Genomes and Genes
Affiliation: University of Southampton
- Pharmacogenetic associations with vascular endothelial growth factor inhibition in participants with neovascular age-related macular degeneration in the IVAN StudyAndrew J Lotery
Clinical Neurosciences Research Group, Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, United Kingdom Electronic address
Ophthalmology 120:2637-43. 2013..The objectives were to replicate 3 reported pharmacogenetic associations of response in nAMD and to test for novel associations...
- Common spectral domain OCT and electrophysiological findings in different pattern dystrophiesShabeeba Rashed Hannan
Department of Ophthalmology, Southampton University Hospital, Southampton, UK
Br J Ophthalmol 97:605-10. 2013..2) To correlate visual acuity (VA) with central macular thickness (CMT), the electrooculogram (EOG) and pattern electroretinogram (PERG)...
- Burden of illness, visual impairment and health resource utilisation of patients with neovascular age-related macular degeneration: results from the UK cohort of a five-country cross-sectional studyAndrew Lotery
University of Southampton, Southampton Eye Unit, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
Br J Ophthalmol 91:1303-7. 2007..Quantitative data regarding the impact of neovascular age-related macular degeneration (NV-AMD) on individuals and society is a prerequisite for rational decision-making processes when evaluating alternative treatments for the disease...
- Progress in defining the molecular biology of age related macular degenerationAndrew Lotery
Clinical Neurosciences Division, University of Southampton, Southampton General Hospital, Southampton, SO16 6YD, UK
Hum Genet 122:219-36. 2007..This review will give an insight into these developments and will summarise our current knowledge of the molecular biology of AMD...
- Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxaAndrew J Lotery
Human Genetics Division, University of Southampton, Southampton, Hampshire, United Kingdom
Hum Mutat 27:568-74. 2006..Such knowledge may ultimately lead to the development of novel therapies for this common disease...
- Chlamydia infection status, genotype, and age-related macular degenerationSam Khandhadia
Division of Clinical Neurosciences, University of Southampton, Southampton General Hospital, Southampton, UK
Mol Vis 18:29-37. 2012....
- Determination of a gene and environment risk model for age-related macular degenerationJane Gibson
Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division, Southampton General Hospital, Southampton, UK
Br J Ophthalmol 94:1382-7. 2010..In the current study we interrogated the genomic region in linkage disequilibrium (LD) with the SERPING1 gene, and modelled the contribution to disease of known genetic and environmental AMD risk factors...
- Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control studySarah Ennis
Genetic Epidemiology and Bioinformatics Group, University of Southampton, Human Genetics Division MP 808, Southampton General Hospital, Southampton, UK
Lancet 372:1828-34. 2008..Variants in complement 3 (C3) and an HLA locus containing both factor B and C2 genes have also been implicated. We aimed to identify further genetic risk factors for this disease...
- Genome-wide association study of primary open angle glaucoma risk and quantitative traitsJane Gibson
Genetic Epidemiology and Genomic Informatics Group, Human Genetics, Faculty of Medicine, University of Southampton, Southampton General Hospital, Tremona Road, Southampton, UK
Mol Vis 18:1083-92. 2012..Few genes have been detected that influence POAG susceptibility and other genes are therefore likely to be involved. We analyzed carefully characterized POAG cases in a genome-wide association study (GWAS)...
- The molecular genetics of congenital idiopathic nystagmusJames Self
University of Southampton, Southampton, UK
Semin Ophthalmol 21:87-90. 2006..If linkage experiments are used to find "nystagmus genes," their power will depend heavily on accurate phenotyping to avoid misdiagnosis due to masquerading conditions and phenotypic variations within pedigrees...
- Generation of light-sensitive photoreceptor phenotypes by genetic modification of human adult ocular stem cells with CrxCatherine Jomary
Clinical Neurosciences Division, University of Southampton, South Laboratory and Pathology Block, Southampton General Hospital, Southampton, United Kingdom
Invest Ophthalmol Vis Sci 51:1181-9. 2010..This study compared the effect of the transcription factor Crx (cone, rod homeobox) on the differentiation of human adult corneal (hCSC) and retinal (hRSC) stem cells into functional photoreceptors...
- Adult limbal neurosphere cells: a potential autologous cell resource for retinal cell generationXiaoli Chen
Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, United Kingdom
PLoS ONE 9:e108418. 2014..Complete differentiation is likely to require more comprehensive regulation; however, the accessibility and plasticity of LNS makes them an attractive cell resource for future study and ultimately therapeutic application. ..
- Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene regionSarah Ennis
Genetic Epidemiology and Bioinformatics Group, Human Genetics Division MP 808, Southampton General Hospital, Southampton, UK
Br J Ophthalmol 91:966-70. 2007..To present results from a nested association study of the complement factor H (CFH) gene region using a novel methodology that uses a high-resolution genetic linkage disequilibrium map to estimate a point location for a causal mutation...
- Ranibizumab (Lucentis) versus bevacizumab (Avastin): modelling cost effectivenessJames Raftery
Wessex Institute for Health R and D, Medical School, University of Southampton, Southampton, UK
Br J Ophthalmol 91:1244-6. 2007..Continued unlicensed use of bevacizumab raises ethical, legal and policy questions. Public pressure may be the most potent weapon in persuading Genentech to license bevacizumab for AMD...
