Search Results - "Winkler, Paige A."

Architecture of the TRPM2 channel and its activation mechanism by ADP-ribose and calcium by Huang, Yihe, Winkler, Paige A., Sun, Weinan, Lü, Wei, Du, Juan

“…Transient receptor potential melastatin 2 (TRPM2) is a calcium-permeable, non-selective cation channel that has an essential role in diverse physiological…”
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Elevated retinal cGMP is not associated with elevated circulating cGMP levels in a canine model of retinitis pigmentosa by Occelli, Laurence M, Sun, Kelian, Winkler, Paige A, Morgan, Brandy J, Petersen-Jones, Simon M

“…To investigate whether raised levels of retinal cyclic guanosine monophosphate (cGMP) was reflected in plasma levels in PDE6A-/- dogs. Retina was collected…”
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Large Animal Models of Inherited Retinal Degenerations: A Review by Winkler, Paige A, Occelli, Laurence M, Petersen-Jones, Simon M

“…Studies utilizing large animal models of inherited retinal degeneration (IRD) have proven important in not only the development of translational therapeutic…”
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Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach by Petersen-Jones, Simon M, Occelli, Laurence M, Winkler, Paige A, Lee, Winston, Sparrow, Janet R, Tsukikawa, Mai, Boye, Sanford L, Chiodo, Vince, Capasso, Jenina E, Becirovic, Elvir, Schön, Christian, Seeliger, Mathias W, Levin, Alex V, Michalakis, Stylianos, Hauswirth, William W, Tsang, Stephen H

“…Retinitis pigmentosa (RP) is a major cause of blindness that affects 1.5 million people worldwide. Mutations in cyclic nucleotide-gated channel β 1 (CNGB1)…”
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A large animal model for CNGB1 autosomal recessive retinitis pigmentosa by Winkler, Paige A, Ekenstedt, Kari J, Occelli, Laurence M, Frattaroli, Anton V, Bartoe, Joshua T, Venta, Patrick J, Petersen-Jones, Simon M

“…Retinal dystrophies in dogs are invaluable models of human disease. Progressive retinal atrophy (PRA) is the canine equivalent of retinitis pigmentosa (RP)…”
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A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs by Winkler, Paige A, Gornik, Kara R, Ramsey, David T, Dubielzig, Richard R, Venta, Patrick J, Petersen-Jones, Simon M, Bartoe, Joshua T

“…The first white Doberman pinscher (WDP) dog was registered by the American Kennel Club in 1976. The novelty of the white coat color resulted in extensive line…”
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Electron cryo-microscopy structure of a human TRPM4 channel by Winkler, Paige A., Huang, Yihe, Sun, Weinan, Du, Juan, Lü, Wei

“…Ca 2+ -activated, non-selective (CAN) ion channels sense increases of the intracellular Ca 2+ concentration, producing a flux of Na + and/or K + ions that…”
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Comparison of Developmental Dynamics in Human Fetal Retina and Human Pluripotent Stem Cell-Derived Retinal Tissue by Singh, Ratnesh K, Winkler, Paige A, Binette, Francois, Petersen-Jones, Simon M, Nasonkin, Igor O

“…Progressive vision loss, caused by retinal degenerative (RD) diseases such as age-related macular degeneration, retinitis pigmentosa, and Leber congenital…”
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Residual rod function in CNGB1 mutant dogs by Petersen-Jones, Simon M., Pasmanter, Nathaniel, Occelli, Laurence M., Querubin, Janice R., Winkler, Paige A.

“…Purpose Mutations in the cyclic nucleotide-gated (CNG) channel beta subunit ( CNGB1 ) are an important cause of recessive retinitis pigmentosa. We identified a…”
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Genome-wide methylation patterns from canine nanopore assemblies by Schall, Peter Z, Winkler, Paige A, Petersen-Jones, Simon M, Yuzbasiyan-Gurkan, Vilma, Kidd, Jeffrey M

“…Abstract Recent advances in long-read sequencing have enabled the creation of reference-quality genome assemblies for multiple individuals within a species. In…”
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Preliminary characterization of a novel form of progressive retinal atrophy in the German Spitz dog associated with a frameshift mutation in GUCY2D by Bortolini, Mariza, Winkler, Paige A., Moreno, Juan Carlos Duque, Sato, Mario Teruo, Guareschi, Bianca Luiza Valduga, Petersen‐Jones, Simon M., Montiani‐Ferreira, Fabiano

