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Articles 31 - 60 of 138
Full-Text Articles in Medicine and Health Sciences
Application Of A New Subretinal Injection Device In The Dog, András M. Komáromy, Signe E. Varner, Eugene De Juan, Gregory M. Acland, Gustavo D. Aguirre
Application Of A New Subretinal Injection Device In The Dog, András M. Komáromy, Signe E. Varner, Eugene De Juan, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
The use of a new subretinal injection device (RetinaJect™ Subretinal Cannula, SurModics, Inc., Eden Prairie, MN) to access the subretinal space in the canine model was evaluated. Subretinal injections were performed in 33 mongrel dogs between 2 and 52 months of age (median = 9 months). In 5 normal dogs the injection of 150 μl saline or India ink occurred by using a conventional subretinal injection device (CSID) with a 30-gauge anterior chamber irrigating cannula. The sclera had to be surgically exposed and penetrated before the subretinal injection with the CSID could occur. After removing the CSID, the conjunctiva over …
Development And Validation Of A Canine-Specific Profiling Array To Examine Expression Of Pro-Apoptotic And Pro-Survival Genes In Retinal Degenerative Diseases, Sem Genini, William Beltran, Gustavo D. Aguirre
Development And Validation Of A Canine-Specific Profiling Array To Examine Expression Of Pro-Apoptotic And Pro-Survival Genes In Retinal Degenerative Diseases, Sem Genini, William Beltran, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
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-time quantitative reverse transcription-PCR (qRT-PCR) array. Of the 96 selected genes, 93 belonged to known relevant pro-apoptotic and pro-survival pathways, and/or were positive controls expressed in retina, while three were housekeeping genes. Ingenuity Pathway Analysis (IPA) showed that the selected genes belonged to expected biological functions (cell death, cell-mediated immune response, cellular development, function, and maintenance) and pathways (death receptor signaling, apoptosis, TNFR1 signaling, and induction of apoptosis by HIV1). Validation of …
Col9a2 And Col9a3 Mutations In Canine Autosomal Recessive Oculoskeletal Dysplasia, Orly Goldstein, Richard Guyon, Anna Kukekova, Tatyana N. Kuznetsova, Susan E. Pearce-Kelling, Jennifer Johnson, Gustavo D. Aguirre, Gregory M. Acland
Col9a2 And Col9a3 Mutations In Canine Autosomal Recessive Oculoskeletal Dysplasia, Orly Goldstein, Richard Guyon, Anna Kukekova, Tatyana N. Kuznetsova, Susan E. Pearce-Kelling, Jennifer Johnson, Gustavo D. Aguirre, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
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 exhibit short-limbed dwarfism and severe ocular defects. The disease phenotype resembles human hereditary arthro-ophthalmopathies such as Stickler and Marshall syndromes, although these disorders are usually dominant. Linkage studies mapped drd1 to canine chromosome 24 and drd2 to canine chromosome 15. Positional candidate gene analysis then led to the identification of a 1-base insertional mutation in exon 1 of COL9A3 that cosegregates with drd1 and a 1,267-bp deletion mutation in the …
Viral-Antibody Complexes In Canine Adenovirus Type I (Cav-1) Ocular Lesion: Leukocyte Chemotaxis And Enzyme Release, Leland E. Carmichael, B. L. Medic, Stephen I. Bistner, Gustavo D. Aguirre
Viral-Antibody Complexes In Canine Adenovirus Type I (Cav-1) Ocular Lesion: Leukocyte Chemotaxis And Enzyme Release, Leland E. Carmichael, B. L. Medic, Stephen I. Bistner, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Canine adenovirus-type 1 (CAV-1)-antibody complexes caused severe anterior uveitis with corneal edema ("blue eye") when injected into the anterior chamber of normal dogs. The response of the anterior uvea to such immune complexes (IC) was similar to the spontaneously occurring disease. In the presence of complement (C'), IC caused release of neutrophile chemotactic factors. Following phagocytosis of IC-C', leukocytes released lysosomal enzymes, as indicated by the presence of acid phosphatase in the surrounding medium. Membrane bound viral aggregates, presumably IC, were common in neutrophiles and in macrophages that had infiltrated the anterior chamber of opaque eyes that occurred after intravenous …
