Research Topics
Genomes and Genes
| Alan F WrightSummaryAffiliation: National Institute for Medical Research Country: UK Publications
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Detail Information
Publications
A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathiesAlan F Wright
Medical Research Council Human Genetics Unit at the Institute of Genetics and Molecular Medicine, Edinburgh, UK
Nat Genet 43:1176-7. 2011..This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease...
Rhegmatogenous retinal detachment in Scotland: research design and methodologyDanny Mitry
Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, UK
BMC Ophthalmol 9:2. 2009..The aim of this study is to obtain a first estimate incidence of RRD in Scotland, to estimate the incidence of familial RRD and to describe the known associations of RRD within the study population...
Generation Scotland: the Scottish Family Health Study; a new resource for researching genes and heritabilityBlair H Smith
University of Aberdeen, Department of General Practice and Primary Care, Foresterhill Health Centre, Westburn Road, Aberdeen, UK
BMC Med Genet 7:74. 2006....- A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine levelCristian Pattaro
Institute of Genetic Medicine, European Academy Bozen Bolzano EURAC, Bolzano, Italy
BMC Med Genet 11:41. 2010..A substantial proportion of the inter-individual variability in S CR level is explicable by genetic factors... 
Gene-environment interactions--the BioBank UK studyA F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Pharmacogenomics J 2:75-82. 2002- A 'complexity' of urate transportersAlan F Wright
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Crewe Road, Edinburgh, UK
Kidney Int 78:446-52. 2010.... - A polygenic basis for late-onset diseaseAlan Wright
MRC Human Genetics Unit, Western General Hospital, Crewe Road, EH4 2XU, Edinburgh, UK
Trends Genet 19:97-106. 2003..The origin and nature of this variation suggests that current strategies are poorly suited to identifying genes involved in many complex diseases... - Photoreceptor degeneration: genetic and mechanistic dissection of a complex traitAlan F Wright
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh EH4 2XU, UK
Nat Rev Genet 11:273-84. 2010..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise... - Lifespan and mitochondrial control of neurodegenerationAlan F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Nat Genet 36:1153-8. 2004..This provides a new and unifying framework for investigating neurodegenerative disorders... - Genomics of common diseases: approaching the tipping pointAlan F Wright
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh EH4 2XU, UK
Genome Med 3:70. 2011..A report on the Wellcome Trust Scientific Conference 'The Genomics of Common Diseases 2011', held at the Wellcome Trust Conference Centre, Hinxton, Cambridge, UK, 30 August to 2 September 2011... - Do organellar genomes function as long-term redox damage sensors?Alan F Wright
Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh EH4 2XU, UK
Trends Genet 25:253-61. 2009..Organellar proteomes therefore provide cumulative feedback on bioenergetic and genomic status within cell lineages, selection of the energetically 'fittest' cells and a means of removing cells that compromise survival of the organism... - Focus on Molecules: RPGRAlan F Wright
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Exp Eye Res 85:1-2. 2007 - Population choice in mapping genes for complex diseasesA F Wright
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, UK
Nat Genet 23:397-404. 1999..We argue that the choice of study population is a critical factor when designing a study, and that genetically simplified isolates are more useful than diverse continental populations under most assumptions... - Neurogenetics II: complex disordersA F Wright
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
J Neurol Neurosurg Psychiatry 76:623-31. 2005..These approaches will be illustrated in the context of Alzheimer disease, Parkinson disease and synucleinopathies, tauopathies, amyotrophic lateral sclerosis and stroke... - Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degenerationXinhua Shu
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Adv Exp Med Biol 572:41-8. 2006 - Genetic comparison of a Croatian isolate and CEPH European foundersPau Navarro
Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
Genet Epidemiol 34:140-5. 2010.... - Characterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degenerationXinhua Shu
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom
PLoS ONE 6:e27433. 2011..This result contrasts with another C1qtnf5 Ser163Arg knock-in mouse which showed most of the features of L-ORMD but differed in genetic background and targeting construct... - A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognitionSarah E Harris
Department of Psychology, University of Edinburgh, Edinburgh, UK
BMC Genet 8:43. 2007..Non-pathological cognitive ageing is a distressing condition affecting an increasing number of people in our 'ageing society'. Oxidative stress is hypothesised to have a major role in cellular ageing, including brain ageing... - Effects of genome-wide heterozygosity on a range of biomedically relevant human quantitative traitsHarry Campbell
Department of Public Health Sciences, University of Edinburgh, Edinburgh, UK
Hum Mol Genet 16:233-41. 2007..Other traits, such as age at menarche, IQ and lifespan, which have been changing during the decades of urbanization, may also have been influenced by demographic factors... - Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5Xinhua Shu
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Hum Mol Genet 15:1680-9. 2006..These data suggest that L-ORMD is due to insufficient levels of secreted C1QTNF5, compromised RPE cell function resulting from ER retention of the mutant protein or both mechanisms... - Uncovering networks from genome-wide association studies via circular genomic permutationClaudia P Cabrera
MRC Human Genetics Unit, Medical Research Council, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland, United Kingdom
G3 (Bethesda) 2:1067-75. 2012..05, whereas applying circular genomic permutation reduces the number of significant results to a more credible 40% of that value. The circular permutation software ("genomicper") is available as an R package at http://cran.r-project.org/... - Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic dataOzren Polasek
