RPGRIP1 and Cone-Rod Dystrophy in Dogs

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Departmental Papers (Vet)
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RPGRIP1
polymorphism
cone-rod dystrophy
protein network
photoreceptor cilia
Eye Diseases
Geriatrics
Medical Biotechnology
Medical Genetics
Medical Immunology
Ophthalmology
Veterinary Medicine
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Cone–rod dystrophies (crd) represent a group of progressive inherited blinding diseases characterized by primary dysfunction and loss of cone photoreceptors accompanying or preceding rod death. Recessive crd type 1 was described in dogs associated with an RPGRIP1 exon 2 mutation, but with lack of complete concordance between genotype and phenotype. This review highlights role of the RPGRIP1, a component of complex protein networks, and its function in the primary cilium, and discusses the potential mechanisms of genotype–phenotype discordance observed in dogs with the RPGRIP1 mutation.

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2012-01-01
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Retinal Degenerative Diseases: Advances in Experimental Medicine and Biology
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