Therapeutic Neonatal Hepatic Gene Therapy In Mucopolysaccharidosis Vii Dogs, Katherine Parker Ponder, John R. Melniczek, Lingfei Xu, Margaret A. Weil, Thomas M. O'Malley, Patricia A. O'Donnell, Van W. Knox, Gustavo D. Aguirre, Hamutal Mazrier, N Matthew Ellinwood, Margaret M. Sleeper, Albert M. Maguire, Susan W. Volk, Robert L. Mango, Jean Zweigle, John H. Wolfe, Mark E. Haskins
Therapeutic Neonatal Hepatic Gene Therapy In Mucopolysaccharidosis Vii Dogs, Katherine Parker Ponder, John R. Melniczek, Lingfei Xu, Margaret A. Weil, Thomas M. O'Malley, Patricia A. O'Donnell, Van W. Knox, Gustavo D. Aguirre, Hamutal Mazrier, N Matthew Ellinwood, Margaret M. Sleeper, Albert M. Maguire, Susan W. Volk, Robert L. Mango, Jean Zweigle, John H. Wolfe, Mark E. Haskins
Gustavo D. Aguirre, VMD, PhD
Dogs with mucopolysaccharidosis VII (MPS VII) were injected intravenously at 2–3 days of age with a retroviral vector (RV) expressing canine β-glucuronidase (cGUSB). Five animals received RV alone, and two dogs received hepatocyte growth factor (HGF) before RV in an attempt to increase transduction efficiency. Transduced hepatocytes expanded clonally during normal liver growth and secreted enzyme with mannose 6-phosphate. Serum GUSB activity was stable for up to 14 months at normal levels for the RV-treated dogs, and for 17 months at 67-fold normal for the HGF/RV-treated dog. GUSB activity in other organs was 1.5–60% of normal at 6 months for …
The Pathology Of The Feline Model Of Mucopolysaccharidosis Vi, Mark E. Haskins, Gustavo D. Aguirre, Peter F. Jezyk, Donald F. Patterson
The Pathology Of The Feline Model Of Mucopolysaccharidosis Vi, Mark E. Haskins, Gustavo D. Aguirre, Peter F. Jezyk, Donald F. Patterson
Gustavo D. Aguirre, VMD, PhD
Three cats with feline arylsulfatase-B-deficient mucopolysaccharidosis were studied by light and transmission electron microscopy. Membrane-bound cytoplasmic inclusions were present in hepatocytes, bone marrow granulocytes, vascular smooth muscle cells, and fibroblasts in skin, cornea, and cardiac valves. Central nervous system lesions were restricted to mild ventricular dilatation, perithelial cell vacuolation, and, in one animal, cord compression by vertebral exostoses. The lesions in these cats closely resembled those described in human patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
Up-Regulation Of Tumor Necrosis Factor Superfamily Genes In Early Phases Of Photoreceptor Degeneration, Sem Genini, William Beltran, Gustavo D. Aguirre
Up-Regulation Of Tumor Necrosis Factor Superfamily Genes In Early Phases Of Photoreceptor Degeneration, Sem Genini, William Beltran, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
We used quantitative real-time PCR to examine the expression of 112 genes related to retinal function and/or belonging to known pro-apoptotic, cell survival, and autophagy pathways during photoreceptor degeneration in three early-onset canine models of human photoreceptor degeneration, rod cone dysplasia 1 (rcd1), X-linked progressive retinal atrophy 2 (xlpra2), and early retinal degeneration (erd), caused respectively, by mutations in PDE6B, RPGRORF15, and STK38L. Notably, we found that expression and timing of differentially expressed (DE) genes correlated with the cell death kinetics. Gene expression profiles of rcd1 and xlpra2 were similar; however rcd1 was more severe as demonstrated by the results …
Recombinant Aav-Mediated Best1 Transfer To The Retinal Pigment Epithelium: Analysis Of Serotype-Dependent Retinal Effects, Karina E. Guziewicz, Barbara Zangerl, András M. Komáromy, Simone Iwabe, Vincent A. Chiodo, Sanford L. Boye, William W. Hauswirth, William Beltran, Gustavo D. Aguirre
