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Retinal Degenerative Diseases
Joe G. Hollyfield, Robert E. Anderson, Matthew M LaVail
Verlag Springer-Verlag, 2007
ISBN 9780387324425 , 557 Seiten
Format PDF
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PREFACE
7
ABOUT THE EDITORS
9
CONTENTS
12
MOLECULAR GENETICS AND CANDIDATE GENES
22
GENETIC FACTORS MODIFYING CLINICAL EXPRESSION OF AUTOSOMAL DOMINANT RP
23
DISEASE-ASSOCIATED VARIANTS OF THE ROD-DERIVED CONE VIABILITY FACTOR ( RdCVF) IN LEBER CONGENITAL AMAUROSIS
29
LEBER CONGENITAL AMAUROSIS: SURVEY OF THE GENETIC HETEROGENEITY, REFINEMENT OF THE CLINICAL DEFINITION AND PHENOTYPE- GENOTYPE CORRELATIONS AS A STRATEGY FOR MOLECULAR DIAGNOSIS
35
A FIRST LOCUS FOR ISOLATED AUTOSOMAL RECESSIVE OPTIC ATROPHY ( ROA1) MAPS TO CHROMOSOME 8q21- q22
41
RCC1-LIKE DOMAIN AND ORF15: ESSENTIALS IN RPGR GENE
48
CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH ADULT- ONSET FOVEOMACULAR DYSTROPHY CAUSED BY MUTATIONS IN THE RDS/ PERIPHERIN GENE
53
BIOCHEMICAL CHARACTERISATION OF THE C1QTNF5 GENE ASSOCIATED WITH LATE- ONSET RETINAL DEGENERATION
59
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ASSOCIATED WITH CYP4V2 GENE MUTATIONS
67
DIAGNOSTIC, CLINICAL, CYTOPATHOLOGICAL AND PHYSIOLOGIC ASPECTS OF RETINAL DEGENERATION
72
FUNDUS APPEARANCE OF CHOROIDEREMIA USING OPTICAL COHERENCE TOMOGRAPY
73
A2E, A FLUOROPHORE OF RPE LIPOFUSCIN, CAN DESTABILIZE MEMBRANE
78
AMINO-RETINOID COMPOUNDS IN THE HUMAN RETINAL PIGMENT EPITHELIUM
84
ANNEXINS IN BRUCH’S MEMBRANE AND DRUSEN
90
ANIMAL MODELS OF RETINAL DEGENERATION
94
MOLECULAR MECHANISMS OF PHOTORECEPTOR DEGENERATION IN RP CAUSED BY IMPDH1 MUTATIONS
95
BIOCHEMICAL FUNCTION OF THE LCA LINKED PROTIEN, ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE– 1 ( AIPL1)
102
CHARACTERIZATION OF MOUSE MUTANTS WITH ABNORMAL RPE CELLS
108
ROD AND CONE PIGMENT REGENERATION IN RPE65-/- MICE
114
INITIAL OBSERVATIONS OF KEY FEATURES OF AGE- RELATED MACULAR DEGENERATION IN APOE TARGETED REPLACEMENT MICE
121
ALTERED RHYTHM OF PHOTORECEPTOR OUTER SEGMENT PHAGOCYTOSIS IN b5 INTEGRIN KNOCKOUT MICE
130
LIGHT/DARK TRANSLOCATION OF ALPHATRANSDUCIN IN MOUSE PHOTORECEPTOR CELLS EXPRESSING G90D MUTANT OPSIN
135
SLOWED PHOTORESPONSE RECOVERY AND AGE- RELATED DEGENERATION IN CONES LACKING G PROTEIN- COUPLED RECEPTOR KINASE 1
142
TRANSGENIC ANIMAL STUDIES OF HUMAN RETINAL DISEASE CAUSED BY MUTATIONS IN PERIPHERIN/ RDS
