: J. G. Hollyfield, R. E. Anderson, Matthew M. LaVail
: Joe G. Hollyfield, Robert E. Anderson, Matthew M LaVail
: Retinal Degenerative Diseases
: Springer-Verlag
: 9780387324425
: 1
: CHF 190.00
:
: Nichtklinische Fächer
: English
: 557
: Wasserzeichen
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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.

PREFACE7
ABOUT THE EDITORS9
CONTENTS12
MOLECULAR GENETICS AND CANDIDATE GENES22
GENETIC FACTORS MODIFYING CLINICAL EXPRESSION OF AUTOSOMAL DOMINANT RP23
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- q2241
RCC1-LIKE DOMAIN AND ORF15: ESSENTIALS IN RPGR GENE48
CHOROIDAL NEOVASCULARIZATION IN PATIENTS WITH ADULT- ONSET FOVEOMACULAR DYSTROPHY CAUSED BY MUTATIONS IN THE RDS/ PERIPHERIN GENE53
BIOCHEMICAL CHARACTERISATION OF THE C1QTNF5 GENE ASSOCIATED WITH LATE- ONSET RETINAL DEGENERATION 59
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY ASSOCIATED WITH CYP4V2 GENE MUTATIONS67
DIAGNOSTIC, CLINICAL, CYTOPATHOLOGICAL AND PHYSIOLOGIC ASPECTS OF RETINAL DEGENERATION72
FUNDUS APPEARANCE OF CHOROIDEREMIA USING OPTICAL COHERENCE TOMOGRAPY73
A2E, A FLUOROPHORE OF RPE LIPOFUSCIN, CAN DESTABILIZE MEMBRANE78
AMINO-RETINOID COMPOUNDS IN THE HUMAN RETINAL PIGMENT EPITHELIUM84
ANNEXINS IN BRUCH S MEMBRANE AND DRUSEN90
ANIMAL MODELS OF RETINAL DEGENERATION94
MOLECULAR MECHANISMS OF PHOTORECEPTOR DEGENERATION IN RP CAUSED BY IMPDH1 MUTATIONS95
BIOCHEMICAL FUNCTION OF THE LCA LINKED PROTIEN, ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN LIKE 1 ( AIPL1) 102
CHARACTERIZATION OF MOUSE MUTANTS WITH ABNORMAL RPE CELLS108
ROD AND CONE PIGMENT REGENERATION IN RPE65-/- MICE114
INITIAL OBSERVATIONS OF KEY FEATURES OF AGE- RELATED MACULAR DEGENERATION IN APOE TARGETED REPLACEMENT MICE121
ALTERED RHYTHM OF PHOTORECEPTOR OUTER SEGMENT PHAGOCYTOSIS IN b5 INTEGRIN KNOCKOUT MICE130
LIGHT/DARK TRANSLOCATION OF ALPHATRANSDUCIN IN MOUSE PHOTORECEPTOR CELLS EXPRESSING G90D MUTANT OPSIN135
SLOWED PHOTORESPONSE RECOVERY AND AGE- RELATED DEGENERATION IN CONES LACKING G PROTEIN- COUPLED RECEPTOR KINASE 1142