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Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration. TOC:From the contents Genetic Factors Modifying Clinical Expression of Autosomal Dominant Rp.- Disease-Associated Variants of The Rod-Derived Cone Viability Factor (Rdcvf) In Leber Congenital Amaurosis.…mehr

Produktbeschreibung
Retinal Degenerations is the result of the International Symposium on Retinal degeneration which has become perhaps the most important research meeting in the field. THe topics in this volume explore the etiology, cellular mechanisms, epidemiology, genetics, models and potential therapeutic measures for the blinding diseases of retinitis pigmentosa and age-related macular degeneration. TOC:From the contents Genetic Factors Modifying Clinical Expression of Autosomal Dominant Rp.- Disease-Associated Variants of The Rod-Derived Cone Viability Factor (Rdcvf) In Leber Congenital Amaurosis. Rod-Derived Cone Viability Variants in Lca.- Leber Congenital Amaurosis: Survey of The Genetic Heterogeneity, Refinement of The Clinical Definition and Phenotype-Genotype Correlations as A Strategy For Molecular Diagnosis. Clinical and Molecular Survey in Lca.- A First Locus For Isolated Autosomal Recessive Optic Atrophy (Roa1) Maps To Chromosome 8q21-Q22.- Rcc1-Like Domain and ORF15: Essentials in Rpgr Gene.- Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the Rds/Peripherin Gene.- Biochemical Characterisation of the C1QTNF5 Gene Associated With Late-Onset Retinal Degeneration. A Genetic Model of Age-Related Macular Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with Cyp4v2 Gene Mutations.- Fundus Appearance Of Choroideremia Using Optical Coherence Tomograpy.- A2e, A Fluorophore Of Rpe Lipofuscin, Can Destabilie Membrane.- Amino-Retinoid Compounds in The Human Retinal Pigment Epithelium.- Annexins In Bruch¿s Membrane and Drusen.- Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by Impdh1 Mutations.

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  • Produktdetails
  • Verlag: Springer-Verlag GmbH
  • Erscheinungstermin: 06.08.2007
  • Englisch
  • ISBN-13: 9780387324425
  • Artikelnr.: 37286875
Autorenporträt
Joe G. Hollyfield, Cleveland Clinic Foundation, Cleveland, OH, USA / Richard E. Anderson, University of Oklahoma, OK, USA / Matthew M. LaVail, University of California, San Francisco, CA, USA
Inhaltsangabe
Molecular Genetics and Candidate Genes.- Genetic Factors Modifying Clinical Expression of Autosomal Dominant RP.- Disease-Associated Variants of the Rod-derived Cone Viability Factor (RdCVF) in Leber Congenital Amaurosis.- Leber Congenital Amaurosis: Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition and Phenotype-Genotype Correlations as a Strategy for Molecular Diagnosis.- A First Locus for Isolated Autosomal Recessive Optic Atrophy (ROA1) Maps to Chromosome 8q21-q22.- RCC1-Like Domain and ORF15: Essentials in RPGR Gene.- Choroidal Neovascularization in Patients with Adult-Onset Foveomacular Dystrophy Caused by Mutations in the RDS/Peripherin Gene.- Biochemical Characterisation of the C1QTNF5 Gene Associated with Late-Onset Retinal Degeneration.- Bietti Crystalline Corneoretinal Dystrophy Associated with CYP4V2 Gene Mutations.- Diagnostic, Clinical, Cytopathological and Physiologic Aspects of Retinal Degeneration.- Fundus Appearance of Choroideremia Using Optical Coherence Tomograpy.- A2E, A Fluorophore of RPE Lipofuscin, Can Destabilize Membrane.- Amino-Retinoid Compounds in the Human Retinal Pigment Epithelium.- Annexins in Bruch's Memberane and Drusen.- Animal Models of Retinal Degeneration.- Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by IMPDH1 Mutations.- Biochemical Function of the LCA Linked Protien, Aryl Hydrocarbon Receptor Interacting Protein Like-1 (AIPL1).- Characterization of Mouse Mutants with Abnormal RPE Cells.- Rod and Cone Pigment Regeneration in RPE65 -/- Mice.- Initial Observations of Key Features of Age-Related Macular Degeneration in APOE Targeted Replacement Mice.- Altered Rhythm of Photoreceptor Outer Segment Phagocytosis in ?5 Integrin Knockout Mice.- Light/Dark Translocation of Alphatransducin in Mouse Photoreceptor Cells Expressing G90D Mutant Opsin.- Slowed Photoresponse Recovery and Age-Related Degeneration in Cones Lacking Gprotein-Coupled Receptor Kinase 1.- Transgenic Animal Studies of Human Retinal Disease Caused by Mutations in Peripherin/RDS.- Transgenic Expression of Leukemia Inhibitory Factor Inhibits Both Rod and Cone Gene Expression.- A Role for bHLH Transcription Factors in Retinal Degeneration and Dysfunction.- Characterisation of a Model for Retinal Neovascularisation.- A Two-Alternative, Forced Choice Method for Assessing Mouse Vision.- Conditional Gene Knockout System in Cone Photoreceptors.- Regulation of Tight Junction Proteins in Cultured Retinal Pigment Epithelial Cells and in VEGF Overexpressing Transgenic Mouse Retinas.- Pathological Heterogeneity of Vasoproliferative Retinopathy in Transgenic Mice Overexpressing Vascular Endothelial Growth Factor in Photoreceptors.- Laser Photocoagulation: Ocular Research and Therapy in Diabetic Retinopathy.- Applying Transgenic Zebrafish Technology to Study the Retina.- Bmi1 Loss Delays Photoreceptor Degeneration in Rd1 Mice.- Transcriptional and Post-Transcriptional Regulation of the Rod cGMP-Phosphodiesterase ?-Subunit Gene.- Gene Therapy and Neuroprotection.- Down-Regulation of Rhodopsin Gene Expression by AAV-Vectored Short Interfering RNA.- Assessing the Efficacy of Gene Therapy in Rpe65 -/- Mice Using Photoentrainment of Circadian Phythm.- Lentiviral Vectors Containing a Retinal Pigment Epithelium Specific Promoter for Leber Congenital Amaurosis Gene Therapy.- Gene Delivery to the Retina Using Lentiviral Vectors.- Potential Use of Cellular Promoter(s) to Target RPE in AAV-Mediated Delivery.- Cytokine-Induced Retinal Degeneration: Role of Suppressors of Cytokine Signaling (SOCS) Proteins in Protection of the Neuroretina.- Disease Mechanisms and Gene Therapy in A Mouse Model for X-Linked Retinoschisis.- Molecular Mechanisms of Neuroprotection in the Eye.- Retinal Damage Caused by Photodynamic Therapy Can Be Reduced Using BDNF.- Controlling Vascular Endothelial Growth Factor: Therapies for Ocular Diseases Associated with Nevascularization.- Intravitreal Injection of Triamcinolone Acetonide