Recombinant Aav-Mediated Best1 Transfer To The Retinal Pigment Epithelium: Analysis Of Serotype-Dependent Retinal Effects, Karina E. Guziewicz, Barbara Zangerl, András M. Komáromy, Simone Iwabe, Vincent A. Chiodo, Sanford L. Boye, William W. Hauswirth, William Beltran, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Mutations in the BEST1 gene constitute an underlying cause of juvenile macular dystrophies, a group of retinal disorders commonly referred to as bestrophinopathies and usually diagnosed in early childhood or adolescence. The disease primarily affects macular and paramacular regions of the eye leading to major declines in central vision later in life. Currently, there is no cure or surgical management for BEST1-associated disorders. The recently characterized human disease counterpart, canine multifocal retinopathy (cmr), recapitulates a full spectrum of clinical and molecular features observed in human bestrophinopathies and offers a valuable model system for development and testing of therapeutic strategies. In …
Steroids Do Not Prevent Photoreceptor Degeneration In The Light-Exposed T4r Rhodopsin Mutant Dog Retina Irrespective Of Ap-1 Inhibition, Danian Gu, William Beltran, Sue Pearce-Kelling, Zexiao Li, Gregory M. Acland, Gustavo D. Aguirre
Steroids Do Not Prevent Photoreceptor Degeneration In The Light-Exposed T4r Rhodopsin Mutant Dog Retina Irrespective Of Ap-1 Inhibition, Danian Gu, William Beltran, Sue Pearce-Kelling, Zexiao Li, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
PURPOSE. AP-1 has been proposed as a key intermediate linking exposure to light and photoreceptor cell death in rodent light-damage models. Inhibition of AP-1 associated with steroid administration also prevents light damage. In this study the role of steroids in inhibiting AP-1 activation and/or in preventing photoreceptor degeneration was examined in the rhodopsin mutant dog model. METHODS. The dogs were dark adapted overnight, eyes dilated with mydriatics; the right eye was light occluded and the fundus of the left eye photographed (∼15–17 overlapping frames) with a fundus camera. For biochemical studies, the dogs remained in the dark for 1 to …
Radiation Hybrid Mapping Of Cataract Genes In The Dog, Linda S. Hunter, Duska J. Sidjanin, Jennifer L. Johnson, Barbara Zangerl, Francis Galibert, Catherine Andre, Ewen Kirkness, Elijah Talamas, Gregory M. Acland, Gustavo D. Aguirre
Radiation Hybrid Mapping Of Cataract Genes In The Dog, Linda S. Hunter, Duska J. Sidjanin, Jennifer L. Johnson, Barbara Zangerl, Francis Galibert, Catherine Andre, Ewen Kirkness, Elijah Talamas, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose: To facilitate the molecular characterization of naturally occurring cataracts in dogs by providing the radiation hybrid location of 21 cataract-associated genes along with their closely associated polymorphic markers. These can be used for segregation testing of the candidate genes in canine cataract pedigrees. Methods: Twenty-one genes with known mutations causing hereditary cataracts in man and/or mouse were selected and mapped to canine chromosomes using a canine:hamster radiation hybrid RH5000 panel. Each cataract gene ortholog was mapped in relation to over 3,000 markers including microsatellites, ESTs, genes, and BAC clones. The resulting independently determined RH-map locations were compared with the …
Ocular Manifestations Of Selected Systemic Diseases, Gustavo D. Aguirre, Stephen L. Gross
Ocular Manifestations Of Selected Systemic Diseases, Gustavo D. Aguirre, Stephen L. Gross
Gustavo D. Aguirre, VMD, PhD
Systemic diseases can present ocular manifestations. In some cases, the ocular lesions are present along with other generalized lesions characteristic of the disease. In a few cases, however, only ocular lesions are present. The interpretation of these ophthalmologic findings, together with the generalized signs exhibited by the patient, are important in establishing a differential diagnosis and prognosis for the patient. This article reviews selected systemic diseases and their ocular manifestations. A more exhaustive review of the diseases has been already presented.