- Oxidation and age-related macular degeneration: insights from molecular biologySam Khandhadia
Clinical Neurosciences Division, School of Medicine, University of Southampton, UK
Expert Rev Mol Med 12:e34. 2010..This article reviews the role of oxidative stress in AMD and the potential therapies that might have a role in preventing the blindness resulting from this disease...
- Association of HLA class I and class II polymorphisms with age-related macular degenerationSrini V Goverdhan
Human Genetics Division, University of Southampton, Duthie Building, Southampton General Hospital, Tremona Road, Southampton SO16 6YD, UK
Invest Ophthalmol Vis Sci 46:1726-34. 2005..To evaluate whether HLA genotypes are associated with age-related macular degeneration (AMD)...
- Characterisation of mouse limbal neurosphere cells: a potential cell source of functional neuronsXiaoli Chen
Clinical and Experimental Sciences, Clinical Neurosciences Research Group, Faculty of Medicine, University of Southampton, Southampton General Hospital, Southampton, UK
Br J Ophthalmol 96:1431-7. 2012..To characterise the origin, ultrastructure and functional properties of corneal limbal neurospheres (LNS)...
- A review of the molecular genetics of congenital Idiopathic Nystagmus (CIN)James Self
Clinical Neurosciences Division, University of Southampton, Southampton, United Kingdom
Ophthalmic Genet 28:187-91. 2007....
- Age-related macular degeneration is associated with the HLA-Cw*0701 Genotype and the natural killer cell receptor AA haplotypeSrinivas V Goverdhan
Division of Clinical Neurosciences, University of Southampton, Southampton General Hospital, Southampton, United Kingdom
Invest Ophthalmol Vis Sci 49:5077-82. 2008..To determine the association of human leukocyte antigen (HLA) C and its cognate killer cell immunoglobulin-like receptor (KIR) ligands with age-related macular degeneration (AMD)...
- Allelic variation of the FRMD7 gene in congenital idiopathic nystagmusJames E Self
Clinical Neurosciences Division, University of Southampton, Southampton, England
Arch Ophthalmol 125:1255-63. 2007..To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of the FRMD7 gene in congenital idiopathic nystagmus...
- The chemistry of retinal transplantation: the influence of polymer scaffold properties on retinal cell adhesion and controlAndrew J Treharne
School of Chemistry, University of Southampton, UK
Br J Ophthalmol 95:768-73. 2011....
- Optimisation of polymer scaffolds for retinal pigment epithelium (RPE) cell transplantationHeather A J Thomson
Clinical Neurosciences Division, Southampton General Hospital, Southampton SO16 6YD, UK
Br J Ophthalmol 95:563-8. 2011..To evaluate a variety of copolymers as suitable scaffolds to facilitate retinal pigment epithelium (RPE) transplantation...
- Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation familyAndre R Ismail
Southampton Eye Unit, Southampton, United Kingdom
Ophthal Plast Reconstr Surg 23:484-6. 2007..A novel phenotype in a 3-generation family with early-onset aponeurotic ptosis and corneal limbal vascularization is described. Karyotype analysis was normal in the proband, and autosomal dominant transmission is demonstrated...
- Missense variations in the fibulin 5 gene and age-related macular degenerationEdwin M Stone
Center for Macular Degeneration, University of Iowa, Carver College of Medicine, Iowa City 52242, USA
N Engl J Med 351:346-53. 2004..The study of a rare mendelian form of macular degeneration implicated fibulin genes in the pathogenesis of more common forms of this disease. We evaluated five fibulin genes in a large series of patients with AMD...
- Case of Stargardt disease caused by uniparental isodisomyJohn H Fingert
Dept of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Arch Ophthalmol 124:744-5. 2006
- Idiopathic juxtafoveolar retinal telangiectasis in monozygotic twinsShabeeba R Hannan
Southampton Eye Unit, Tremona Road, Southampton SO16 6YD, UK
Br J Ophthalmol 91:1729-30. 2007
- Retinal pigment epithelial tear following intravitreal bevacizumab for choroidal neovascular membrane due to age-related macular degenerationShabeeba R Hannan
Br J Ophthalmol 91:977-8. 2007
- Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retinaAndrew J Lotery
Department of Ophthalmology, Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA
Hum Gene Ther 14:1663-71. 2003..Our results support the utility of AAV5 for rod photoreceptor degeneration therapies...
- Genetics update of macular diseasesMina Chung
Department of Ophthalmology, University of Rochester Medical Center, 601 Elmwood Avenue, Box 549, Rochester, NY 14642, USA
Ophthalmol Clin North Am 15:459-65. 2002..Further insight into the biochemical processes that cause macular dystrophies, including AMD, will contribute to our ability to develop treatments that will become increasingly vital in the years to come...
- Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutationsRobert K Koenekoop
McGill Ocular Genetics Laboratory, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
Arch Ophthalmol 120:1325-30. 2002..In the future, LCA may become treatable by gene and/or pharmacological intervention, and these therapies will likely be gene specific, giving major significance to rapid gene identification and gene-phenotype studies...
- Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectorsAndrew J Lotery
Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA
Hum Gene Ther 13:689-96. 2002..rFIV vectors have therapeutic potential and could be exploited to develop gene therapy for the human eye...