., graph. Darst. txt rdacontent n rdamedia nc rdacarrier Progress in molecular biology and translational science 134 Nickerson, John M. Sonstige oth Progress in molecular biology and translational science 134 (DE-604)BV035256576 134 HBZ Datenaustausch application/pdf http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028227384&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA Inhaltsverzeichnis |
spellingShingle | Molecular biology of eye disease Progress in molecular biology and translational science |
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 |
url | http://bvbr.bib-bvb.de:8991/F?func=service&doc_library=BVB01&local_base=BVB01&doc_number=028227384&sequence=000002&line_number=0001&func_code=DB_RECORDS&service_type=MEDIA |
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