Intravitreal Injection Of Ciliary Neurotrophic Factor (Cntf) Causes Peripheral Remodeling And Does Not Prevent Photoreceptor Loss In Canine Rpgr Mutant Retina, William Beltran, Rong Wen, Gregory M. Acland, Gustavo D. Aguirre
Intravitreal Injection Of Ciliary Neurotrophic Factor (Cntf) Causes Peripheral Remodeling And Does Not Prevent Photoreceptor Loss In Canine Rpgr Mutant Retina, William Beltran, Rong Wen, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Ciliary neurotrophic factor (CNTF) rescues photoreceptors in several animal models of retinal degeneration and is currently being evaluated as a potential treatment for retinitis pigmentosa in humans. This study was conducted to test whether CNTF prevents photoreceptor cell loss in XLPRA2, an early onset canine model of X-linked retinitis pigmentosa caused by a frameshift mutation in RPGR exon ORF15. Four different treatment regimens of CNTF were tested in XLPRA2 dogs. Under anesthesia, the animals received at different ages an intravitreal injection of 12 μg of CNTF in the left eye. The right eye served as a control and was injected …
Linkage Disequilibrium Mapping In Domestic Dog Breeds Narrows The Progressive Rod-Cone Degeneration Interval And Identifies Ancestral Disease-Transmitting Chromosome, Orly Goldstein, Barbara Zangerl, Sue Pearce-Kelling, Duska J. Sidjanin, James W. Kijas, Jeanette Felix, Gregory M. Acland, Gustavo D. Aguirre
Linkage Disequilibrium Mapping In Domestic Dog Breeds Narrows The Progressive Rod-Cone Degeneration Interval And Identifies Ancestral Disease-Transmitting Chromosome, Orly Goldstein, Barbara Zangerl, Sue Pearce-Kelling, Duska J. Sidjanin, James W. Kijas, Jeanette Felix, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Canine progressive rod–cone degeneration (prcd) is a retinal disease previously mapped to a broad, gene-rich centromeric region of canine chromosome 9. As allelic disorders are present in multiple breeds, we used linkage disequilibrium (LD) to narrow the ∼6.4-Mb interval candidate region. Multiple dog breeds, each representing genetically isolated populations, were typed for SNPs and other polymorphisms identified from BACs. The candidate region was initially localized to a 1.5-Mb zero recombination interval between growth factor receptor-bound protein 2 (GRB2) and SEC14-like 1 (SEC14L). A fine-scale haplotype of the region was developed, which reduced the LD interval to 106 kb and identified …
Melanoma Of The Choroid In A Dog, Gustavo D. Aguirre, Gary Brown, Jerry A. Shields, Richard R. Dubielzig
Melanoma Of The Choroid In A Dog, Gustavo D. Aguirre, Gary Brown, Jerry A. Shields, Richard R. Dubielzig
Gustavo D. Aguirre, VMD, PhD
Intraocular tumors are rare in the dog. Of the reported neoplasms, melanomas are the most common. These tumors characteristically arise in the anterior uvea and secondarily infiltrate posteriorly into the choroid and/or anteriorly into the corneoscleral region. Advanced tumors may extend extraocularly. In the dog, isolated choroidal melanomas are extremely uncommon; to the authors' knowledge, only two cases have been previously reported. This report describes a pigmented choroidal tumor in a dog with clinical and histopathologic features resembling a benign melanoma.
