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Article
Open AccessShort prolactin isoforms are expressed in photoreceptors of canine retinas undergoing retinal degeneration
Prolactin (PRL) hormone functions as a pleiotropic cytokine with a protective role in the retina. We recently identified by transcriptome profiling that PRL is one of the most highly upregulated mRNAs in the reti...
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Article
Open AccessCCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs
Aberrant photoreceptor function or morphogenesis leads to blinding retinal degenerative diseases, the majority of which have a genetic aetiology. A variant in PRCD previously identified in Portuguese Water Dogs (...
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Article
Open AccessRod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations
A common inherited retinal disease is caused by mutations in RHO expressed in rod photoreceptors that provide vision in dim ambient light. Approximately half of all RHO mutations result in a Class B phenotype whe...
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Article
Open AccessGenome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness
Congenital stationary night blindness (CSNB), in the complete form, is caused by dysfunctions in ON-bipolar cells (ON-BCs) which are secondary neurons of the retina. We describe the first disease causative var...
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Article
Open AccessAuthor Correction: Involvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper.
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Article
Open AccessAuthor Correction: Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
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Article
Open AccessNdr kinases regulate retinal interneuron proliferation and homeostasis
Ndr2/Stk38l encodes a protein kinase associated with the Hippo tumor suppressor pathway and is mutated in a naturally-occurring canine early retinal degeneration (erd). To elucidate the retinal functions of Ndr2 ...
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Chapter and Conference Paper
Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies
Canine bestrophinopathy (cBest) is an important translational model for BEST1-associated maculopathies in man that recapitulates the broad spectrum of clinical and molecular disease aspects observed in patients. ...
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Chapter and Conference Paper
Photoreceptor Outer Segment Isolation from a Single Canine Retina for RPE Phagocytosis Assay
Protocols for photoreceptor outer segment (POS) isolation that can be used in phagocytosis assays of retinal pigment epithelium (RPE) cells have routinely used a large number of cow or pig eyes. However, when ...
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Article
Open AccessInvolvement of Innate Immune System in Late Stages of Inherited Photoreceptor Degeneration
Retinitis pigmentosa (RP) is a group of inherited retinal degenerations that lead to progressive vision loss. Many mutations in 60 different genes have been shown to cause RP. Given the diversity of genes and ...
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Article
Open AccessVariabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology
Defects in the cilia gene RPGRIP1 cause Leber congenital amaurosis and cone-rod dystrophy in humans. A form of canine cone-rod dystrophy (cord1) was originally associated with a homozygous insertion in RPGRIP1 (R...
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Article
Open AccessPhotoreceptor proliferation and dysregulation of cell cycle genes in early onset inherited retinal degenerations
Mitotic terminally differentiated photoreceptors (PRs) are observed in early retinal degeneration (erd), an inherited canine retinal disease driven by mutations in the NDR kinase STK38L (NDR2).
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Article
Open AccessAltered miRNA expression in canine retinas during normal development and in models of retinal degeneration
Although more than 246 loci/genes are associated with inherited retinal diseases, the mechanistic events that link genetic mutations to photoreceptor cell death are poorly understood. miRNAs play a relevant ro...
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Chapter and Conference Paper
Isolation and Ex Vivo Characterization of the Immunophenotype and Function of Microglia/Macrophage Populations in Normal Dog Retina
Microglia are the primary resident immune cells of the retina and are involved in the pathogenesis of various retinal diseases. In this study, we optimized experimental conditions to isolate microglia from can...
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Article
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies
Considerable clinical and molecular variations have been known in retinal blinding diseases in man and also in dogs. Different forms of retinal diseases occur in specific breed(s) caused by mutations segregati...
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Chapter and Conference Paper
RPGRIP1 and Cone–Rod Dystrophy in Dogs
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...
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Chapter and Conference Paper
Development and Validation of a Canine-Specific Profiling Array to Examine Expression of Pro-apoptotic and Pro-survival Genes in Retinal Degenerative Diseases
We developed an expression profiling array to examine pro-apoptotic and pro-survival genes in dog retinal degeneration models. Gene-specific canine TaqMan assays were developed and included in a custom real-ti...
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Chapter and Conference Paper
Modeling the Structural Consequences of BEST1 Missense Mutations
Mutations in the bestrophin-1 gene (BEST1) are an important cause of inherited retinal disorders. Hitherto, over 100 unique allelic variants have been linked to the human BEST1 (hBEST1), and associated with disea...
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Article
COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia
Oculoskeletal dysplasia segregates as an autosomal recessive trait in the Labrador retriever and Samoyed canine breeds, in which the causative loci have been termed drd1 and drd2, respectively. Affected dogs exhi...
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Article
Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3
Rod-cone dysplasia type 2 (rcd2) is an autosomal recessive disorder that segregates in collie dogs. Linkage disequilibrium and meiotic linkage map** were combined to take advantage of population structure withi...
