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E-raamat: Molecular Biology of Eye Disease

Volume editor (Department of Ophthalmology, Emory University, Atlanta, USA), Volume editor (Ophthalmic Genetics and Visual Function Branch, Ophthalmic Molecular Genetics Section, Rockville, USA)
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This volume of Progress in Molecular Biology and Translational Science focuses on the molecular biology of eye disease.
  • Contributions from leading authorities
  • Informs and updates on all the latest developments in the field

Muu info

This volume of Progress in Molecular Biology and Translational Science focuses on the molecular biology of eye disease
Contributors xv
Preface xix
1 Overview of the Visual System
1(6)
J. Fielding Hejtmancik
John M. Nickerson
Section I Cornea
2 Overview of the Cornea: Structure, Function, and Development
7(18)
Allen O. Eghrari
S. Amer Riazuddin
John D. Gottsch
1 Structure
8(4)
2 Function
12(4)
3 Development
16(9)
Acknowledgments
20(1)
References
20(5)
3 Stem Cells in the Cornea
25(18)
Andrew J. Hertsenberg
James L. Funderburgh
1 Corneal Epithelial Stem Cells
26(5)
2 Corneal Stromal Stem Cells
31(3)
3 Corneal Endothelium Stem/Progenitor Cells
34(9)
References
36(7)
4 Corneal Development: Different Cells from a Common Progenitor
43(18)
Peter Y. Lwigale
1 Embryonic Origin of the Corneal Tissues
44(2)
2 Development of the Corneal Epithelium
46(1)
3 Development of the Corneal Endothelium
47(1)
4 Development of the Corneal Stroma
48(1)
5 Corneal Innervation
49(2)
6 Corneal Avascularity During Development
51(2)
7 Conclusions
53(8)
Acknowledgments
53(1)
References
53(8)
5 Corneal Epithelial Wound Healing
61(12)
Chia-Yang Liu
Winston Whei-Yang Kao
1 Three Stages of Corneal Epithelial Wound Healing
61(2)
2 Events Following Corneal Epithelial Wound
63(1)
3 Role of Basement Membrane to Epithelial Wound Healing
64(1)
4 Role of Integrins During Corneal Wound Healing
64(1)
5 Role of Growth Factors During Corneal Wound Healing
65(1)
6 Role of Cytokine Networks During Corneal Wound Healing
66(1)
7 The Mesenchymal--Epithelial Interactions During Wound Healing
67(1)
8 Conclusions
68(5)
References
69(4)
6 Corneal Dystrophies: Overview and Summary
73(6)
Daniel Schorderet
1 Introduction
73(6)
References
77(2)
7 Fuchs Corneal Dystrophy
79(20)
Allen O. Eghrari
S. Amer Riazuddin
John D. Gottsch
1 Introduction
80(1)
2 Structural Changes in the FCD Cornea
80(3)
3 Genetic Basis of FCD
83(6)
4 Functional Mechanisms in FCD
89(10)
References
93(6)
8 Molecular Pathogenesis of Corneal Dystrophies: Schnyder Dystrophy and Granular Corneal Dystrophy type 2
99(20)
Eung Kweon Kim
Hun Lee
Seung-Il Choi
1 Pathogenesis
99(13)
2 Conclusion
112(7)
Acknowledgments
112(1)
References
112(7)
Section II Lens
9 Overview of the Lens
119(10)
J. Fielding Hejtmancik
Alan Shiels
1 Introduction
119(1)
2 Structure and Cells of the Lens
120(2)
3 Transparency
122(1)
4 Aging
122(7)
References
124(5)
10 Lens Development and Crystallin Gene Expression
129(40)
Ales Cvekl
Rebecca McGreal
Wei Liu
1 Introduction
130(1)
2 Early Lens Development
131(6)
3 Lens Differentiation
137(12)
4 Conclusions and Future Directions
149(20)
Acknowledgments
153(1)
References
153(16)
11 Lens Biology and Biochemistry
169(34)
J. Fielding Hejtmancik
S. Amer Riazuddin
Rebecca McGreal
Wei Liu
Ales Cvekl
Alan Shiels
1 Lens Biology: Overview
170(1)
2 Crystallins and Lens Biology
171(9)
3 Membrane Proteins
180(1)
4 Gap Junction Proteins
181(2)
5 Cytoskeletal Proteins
183(1)
6 Lens Metabolism
184(19)
References
189(14)
12 Molecular Genetics of Cataract
203(18)
Alan Shiels
J. Fielding Hejtmancik
1 Introduction
203(2)
2 Genes Underlying Isolated or Primary Inherited Cataract
205(7)
3 Genes Associated with Age-Related Cataract
212(2)
4 Summary and Outlook
