Titlebook: Retinal Degenerative Diseases and Experimental Therapy; Joe G. Hollyfield,Robert E. Anderson,Matthew M. La Book 1999 Springer Science+Busi

LAPSE

Guanylyl Cyclase Genes and Their Role in Retinal Degenerationts. We demonstrate that this mutation markedly decreases enzyme activity when expressed .. Function and possible linkage to eye disease of an X-chromosomal gene encoding a second retinal isoform, ., are less clear. We determined the genomic structure of . as a prerequisite for future mutation screening studies.

erythema

Guanylyl Cyclase Gene is the Disease Locus in the , Chickenfants. With the identity of the . gene in hand, it seems appropriate to review the nearly two decades of research that has been conducted on this model, research that has provided a firm foundation for our current efforts to restore sight in these animals using somatic gene therapy.

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连累

Blindness in Usher Syndrome 1Br the trafficking of phototransductive membrane during various stages of its turnover. Our studies of molecular motors in photoreceptor cells and the RPE are aimed at understanding mechanisms involved in phototransductive membrane turnover and the cellular basis of some forms of retinal degeneration

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Foreknowledge

The ,-Deficient Mouse as a Model for ,-Associated Leber’s Congenital Amaurosis and Related Disorderstations in the human . gene have been associated with Leber’s congenital amaurosis, a disorder characterized by blindness at birth, and autosomal recessive childhood-onset severe retinal dystrophies. We have developed an .-deficient mouse and have described its phenotype. The .-deficient mouse pheno

凶兆

CRALBP and Inherited Retinal Degenerationntosa (arRP). We show here liquid chromatography electrospray mass spectrometric results from recombinant mutant CRALBP that were instrumental in establishing that the arRP modification was responsible for a loss of protein function. In addition, we present progress in the development of CRALBP knoc

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你不公正

Loss of Cone and Reduction in Rod ERG Responses in the Guanylyl Cyclase-E (GC-E) Deficient Mousehomolog of the rodent GC-E gene have been reported in patients with Leber congenital amaurosis (LCA) and in patients with cone-rod dystrophy (CORD6). We have recently produced a mouse genetic model lacking the GC-E gene, and have recorded electroretinograms (ERGs) from mice at different ages. Rod ER