Loss Of Cone Molecular Markers In Rhodopsin-Mutant Human Retinas With Retinitis Pigmentosa, Sinoj K. John, Julie E. Smith, Gustavo D. Aguirre, Ann H. Milam
Loss Of Cone Molecular Markers In Rhodopsin-Mutant Human Retinas With Retinitis Pigmentosa, Sinoj K. John, Julie E. Smith, Gustavo D. Aguirre, Ann H. Milam
Gustavo D. Aguirre, VMD, PhD
Purpose: To examine the effect of rhodopsin mutations on cone photoreceptors in human retinas with retinitis pigmentosa (RP). Methods: Four RP retinas with rhodopsin mutations and four normal retinas were examined by immunofluorescence with a battery of cell-specific antibodies against cone and rod cytoplasmic and outer segment membrane proteins. Areas of the retinas were studied that showed maximal preservation of photoreceptor structure. Results: All four RP retinas showed loss of rods, ranging from mild (T-17-M), to more severe (P-23-H), to advanced degeneration (Q-64-ter and G-106-R). The majority of cones in the T-17-M and P-23-H retinas were cytologically normal but showed …
Long-Term Restoration Of Rod And Cone Vision By Single Dose Raav-Mediated Gene Transfer To The Retina In A Canine Model Of Childhood Blindness, Gregory M. Acland, Gustavo D. Aguirre, Jean Bennett, Tomas S. Aleman, Artur V. Cideciyan, Jeannette Bennicelli, Nadine S. Dejneka, Susan E. Pearce-Kelling, Albert M. Maguire, Krzysztof Palczewski, William W. Hauswirth, Samuel G. Jacobson
Long-Term Restoration Of Rod And Cone Vision By Single Dose Raav-Mediated Gene Transfer To The Retina In A Canine Model Of Childhood Blindness, Gregory M. Acland, Gustavo D. Aguirre, Jean Bennett, Tomas S. Aleman, Artur V. Cideciyan, Jeannette Bennicelli, Nadine S. Dejneka, Susan E. Pearce-Kelling, Albert M. Maguire, Krzysztof Palczewski, William W. Hauswirth, Samuel G. Jacobson
Gustavo D. Aguirre, VMD, PhD
The short- and long-term effects of gene therapy using AAV-mediated RPE65 transfer to canine retinal pigment epithelium were investigated in dogs affected with disease caused by RPE65 deficiency. Results with AAV 2/2, 2/1, and 2/5 vector pseudotypes, human or canine RPE65 cDNA, and constitutive or tissue-specific promoters were similar. Subretinally administered vectors restored retinal function in 23 of 26 eyes, but intravitreal injections consistently did not. Photoreceptoral and postreceptoral function in both rod and cone systems improved with therapy. In dogs followed electroretinographically for 3 years, responses remained stable. Biochemical analysis of retinal retinoids indicates that mutant dogs have no …
Operating In The Dark: A Night-Vision System For Surgery In Retinas Susceptible To Light Damage, András M. Komáromy, Gregory M. Acland, Gustavo D. Aguirre
Operating In The Dark: A Night-Vision System For Surgery In Retinas Susceptible To Light Damage, András M. Komáromy, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
A standard operating microscope was modified with a bandpass infrared filter in the light path and infrared image intensifiers for each of the 2 eyepieces. We evaluated this system for subretinal injections in normal control dogs and those with a mutation in the rhodopsin gene. Rhodopsin-mutant dogs are a model for human autosomal dominant retinitis pigmentosa, and their retinas degenerate faster when exposed to modest light levels as used in routine clinical examinations. We showed that the mutant retinas developed severe generalized degeneration when exposed to the standard operating microscope light but not the infrared light. The modified operating microscope …
Electroretinography - Are We Misusing An Excellent Diagnostic Tool?, Gustavo D. Aguirre
Electroretinography - Are We Misusing An Excellent Diagnostic Tool?, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
No abstract provided.