214(7)
Acknowledgments
215(1)
References
215(6)
Section III Refraction
13 RPE and Choroid Mechanisms Underlying Ocular Growth and Myopia
221(20)
Yan Zhang
Christine F. Wildsoet
1 Introduction
222(3)
2 The Role of the RPE in Eye Growth Regulation
225(7)
3 The Role of Choroid in Eye Growth Regulation
232(9)
References
235(6)
14 Scleral Mechanisms Underlying Ocular Growth and Myopia
241(8)
Ravi Metlapally
Christine F. Wildsoet
1 Introduction
241(1)
2 Structural and Biomechanical Changes in Myopia
242(1)
3 Molecular Changes in Myopia
243(1)
4 Recent Advances in Molecular Studies
244(1)
5 Potential Therapeutic Approaches
245(4)
References
246(3)
15 Molecular and Biochemical Aspects of the Retina on Refraction
249(20)
Ranjay Chakraborty
Machelle T. Pardue
1 Retina
250(1)
2 Retinal Input Essential for Ocular Growth
251(1)
3 Mouse--- A Novel Animal Model to Explore Retinal Mechanism of Refractive Development
252(1)
4 Retinal Neurotransmitters and Refractive Development
253(2)
5 Retinal Neurons/Pathways and Refractive Development in Mutant Mice
255(5)
6 Conclusions
260(9)
References
261(8)
16 Genetics of Refraction and Myopia
269(14)
Qingjiong Zhang
1 Genetic Contribution to Refraction
269(1)
2 Molecular Genetics of Hyperopia
270(1)
3 Molecular Genetics of Myopia
271(3)
4 Human Variants in Genes for Experimental Myopia
274(1)
5 Summary
275(8)
References
275(8)
Section IV Ocular Immunity
17 Molecular Genetic Advances in Uveitis
283(18)
Shengping Hou
Aize Kijlstra
Peizeng Yang
1 Introduction
284(2)
2 Molecular Genetic Studies on the Genes Involved in the Innate Immune System and Their Relation to Uveitis
286(3)
3 Molecular Genetics Studies on the Genes Involved in the Adaptive Immune System and Uveitis
289(3)
4 The Role of CNVs in Uveitis
292(1)
5 Summary
293(8)
References
293(8)
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(14)
Ernst R. Tamm
Barbara M. Braunger
Rudolf Fuchshofer
1 Intraocular Pressure and Aqueous Humor Outflow
302(1)
2 Trabecular Meshwork
303(1)
3 Schlemm's Canal
304(1)
4 Outflow Resistance
305(2)
5 Contractile Mechanisms in the Trabecular Outflow Pathways
307(2)
6 Resistance of the Trabecular Outflow Pathways in Primary Open-Angle Glaucoma
309(6)
References
311(4)
19 Glaucoma Genes and Mechanisms
315(28)
Janey L. Wiggs
1 Introduction
316(2)
2 Endoplasmic Reticulum Stress Response
318(4)
3 Extracellular Matrix, Cell Junctions, and Cell Adhesion
322(2)
4 TGF Beta Signaling
324(2)
5 Tumor Necrosis Factor-Alpha Signaling
326(1)
6 Regulation of Autophagy
326(1)
7 Lipid Metabolism
327(1)
8 Endothelial Nitric Oxide Synthetase Signaling and Caveolae
327(1)
9 Fructose and Mannose Metabolism
328(1)
10 Regulation of Cell Division
328(2)
11 Regulation of Ocular Development
330(2)
12 Cerebrospinal Fluid Pressure
332(1)
13 Summary
333(10)
References
333(10)
20 Neuroinflammation in Glaucoma and Optic Nerve Damage
343(22)
Caitlin E. Mac Nair
Robert W. Nickells
1 Introduction
344(1)
2 Immune Privilege and Neuroglia
345(4)
3 Glaucomatous Neurodegeneration Is Compartmentalized
349(1)
4 Immune Response in the Optic Nerve and ONH
350(4)
5 Neuroinflammation in the Retina
354(3)
6 Conclusions
357(8)
References
357(8)
21 What Animal Models Can Tell Us About Glaucoma
365(18)
Felix L. Struebing
Eldon E. Geisert
1 Introduction
365(1)
2 Animals in Glaucoma Research
366(1)
3 Rodent Models
367(3)
4 Models Induced by Genetic Manipulation
370(1)
5 Mechanisms Underlying RGC Death in Glaucoma
371(1)
6 Innate Immune Network in Glaucoma
372(11)
Acknowledgments
375(1)
References
376(7)
Section VI Retina
22 Introduction to the Retina
383(14)
Hans E. Grossniklaus
Eldon E. Geisert
John M. Nickerson
1 Introduction
383(1)
2 The Fundus
384(2)
3 The Structure of the Retina in Cross-Section
386(1)
4 The Blood Supply of the Retina
387(1)