“…Objective To describe the clinical, preliminary electroretinographic and optical coherence tomography features of a newly identified form of progressive…”
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A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype by Occelli, Laurence M, Daruwalla, Anahita, De Silva, Samantha R, Winkler, Paige A, Sun, Kelian, Pasmanter, Nathaniel, Minella, Andrea, Querubin, Janice, Lyons, Leslie A, Robson, Anthony G, Heon, Elise, Michaelides, Michel, Webster, Andrew R, Palczewski, Krzysztof, Vincent, Ajoy, Mahroo, Omar A, Kiser, Philip D, Petersen-Jones, Simon M

“…Abstract Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leading to a range of clinical phenotypes…”
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Development of a translatable gene augmentation therapy for CNGB1-retinitis pigmentosa by Occelli, Laurence M., Zobel, Lena, Stoddard, Jonathan, Wagner, Johanna, Pasmanter, Nathaniel, Querubin, Janice, Renner, Lauren M., Reynaga, Rene, Winkler, Paige A., Sun, Kelian, Marinho, Luis Felipe L.P., O’Riordan, Catherine R., Frederick, Amy, Lauer, Andreas, Tsang, Stephen H., Hauswirth, William W., McGill, Trevor J., Neuringer, Martha, Michalakis, Stylianos, Petersen-Jones, Simon M.

“…In this study, we investigate a gene augmentation therapy candidate for the treatment of retinitis pigmentosa (RP) due to cyclic nucleotide-gated channel beta…”
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Mapping the locus for ocular melanosis in Cairn Terriers by Winkler, Paige A, Dawson-Baglien, Ethan M, Coffey, Madeline C, Venta, Patrick J, Ekenstedt, Kari J, Petersen-Jones, Simon M

“…To map the disease locus for familial ocular melanosis (OM) in the Cairn Terrier. Cairn Terriers with OM and normal control dogs. A genome-wide association…”
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An unusual inherited electroretinogram feature with an exaggerated negative component in dogs by Petersen‐Jones, Simon M., Pasmanter, Nate, Occelli, Laurence M., Gervais, Kristen J., Mowat, Freya M., Querubin, Janice, Winkler, Paige A.

“…Objectives To assess an inherited abnormal negative response electroretinogram (NRE) that originated in a family of Papillon dogs. Animals Studied Thirty‐eight…”
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A novel mutation in PDE6B in Spanish Water Dogs with early‐onset progressive retinal atrophy by Winkler, Paige A., Ramsey, Harrison D., Petersen‐Jones, Simon M.

“…Objective To identify the underlying mutation in a recently identified early‐onset progressive retinal atrophy (PRA) in the Spanish Water Dog (SWD) breed…”
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Development of retinal bullae in dogs with progressive retinal atrophy by Marinho, Luis Felipe L. P., Occelli, Laurence M., Bortolini, Mariza, Sun, Kelian, Winkler, Paige A., Montiani‐Ferreira, Fabiano, Petersen‐Jones, Simon M.

“…Objective To report the development of focal bullous retinal detachments (bullae) in dogs with different forms of progressive retinal atrophy (PRA). Procedures…”
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A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy by Letko, Anna, Minor, Katie M, Friedenberg, Steven G, Shelton, G Diane, Salvador, Jill Pesayco, Mandigers, Paul J J, Leegwater, Peter A J, Winkler, Paige A, Petersen-Jones, Simon M, Stanley, Bryden J, Ekenstedt, Kari J, Johnson, Gary S, Hansen, Liz, Jagannathan, Vidhya, Mickelson, James R, Drögemüller, Cord

“…Laryngeal paralysis associated with a generalized polyneuropathy (LPPN) most commonly exists in geriatric dogs from a variety of large and giant breeds. The…”
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Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study by Svensson, Marika, Olsén, Lena, Winkler, Paige A., Petersen-Jones, Simon M., Bergström, Tomas, Garncarz, Yacek, Narfström, Kristina

“…OBJECTIVE: To describe ophthalmic, functional, structural, and genetical characteristics of progressive retinal atrophy (PRA) in the polski owczarek nizinny…”
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A tool set to allow rapid screening of dog families with PRA for association with candidate genes by Winkler, Paige A., Davis, Jennifer A., Petersen‐Jones, Simon M., Venta, Patrick J., Bartoe, Joshua T.

“…Objective To develop a method to rapidly screen candidate genes for association with recessively inherited progressive retinal atrophy (PRA) in pedigrees of…”
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