Exclusion Of The Unfolded Protein Response In Light-Induced Retinal Degeneration In The Canine T4r Rho Model Of Autosomal Dominant Retinitis Pigmentosa, Stefania Marsilli, Sem Genini, Raghavi Sudharsan, Jeremy Gingrich, Gustavo D. Aguirre, William Beltran
Exclusion Of The Unfolded Protein Response In Light-Induced Retinal Degeneration In The Canine T4r Rho Model Of Autosomal Dominant Retinitis Pigmentosa, Stefania Marsilli, Sem Genini, Raghavi Sudharsan, Jeremy Gingrich, Gustavo D. Aguirre, William Beltran
Gustavo D. Aguirre, VMD, PhD
Purpose To examine the occurrence of endoplasmic reticulum (ER) stress and the unfolded protein response (UPR) following acute light damage in the naturally-occurring canine model of RHO-adRP (T4R RHOdog). Methods The left eyes of T4R RHOdogs were briefly light-exposed and retinas collected 3, 6 and 24 hours later. The contra-lateral eyes were shielded and used as controls. To evaluate the time course of cell death, histology and TUNEL assays were performed. Electron microscopy was used to examine ultrastructural alterations in photoreceptors at 15 min, 1 hour, and 6 hours after light exposure. Gene expression of markers of ER stress and …
Genetic And Phenotypic Variations Of Inherited Retinal Diseases In Dogs: The Power Of Within- And Across-Breed Studies, Keiko Miyadera, Gregory M. Acland, Gustavo D. Aguirre
Genetic And Phenotypic Variations Of Inherited Retinal Diseases In Dogs: The Power Of Within- And Across-Breed Studies, Keiko Miyadera, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
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 segregating within each isolated breeding population. While molecular studies to find genes and mutations underlying retinal diseases in dogs have benefited largely from the phenotypic and genetic uniformity within a breed, within- and across-breed variations have often played a key role in elucidating the molecular basis. The increasing knowledge of phenotypic, allelic, and genetic heterogeneities in canine retinal degeneration has shown that the overall picture is rather more complicated than …
Electroretinography In Veterinary Ophthalmology, Gustavo D. Aguirre
Electroretinography In Veterinary Ophthalmology, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
No abstract provided.
Immunolocalization Of Ciliary Neurotrophic Factor Receptor Α (Cntfrα) In Mammalian Photoreceptor Cells, William Beltran, Hermann Rohrer, Gustavo D. Aguirre
Immunolocalization Of Ciliary Neurotrophic Factor Receptor Α (Cntfrα) In Mammalian Photoreceptor Cells, William Beltran, Hermann Rohrer, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
PURPOSE: To characterize the site of expression of the α subunit of the receptor for ciliary neurotrophic factor (CNTFRα) in the retina of a variety of mammalian species, and determine whether CNTFRα is localized to photoreceptor cells. METHODS: The cellular distribution of CNTFRα (protein) was examined by immunocytochemistry in the adult retinas of several mammalian species that included mouse, rat, dog, cat, sheep, pig, horse, monkey, and human. Developing retinas from 3-day-old and 6-day-old rats were also included in this study. The molecular weight of CNTFRα in rat, dog, cat, pig, and human retinas was determined by immunoblotting. RESULTS: CNTFRα …
Exploring Human/Animal Intersections: Converging Lines Of Evidence In Comparative Models Of Aging, John Q. Trojanowski, Joan C. Hendricks, Kathryn Jedrziewski, F. Brad Johnson, Kathryn E. Michel, Rebecka S. Hess, Michael P. Cancro, Margaret M. Sleeper, Robert Pignolo, Karen L. Teff, Gustavo D. Aguirre, Virginia Man-Yee Lee, Dennis F. Lawler, Allan I. Pack, Peter F. Davies
Exploring Human/Animal Intersections: Converging Lines Of Evidence In Comparative Models Of Aging, John Q. Trojanowski, Joan C. Hendricks, Kathryn Jedrziewski, F. Brad Johnson, Kathryn E. Michel, Rebecka S. Hess, Michael P. Cancro, Margaret M. Sleeper, Robert Pignolo, Karen L. Teff, Gustavo D. Aguirre, Virginia Man-Yee Lee, Dennis F. Lawler, Allan I. Pack, Peter F. Davies
Gustavo D. Aguirre, VMD, PhD