5 En Face Imaging and Patterns in the Retina
387(3)
6 The Visual Transduction Cascade
390(1)
7 Outer Segment Disk Genesis and Shedding
391(2)
8 Retinal Circuitry
393(1)
9 Nobel Prizes Based on Understanding the Retina
394(3)
Acknowledgments
395(1)
References
396(1)
23 Development of the Vertebrate Eye and Retina
397(18)
Deborah L. Stenkamp
1 Introduction
397(3)
2 Overview of Eye Morphogenesis
400(1)
3 Principles of Retinal Neurogenesis
400(2)
4 Retinal Neuronal Diversity: Regulation by Intrinsic and Extrinsic Factors
402(4)
5 Persistent Retinal Neurogenesis and Regeneration
406(2)
6 Summary
408(7)
Acknowledgments
408(1)
References
408(7)
24 Insights into the Molecular Properties of ABCA4 and Its Role in the Visual Cycle and Stargardt Disease
415(18)
Robert S. Molday
1 Introduction
416(1)
2 ABC Transporters
417(1)
3 ABCA Subfamily
417(2)
4 ABCA4
419(4)
5 Role of ABCA4 in the Visual Cycle
423(3)
6 Loss of ABCA4 Function and Stargardt Disease
426(1)
7 Conclusions
427(6)
Acknowledgments
427(1)
References
427(6)
25 A History of the Classical Visual Cycle
433(16)
Charles B. Wright
T. Michael Redmond
John M. Nickerson
1 Introduction
434(1)
2 History of Visual Cycle Research
434(3)
3 RPE65: Structure, Function, and Biochemical Mechanism
437(5)
4 RPE65 and Its Known Disease Associations
442(2)
5 Conclusions
444(5)
References
444(5)
26 A2E and Lipofuscin
449(16)
Rosalie K. Crouch
Yiannis Koutalos
Masahiro Kono
Kevin Schey
Zsolt Ablonczy
1 Introduction
450(1)
2 Lipofuscin
451(1)
3 A2E and Other Bis-Retinoids
452(2)
4 Matrix-Assisted Laser Desorption--Ionization Tissue-Imaging Mass Spectrometry
454(3)
5 A2E and Lipofuscin in Mice
457(1)
6 A2E and Lipofuscin in Humans
457(3)
7 Future Directions
460(5)
Acknowledgments
460(1)
References
461(4)
27 Cone Health and Retinoids
465(12)
Masahiro Kono
1 Introduction
466(1)
2 Cone Pigments and Opsins
467(1)
3 Two Visual Cycles for Cones
468(1)
4 Leber Congenital Amaurosis
469(1)
5 Mouse Models for LCA
469(2)
6 Role of Retinoids in Maintaining Healthy Cones
471(6)
Acknowledgments
473(1)
References
473(4)
28 Retinoid Processing in Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium Cultures
477(14)
Mark A. Fields
Hannah E. Bowrey
Jie Gong
Zsolt Ablonczy
Lucian V. Del Priore
1 Introduction
478(1)
2 Stem Cell Definitions and Types
478(1)
3 Induced Pluripotent Stem Cells
479(1)
4 Retinal Pigment Epithelium, the Visual Cycle, and Age-Related Macular Degeneration
480(3)
5 Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium
483(2)
6 Retinoid Processing in Induced Pluripotent Stem Cell-Derived Retinal Pigment Epithelium
485(1)
7 Future Directions
486(5)
Acknowledgments
487(1)
References
487(4)
29 Potential Role of Exercise in Retinal Health
491(12)
Machelle T. Pardue
Micah A. Chrenek
Robin H. Schmidt
John M. Nickerson
Jeffrey H. Boatright
1 Exercise Is Neuroprotective in Humans and Animals
492(1)
2 Exercise May Be Beneficial to Retina and Vision
492(1)
3 Exercise Protects Retina and Vision in Animal Models of Retinal Disease
493(1)
4 Mechanisms That May Mediate Effects of Exercise on Retina and Vision
493(1)
5 BDNF Mediates Effects of Exercise in Human and Animal Models
494(1)
6 The Possible Role of BDNF in Exercise and Retinal Neuroprotection
495(1)
7 From Muscle to Retina: Systemic and Local Pathways?
496(7)
Acknowledgments
497(1)
References
498(5)
30 The Biology of Retinoblastoma
503(14)
Pia R. Mendoza
Hans E. Grossniklaus
1 Introduction
503(1)
2 Genetics and Molecular Biology of Retinoblastoma
504(5)
3 Clinical Features of Retinoblastoma
509(1)
4 Pathology of Retinoblastoma
510(2)
5 Management of Retinoblastoma
512(5)
References
514(3)
31 The 11-cis Retinal Origins of Lipofuscin in the Retina (online chapter)
517(2)
Leopold Adler
Nicholas P. Boyer
Chunhe Chen
Zsolt Ablonczy
Rosalie K. Crouch
Yiannis Koutalos
Index 519