Search Results - "Mackay, Donna S."

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma by Mackay, Donna S, Bennett, Thomas M, Shiels, Alan

“…Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion…”
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Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis by Sergouniotis, Panagiotis I., Davidson, Alice E., Mackay, Donna S., Li, Zheng, Yang, Xu, Plagnol, Vincent, Moore, Anthony T., Webster, Andrew R.

“…Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing high genetic…”
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Detailed Phenotypic and Genotypic Characterization of Bietti Crystalline Dystrophy by Halford, Stephanie, PhD, Liew, Gerald, PhD, Mackay, Donna S., PhD, Sergouniotis, Panagiotis I., PhD, Holt, Richard, DPhil, Broadgate, Suzanne, PhD, Volpi, Emanuela V., PhD, Ocaka, Louise, PhD, Robson, Anthony G., PhD, Holder, Graham E., PhD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD

“…Objective To provide a detailed phenotype/genotype characterization of Bietti crystalline dystrophy (BCD). Design Observational case series. Participants…”
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The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients by Fujinami, Kaoru, MD, Sergouniotis, Panagiotis I., MD, Davidson, Alice E., PhD, Mackay, Donna S., PhD, Tsunoda, Kazushige, MD, Tsubota, Kazuo, MD, Robson, Anthony G., PhD, Holder, Graham E., MD, Moore, Anthony T., MD, Michaelides, Michel, MD, Webster, Andrew R., MD

“…Purpose To describe the phenotypic presentation of a cohort of individuals with homozygous disease-associated ABCA4 variants. Design Retrospective case series…”
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Mutation of the melastatin-related cation channel, TRPM3, underlies inherited cataract and glaucoma by Bennett, Thomas M, Mackay, Donna S, Siegfried, Carla J, Shiels, Alan

“…Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or…”
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A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations by Fujinami, Kaoru, Lois, Noemi, Davidson, Alice E, Mackay, Donna S, Hogg, Chris R, Stone, Edwin M, Tsunoda, Kazushige, Tsubota, Kazuo, Bunce, Catey, Robson, Anthony G, Moore, Anthony T, Webster, Andrew R, Holder, Graham E, Michaelides, Michel

“…Purpose To investigate the clinical and electrophysiologic natural history of Stargardt disease and correlate with the genotype. Design Cohort study of 59…”
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Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans by Li, Zheng, Sergouniotis, Panagiotis I., Michaelides, Michel, Mackay, Donna S., Wright, Genevieve A., Devery, Sophie, Moore, Anthony T., Holder, Graham E., Robson, Anthony G., Webster, Andrew R.

“…Complete congenital stationary night blindness (cCSNB) is associated with loss of function of rod and cone ON bipolar cells in the mammalian retina. In humans,…”
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Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q by MACKAY, Donna S, ANDLEY, Usha P, SHIELS, Alan

“…Hereditary cataract is a clinically and genetically heterogeneous lens disease that accounts for a significant proportion of visual impairment and blindness in…”
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Refractive Defects and Cataracts in Mice Lacking Lens Intrinsic Membrane Protein-2 by Shiels, Alan, King, Jennifer M, Mackay, Donna S, Bassnett, Steven

“…To characterize the optical properties of lenses from mice deficient in the gene for lens intrinsic membrane protein-2 (Lim2), which encodes the second most…”
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Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy by Tan, Mei Hong, Mackay, Donna S, Cowing, Jill, Tran, Hoai Viet, Smith, Alexander J, Wright, Genevieve A, Dev-Borman, Arundhati, Henderson, Robert H, Moradi, Phillip, Russell-Eggitt, Isabelle, MacLaren, Robert E, Robson, Anthony G, Cheetham, Michael E, Thompson, Dorothy A, Webster, Andrew R, Michaelides, Michel, Ali, Robin R, Moore, Anthony T

“…Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders…”
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A novel α-synuclein missense mutation in Parkinson disease by Proukakis, Christos, Dudzik, Christopher G, Brier, Timothy, MacKay, Donna S, Cooper, J Mark, Millhauser, Glenn L, Houlden, Henry, Schapira, Anthony H

“…Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation…”
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NMNAT1 mutations cause Leber congenital amaurosis by Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A

“…Eric Pierce, Xiaowu Gai and colleagues identify mutations in NMNAT1 as a new cause of Leber congenital amaurosis, an early-onset form of retinal degeneration…”
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RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy by Davidson, Alice E., Sergouniotis, Panagiotis I., Mackay, Donna S., Wright, Genevieve A., Waseem, Naushin H., Michaelides, Michel, Holder, Graham E., Robson, Anthony G., Moore, Anthony T., Plagnol, Vincent, Webster, Andrew R.

“…ABSTRACT In one consanguineous family with retinitis pigmentosa (RP), a condition characterized by progressive visual loss due to retinal degeneration,…”
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Focus on Molecules: Cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2) by Mackay, Donna S., Halford, Stephanie

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Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction by Hull, Sarah, Malik, Aeesha N J, Arno, Gavin, Mackay, Donna S, Plagnol, Vincent, Michaelides, Michel, Mansour, Sahar, Albanese, Assunta, Brown, Katrina Tatton, Holder, Graham E, Webster, Andrew R, Heath, Paul T, Moore, Anthony T

“…A multiorgan syndromic disorder characterized by sideroblastic anemia, immunodeficiency, periodic fever, and developmental delay with an uncharacterized…”
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Focus on Molecules: Centrosomal protein 290 (CEP290) by Moradi, Phillip, Davies, Wayne L., Mackay, Donna S., Cheetham, Michael E., Moore, Anthony T.

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A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity by Borman, Arundhati Dev, Pearce, Laura R., Mackay, Donna S., Nagel-Wolfrum, Kerstin, Davidson, Alice E., Henderson, Robert, Garg, Sumedha, Waseem, Naushin H., Webster, Andrew R., Plagnol, Vincent, Wolfrum, Uwe, Farooqi, I. Sadaf, Moore, Anthony T.

“…ABSTRACT Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation…”
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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract by Mackay, Donna S, Bennett, Thomas M, Culican, Susan M, Shiels, Alan

“…Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without…”
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Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1 by Henderson, Robert H, Mackay, Donna S, Li, Zheng, Moradi, Phillip, Sergouniotis, Panagiotis, Russell-Eggitt, Isabelle, Thompson, Dorothy A, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Moore, Anthony T

“…To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the retinal phenotype and visual prognosis. A…”
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Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study by Dev Borman, Arundhati, Ocaka, Louise A, Mackay, Donna S, Ripamonti, Caterina, Henderson, Robert H, Moradi, Phillip, Hall, Georgina, Black, Graeme C, Robson, Anthony G, Holder, Graham E, Webster, Andrew R, Fitzke, Fred, Stockman, Andrew, Moore, Anthony T

“…To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol…”
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