At a symposium convened on March 8, 2007 by the Institute on Aging at the University of Pennsylvania, researchers from the University’s Schools of Medicine and Veterinary Medicine explored the convergence of aging research emerging from the two schools. Studies in human patients, animal models, and companion animals have revealed different but complementary aspects of the aging process, ranging from fundamental biologic aspects of aging to the treatment of age-related diseases, both experimentally and in clinical practice. Participants concluded that neither animal nor human research alone will provide answers to most questions about the aging process. Instead, an optimal translational …
Congenital Stationary Night Blindness In The Dog: Common Mutation In The Rpe65 Gene Indicates Founder Effect, Gustavo D. Aguirre, Victoria Baldwin, Sue Pearce-Kelling, Kristina Narfström, Kunal Ray, Gregory M. Acland
Congenital Stationary Night Blindness In The Dog: Common Mutation In The Rpe65 Gene Indicates Founder Effect, Gustavo D. Aguirre, Victoria Baldwin, Sue Pearce-Kelling, Kristina Narfström, Kunal Ray, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
Purpose: To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the United States and other countries, and are affected with congenital stationary night blindness. Methods: Fifteen briard dogs were studied, of which 10 were affected with csnb, and five were clinically normal. In addition, we tested samples from four Swedish dogs, and samples from a briard affected with progressive retinal atrophy. RPE65 cDNA was cloned a from retinal cDNA library by …
Canine And Human Visual Cortex Intact And Responsive Despite Early Retinal Blindness From Rpe65 Mutation, Geoffrey K. Aguirre, András M. Komáromy, Artur V. Cideciyan, David H. Brainard, Tomas S. Aleman, Alejandro J. Roman, Brian B. Avants, James C. Gee, Marc Korczykowski, William W. Hauswirth, Gregory M. Acland, Gustavo D. Aguirre, Samuel G. Jacobson
Canine And Human Visual Cortex Intact And Responsive Despite Early Retinal Blindness From Rpe65 Mutation, Geoffrey K. Aguirre, András M. Komáromy, Artur V. Cideciyan, David H. Brainard, Tomas S. Aleman, Alejandro J. Roman, Brian B. Avants, James C. Gee, Marc Korczykowski, William W. Hauswirth, Gregory M. Acland, Gustavo D. Aguirre, Samuel G. Jacobson
Gustavo D. Aguirre, VMD, PhD
Background RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA). Somatic gene therapy delivered to the retina of blind dogs with an RPE65 mutation dramatically restores retinal physiology and has sparked international interest in human treatment trials for this incurable disease. An unanswered question is how the visual cortex responds after prolonged sensory deprivation from retinal dysfunction. We therefore studied the cortex of RPE65-mutant dogs before and after retinal gene therapy. Then, we inquired whether there is visual pathway integrity and responsivity in adult humans …
Diseases Of The Retinal Pigment Epithelium-Photoreceptor Complex In Nonrodent Animal Models, Gustavo D. Aguirre, Jharna Ray, Lawrence E. Stramm
Diseases Of The Retinal Pigment Epithelium-Photoreceptor Complex In Nonrodent Animal Models, Gustavo D. Aguirre, Jharna Ray, Lawrence E. Stramm
Gustavo D. Aguirre, VMD, PhD
Book Overview: The retinal pigment epithelium is a critical tissue within the eye. It lies directly behind the retina, where it provides metabolic support to the photoreceptors and controls their local environment. As a result, the RPE is vital to retinal function, but also a site of aging and disease that cause dysfunction and visual loss. This book brings together comprehensive reviews of basic and clinical science concerning the RPE. It is organized to juxtapose chapters on RPE disease with chapters on the underlying pathophysiology. These include up-to-date accounts of growth factors, laser effects, proliferative vitreoretinopathy, Bruch's membrane pathology, as …
Cloning Of The Canine Abca4 Gene And Evaluation In Canine Cone-Rod Dystrophies And Progressive Retinal Atrophies, James K. Kijas, Barbara Zangerl, Brian Miller, Jacque Nelson, Ewen F. Kirkness, Gustavo D. Aguirre, Gregory M. Acland
Cloning Of The Canine Abca4 Gene And Evaluation In Canine Cone-Rod Dystrophies And Progressive Retinal Atrophies, James K. Kijas, Barbara Zangerl, Brian Miller, Jacque Nelson, Ewen F. Kirkness, Gustavo D. Aguirre, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