149
TRANSGENIC EXPRESSION OF LEUKEMIA INHIBITORY FACTOR INHIBITS BOTH ROD AND CONE GENE EXPRESSION
155
A ROLE FOR BHLH TRANSCRIPTION FACTORS IN RETINAL DEGENERATION AND DYSFUNCTION
162
CHARACTERISATION OF A MODEL FOR RETINAL NEOVASCULARISATION
169
A TWO-ALTERNATIVE, FORCED CHOICE METHOD FOR ASSESSING MOUSE VISION
175
CONDITIONAL GENE KNOCKOUT SYSTEM IN CONE PHOTORECEPTORS
179
REGULATION OF TIGHT JUNCTION PROTEINS IN CULTURED RETINAL PIGMENT EPITHELIAL CELLS AND IN VEGF OVEREXPRESSING TRANSGENIC MOUSE RETINAS
185
PATHOLOGICAL HETEROGENEITY OF VASOPROLIFERATIVE RETINOPATHY IN TRANSGENIC MICE OVEREXPRESSING VASCULAR ENDOTHELIAL GROWTH FACTOR IN PHOTORECEPTORS
192
LASER PHOTOCOAGULATION: OCULAR RESEARCH AND THERAPY IN DIABETIC RETINOPATHY
199
APPLYING TRANSGENIC ZEBRAFISH TECHNOLOGY TO STUDY THE RETINA
205
BMI1 LOSS DELAYS PHOTORECEPTOR DEGENERATION IN RD1 MICE
212
TRANSCRIPTIONAL AND POST-TRANSCRIPTIONAL REGULATION OF THE ROD cGMP-PHOSPHODIESTERASE b-SUBUNIT GENE
219
GENE THERAPY AND NEUROPROTECTION
232
DOWN-REGULATION OF RHODOPSIN GENE EXPRESSION BY AAV- VECTORED SHORT INTERFERING RNA
233
ASSESSING THE EFFICACY OF GENE THERAPY IN Rpe65-/- MICE USING PHOTOENTRAINMENT OF CIRCADIAN RHYTHM
239
LENTIVIRAL VECTORS CONTAINING A RETINAL PIGMENT EPITHELIUM SPECIFIC PROMOTER FOR LEBER CONGENITAL AMAUROSIS GENE THERAPY
246
GENE DELIVERY TO THE RETINA USING LENTIVIRAL VECTORS
253
POTENTIAL USE OF CELLULAR PROMOTER(S) TO TARGET RPE IN AAV- MEDIATED DELIVERY
265
CYTOKINE-INDUCED RETINAL DEGENERATION: ROLE OF SUPPRESSORS OF CYTOKINE SIGNALING ( SOCS) PROTEINS IN PROTECTION OF THE NEURORETINA
272
DISEASE MECHANISMS AND GENE THERAPY IN A MOUSE MODEL FOR X- LINKED RETINOSCHISIS
279
MOLECULAR MECHANISMS OF NEUROPROTECTION IN THE EYE
286
RETINAL DAMAGE CAUSED BY PHOTODYNAMIC THERAPY CAN BE REDUCED USING BDNF
291
CONTROLLING VASCULAR ENDOTHELIAL GROWTH FACTOR: THERAPIES FOR OCULAR DISEASES ASSOCIATED WITH NEOVASCULARIZATION
297
INTRAVITREAL INJECTION OF TRIAMCINOLONE ACETONIDE FOR MACULAR EDEMA DUE TO RETINITIS PIGMENTOSA AND OTHER RETINAL DISEASES
302
CONE SURVIVAL: IDENTIFICATION OF RdCVF
308
NEUROPROTECTION OF PHOTORECEPTORS IN THE RCS RAT AFTER IMPLANTATION OF A SUBRETINAL IMPLANT IN THE SUPERIOR OR INFERIOR RETINA
313
GLUTAMATE TRANSPORT MODULATION: A POSSIBLE ROLE IN RETINAL NEUROPROTECTION
319
