Results 51 to 60 of about 2,008 (179)

Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]

, 2017
Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D., Autelitano, A., Damante, G., Maver, A., Montanari, C., Montesano, G., Paci, S., Pece, A., Penco, S., Peterlin, B., Rossetti, L. M.   +10 more
core   +2 more sources

Insights gained from gene therapy in animal models of retGC1 deficiency

Frontiers in Molecular Neuroscience, 2014
Vertebrate species possess two retinal guanylate cyclases (retGC1 and retGC2) and at least two guanylate cyclase activating proteins (GCAPs), GCAP1 and GCAP2. GCAPs function as Ca2+ sensors that regulate the activity of guanylate cyclases.
Shannon Elizabeth Boye
doaj   +1 more source

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources

Novel Complex GUCY2D Mutation in Japanese Family with Cone-Rod Dystrophy

Investigative Ophthalmology & Visual Science, 2004
All mutations in the retinal guanylate cyclase gene (GUCY2D) that causes autosomal dominant cone-rod dystrophy (CORD) are associated with an amino acid substitution in codon 838. A novel heterozygous complex missense mutation of I915T and G917R in the GUCY2D gene was found in a Japanese family with autosomal dominant CORD.
Sei, Ito, Makoto, Nakamura, Yoshihisa, Nuno, Yoshitaka, Ohnishi, Teruo, Nishida, Yozo, Miyake   +5 more
openaire   +2 more sources

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred [PDF]

BMC Medical Genetics, 2016
Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA.Thirty individuals of a single kindred, including eight affected with LCA, were ...
Gradstein, Libe, Zolotushko, Jenny, Sergeev, Yuri V., Lavy, Itay, Narkis, Ginat, Perez, Yonatan, Guigui, Sarah, Sharon, Dror, Banin, Eyal, Walter, Eyal, Lifshitz, Tova, Birk, Ohad S.   +11 more
openaire   +2 more sources

Rpgrip1 is required for rod outer segment development and ciliary protein trafficking in zebrafish [PDF]

, 2017
The authors would like to thank the Royal Society of London, the National Eye Research Centre, the Visual Research Trust, Fight for Sight, the W.H. Ross Foundation, the Rosetrees Trust, and the Glasgow Children’s Hospital Charity for supporting this work.
A Eblimit, A Hameed, AF Wright, AI Hollander den, B Kennedy, BW Draper, C Insinna, C Turney, CA Murga-Zamalloa, CM Louie, CS Mellersh, D Deretic, D Mustafi, DH Hong, EM Morrow, F Liu, G Stearns, G Ying, H Patil, H Wang, HH Arts, J Kim, J Wang, J Won, JC Booij, JE Westfall, JM Corless, JP Boylan, KL Cerveny, KL Coene, L Sang, MM Humphries, MV Nachury, O Rinner, OL Moritz, P Castagnet, PD Alfinito, PH Balm, R Bachmann-Gagescu, R Roepman, R Roepman, S Gerber, SC Neuhauss, SE Brockerhoff, SR Patnaik, TA Mavlyutov, TP Dryja, V Traverso, VS Lopes, X Shu, X Shu, X Shu., Y Wada., Y Zhao, YV Makhankov   +54 more
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IFT88 transports Gucy2d, a guanylyl cyclase, to maintain sensory cilia function inDrosophila [PDF]

, 2020
AbstractCilia are involved in a plethora of motility and sensory-related functions. Ciliary defects cause several ciliopathies, some of which with late-onset, suggesting cilia are actively maintained. While much is known about cilia assembly, little is understood about the mechanisms of their maintenance.
Sascha Werner, Sihem Zitouni, Pilar Okenve-Ramos, Susana Mendonça, Anje Sporbert, Christian Spalthoff, Martin C. Göpfert, Swadhin Chandra Jana, Mónica Bettencourt-Dias   +8 more
openaire   +2 more sources

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis

BMC Ophthalmology, 2022
Background Inherited retinal degenerations (IRDs) affect daylight and night vision to different degrees. In the current work, we devise a method to quantify mobility under dark-adapted conditions in patients with severe childhood blindness due to Leber ...
Alejandro J. Roman, Artur V. Cideciyan, Vivian Wu, Abraham A. Mascio, Arun K. Krishnan, Alexandra V. Garafalo, Samuel G. Jacobson   +6 more
doaj   +1 more source

REEP6 Deficiency Leads to Retinal Degeneration through Disruption of ER Homeostasis and Protein Trafficking [PDF]

, 2017
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy. We recently identified mutations in REEP6, which encodes the receptor expression enhancing protein 6, in several families with autosomal recessive RP.
Agrawal, SA, Asomugha, C, Bellingham, J, Burgoyne, T, Cheetham, ME, Chen, R, Eblimit, A, Futter, CE, Hayes, MJ, Lane, A, Li, Y, Munro, PM, Nichols, R, Parfitt, DA, Wang, K, Xu, M   +15 more
core   +1 more source

Electroretinographic Abnormalities in Parents of Patients With Leber Congenital Amaurosis Who Have Heterozygous GUCY2D Mutations [PDF]

Archives of Ophthalmology, 2002
Leber congenital amaurosis (LCA) is an infrequently encountered congenital form of retinitis pigmentosa with marked genetic and clinical heterogeneity. Thus far, 10 genes have been identified in this disorder since 1996. In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific,
KOENEKOOP RK, FISHMAN GA, IANNACCONE A, EZZELDIN H, CICCARELLI ML, BALDI, Alfonso, SUNNESS JS, LOTERY AJ, JABLONSKI MM, PITTLER SJ, MAUMENEE I.   +10 more
openaire   +3 more sources