PURPOSE: To characterize a novel early onset canine retinal disease, and evaluate the ATP-binding cassette transporter gene ABCA4 as a potential candidate gene in this and other canine retinal degenerations. METHODS: Retinal disease was characterized ophthalmoscopically and electroretinographically in two pit bull terrier dogs and their purpose-bred descendants. All 50 exons of the canine ABCA4 gene were amplified, cloned and sequenced from retinal mRNA of a normal, a carrier and an affected animal, and polymorphisms identified. The latter were used to search for association between ABCA4 and retinal disease both within the study pedigrees and in additional canine breeds segregating …
Cloning And Characterization Of Canine Pax6 And Evaluation As A Candidate Gene In A Canine Model Of Aniridia, Linda S. Hunter, Duska J. Sidjanin, Manuel Villagrasa Hijar, Jennifer L. Johnson, Ewen Kirkness, Gregory M. Acland, Gustavo D. Aguirre
Cloning And Characterization Of Canine Pax6 And Evaluation As A Candidate Gene In A Canine Model Of Aniridia, Linda S. Hunter, Duska J. Sidjanin, Manuel Villagrasa Hijar, Jennifer L. Johnson, Ewen Kirkness, Gregory M. Acland, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
Purpose: Mutations in PAX6 cause human aniridia. The small eye (sey) mouse represents an animal model for aniridia. However, no large animal model currently exists. We cloned and characterized canine PAX6, and evaluated PAX6 for causal associations with inherited aniridia in dogs. Methods: Canine PAX6 was cloned from a canine retinal cDNA library using primers designed from human and mouse PAX6 consensus sequences. An RH3000 radiation hybrid panel was used to localize PAX6 within the canine genome. Genomic DNA was extracted from whole blood of dogs with inherited aniridia, and association testing was performed using markers on CFA18. Fourteen PAX6 …
Cloning Of Canine Galactokinase (Galk1) And Evaluation As A Candidate Gene For Hereditary Cataracts In Labrador Retrievers, Duska J. Sidjanin, John L. Mcelwee, Brian Miller, Gustavo D. Aguirre
Cloning Of Canine Galactokinase (Galk1) And Evaluation As A Candidate Gene For Hereditary Cataracts In Labrador Retrievers, Duska J. Sidjanin, John L. Mcelwee, Brian Miller, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
We identified a pedigree of Labrador retrievers (LR) that develop hereditary cataracts between 6 and 18 months of age. In humans, galactokinase deficiency is an autosomal recessive disorder characterized by juvenile onset of cataracts.1 In order to evaluate GALK1 as a candidate gene, we cloned and sequenced the canine GALK1 gene and tested a single nucleotide polymorphism (SNP) in the gene for segregation with cataracts in the LR pedigree.
A Meiotic Linkage Map Of The Silver Fox, Aligned And Compared To The Canine Genome, Anna V. Kukekova, Lyudmila N. Trut, Irina N. Oskina, Jennifer L. Johnson, Svetlana V. Temnykh, Anastasiya V. Kharlamova, Darya V. Shepeleva, Rimma G. Gulievich, Svetlana G. Shikhevich, Alexander S. Graphodatsky, Gustavo D. Aguirre, Gregory M. Acland
A Meiotic Linkage Map Of The Silver Fox, Aligned And Compared To The Canine Genome, Anna V. Kukekova, Lyudmila N. Trut, Irina N. Oskina, Jennifer L. Johnson, Svetlana V. Temnykh, Anastasiya V. Kharlamova, Darya V. Shepeleva, Rimma G. Gulievich, Svetlana G. Shikhevich, Alexander S. Graphodatsky, Gustavo D. Aguirre, Gregory M. Acland
Gustavo D. Aguirre, VMD, PhD
A meiotic linkage map is essential for mapping traits of interest and is often the first step toward understanding a cryptic genome. Specific strains of silver fox (a variant of the red fox, Vulpes vulpes), which segregate behavioral and morphological phenotypes, create a need for such a map. One such strain, selected for docility, exhibits friendly dog-like responses to humans, in contrast to another strain selected for aggression. Development of a fox map is facilitated by the known cytogenetic homologies between the dog and fox, and by the availability of high resolution canine genome maps and sequence data. Furthermore, the …