ACTIVATION OF CELL SURVIVAL SIGNALS IN THE GOLDFISH RETINAL GANGLION CELLS AFTER OPTIC NERVE INJURY
325
USHER SYNDROME
330
ROLES AND INTERACTIONS OF USHER 1 PROTEINS IN THE OUTER RETINA
331
MOLECULAR ANALYSIS OF THE SUPRAMOLECULAR USHER PROTEIN COMPLEX IN THE RETINA
339
STEM CELLS, TRANSPLANTATION AND RETINAL REPAIR
344
LIMITED NEURAL DIFFERENTIATION OF RETINAL PIGMENT EPITHELIUM
345
RETINAL PIGMENT EPITHELIAL CELLS FROM THERMALLY RESPONSIVE POLYMER- GRAFTED SURFACE REDUCE APOPTOSIS
350
RETINAL TRANSPLANTATION
354
MICROARRAY ANALYSIS REVEALS RETINAL STEM CELL CHARACTERISTICS OF THE ADULT HUMAN EYE
364
USING STEM CELLS TO REPAIR THE DEGENERATE RETINA
368
OPTIC NERVE REGENERATION: MOLECULAR PRE- REQUISITES AND THE ROLE OF TRAINING
376
RETINAL GANGLION CELL REMODELLING IN EXPERIMENTAL GLAUCOMA
383
INDUCED RETINAL DEGENERATIONS
389
NEURAL PLASTICITY REVEALED BY LIGHT- INDUCED PHOTORECEPTOR LESIONS
390
FACTORS UNDERLYING CIRCADIAN DEPENDENT SUSCEPTIBILITY TO LIGHT INDUCED RETINAL DAMAGE
396
SPACE FLIGHT ENVIRONMENT INDUCES DEGENERATION IN THE RETINA OF RAT NEONATES
402
TOXICITY OF HYPEROXIA TO THE RETINA: EVIDENCE FROM THE MOUSE
410
TREATMENT WITH CARBONIC ANHYDRASE INHIBITORS DEPRESSES ELECTRORETINOGRAM RESPONSIVENESS IN MICE
423
INJURY-INDUCED RETINAL GANGLION CELL LOSS IN THE NEONATAL RAT RETINA
431
BASIC SCIENCE UNDERLYING RETINAL DEGENERATION
436
ARRESTIN TRANSLOCATION IN ROD PHOTORECEPTORS
437
BINDING OF N-RETINYLIDENE-PE TO ABCA4 AND A MODEL FOR ITS TRANSPORT ACROSS MEMBRANES
447
THE CHAPERONE FUNCTION OF THE LCA PROTEIN AIPL1
453
CRALBP LIGAND AND PROTEIN INTERACTIONS
459
FUNCTIONAL STUDY OF PHOTORECEPTOR PDEd
466
LOCALIZATION OF THE INSULIN RECEPTOR AND PHOSPHOINOSITIDE 3- KINASE IN DETERGENT- RESISTANT MEMBRANE RAFTS OF ROD PHOTORECEPTOR OUTER SEGMENTS
472
MERTK ACTIVATION DURING RPE PHAGOCYTOSIS IN VIVO REQUIRES aVb5 INTEGRIN
479
PHOTORECEPTOR RETINOL DEHYDROGENASES
484
PIGMENT EPITHELIUM-DERIVED GROWTH FACTOR INHIBITS FETAL BOVINE SERUM STIMULATED VASCULAR ENDOTHELIAL GROWTH FACTOR SYNTHESIS IN CULTURED HUMAN RETINAL PIGMENT EPITHELIAL CELLS
491
THE RETINAL PIGMENT EPITHELIUM APICAL MICROVILLI AND RETINAL FUNCTION
497
UPREGULATION OF TRANSGLUTAMINASE IN THE GOLDFISH RETINA DURING OPTIC NERVE REGENERATION
503
SURVIVAL SIGNALING IN RETINAL PIGMENT EPITHELIAL CELLS IN RESPONSE TO OXIDATIVE STRESS: SIGNIFICANCE IN RETINAL DEGENERATIONS
509
INDEX
519
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