Public Health Sciences, University of Edinburgh, Edinburgh, UK
BMC Genomics 11:139. 2010..0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers... - SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and goutVeronique Vitart
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Nat Genet 40:437-42. 2008..SLC2A9 is a known fructose transporter, and we now show that it has strong uric acid transport activity in Xenopus laevis oocytes... - Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degenerationDafni Vlachantoni
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, UK
Hum Mol Genet 20:322-35. 2011.... - Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationCaroline Hayward
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Hum Mol Genet 12:2657-67. 2003..These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane... - Genome-wide analysis of epistasis in body mass index using multiple human populationsWen Hua Wei
MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, UK
Eur J Hum Genet 20:857-62. 2012..We conclude that genome-wide analysis of epistasis in multiple populations is an effective approach to provide new insights into the genetic regulation of BMI but requires additional efforts to confirm the findings... - Bayesian methods for instrumental variable analysis with genetic instruments ('Mendelian randomization'): example with urate transporter SLC2A9 as an instrumental variable for effect of urate levels on metabolic syndromePaul M McKeigue
Public Health Sciences Section, Division of Community Health Sciences, University of Edinburgh Medical School, Edinburgh, UK
Int J Epidemiol 39:907-18. 2010.... - Population-based estimate of the sibling recurrence risk ratio for rhegmatogenous retinal detachmentDanny Mitry
Department of Public Health Sciences, University of Edinburgh, TeviotPlace, Edinburgh, UK
Invest Ophthalmol Vis Sci 52:2551-5. 2011..The influence of genetic predisposition on nonsyndromic primary rhegmatogenous retinal detachment (RRD) is poorly characterized. The purpose of this study was to investigate the magnitude of genetic risk for RRD... - Strategy for mapping quantitative trait loci (QTL) by using human metapopulationsIgor Rudan
Department of Public Health Sciences, Faculty of Medicine, University of Edinburgh, Edinburgh, Scotland, UK
Croat Med J 47:532-42. 2006..In such cases, the distribution of QT measurements in an (affected) isolate is expected to deviate from that observed in neighboring isolates... - Copy number variation across European populationsWanting Chen
Medical Genetics Section, Centre for Molecular Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh, United Kingdom
PLoS ONE 6:e23087. 2011.... - Characterisation of genome-wide association epistasis signals for serum uric acid in human population isolatesWenhua Wei
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, United Kingdom
PLoS ONE 6:e23836. 2011..We conclude that GWA epistasis analysis is useful despite relatively low power in small isolated populations... - Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processesXinhua Shu
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Crewe Road, Edinburgh, UK
Hum Mol Genet 19:657-70. 2010..ZFRPGR2 is therefore necessary both for the normal differentiation and lamination of the retina and to prevent apoptotic retinal cell death, which may relate to its proposed role in dynein-based retrograde transport processes... - Increased level of linkage disequilibrium in rural compared with urban communities: a factor to consider in association-study designVeronique Vitart
Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Am J Hum Genet 76:763-72. 2005..Similar rural-urban contrasts are likely to exist in many other populations with stable rural subpopulations, which could influence the design of genetic association studies and national biobank data collections... - A microdeletion in Xp11.3 accounts for co-segregation of retinitis pigmentosa and mental retardation in a large kindredLilei Zhang
Predoctoral Training Program in Human Genetics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, MD, USA, and MRC Human Genetics Unit, Western General Hospital, Edinburgh, Scotland, UK
Am J Med Genet A 140:349-57. 2006.... - The role of RPGR in cilia formation and actin stabilityMilica Gakovic
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh EH4 2XU, UK
Hum Mol Genet 20:4840-50. 2011.... - The human retinitis pigmentosa GTPase regulator gene variant databaseXinhua Shu
MRC Human Genetics Unit, Edinburgh, United Kingdom
Hum Mutat 29:605-8. 2008..The database is available on the Internet (http://rpgr.hgu.mrc.ac.uk)... - Mutations of RPGR in X-linked retinitis pigmentosa (RP3)Raf Vervoort
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Hum Mutat 19:486-500. 2002..Most RPGR mutations are unique to single families, which makes it difficult to demonstrate phenotype-genotype correlations... - RPGR mutation analysis and disease: an updateXinhua Shu
Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom
Hum Mutat 28:322-8. 2007..RPGR forms complexes with a variety of other proteins and appears to have a role in microtubular organization and transport between photoreceptor inner and outer segments... - Recent insights into the pathogenesis of hyperuricaemia and goutPhilip L Riches
Rheumatic Diseases Unit, University of Edinburgh, Edinburgh EH4 2XU, UK
Hum Mol Genet 18:R177-84. 2009.... - Developmental and tissue expression of Xenopus laevis RPGRXinhua Shu
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Invest Ophthalmol Vis Sci 47:348-56. 2006..The present study examined the developmental and tissue expression of the retinitis pigmentosa GTPase regulator (RPGR) gene in Xenopus laevis... - Estimating human inbreeding coefficients: comparison of genealogical and marker heterozygosity approachesA D Carothers
MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK
Ann Hum Genet 70:666-76. 2006..This method could provide useful estimates of average F-values for groups of individuals in population-based studies of the effects of inbreeding/homozygosity on quantitative traits... - Myosin diversity and diseaseA F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Trends Genet 12:206-9. 1996 - The brain-derived neurotrophic factor Val66Met polymorphism is associated with age-related change in reasoning skillsS E Harris
Department of Psychology, University of Edinburgh, Edinburgh, UK
Mol Psychiatry 11:505-13. 2006..This study indicates that BDNF genotype contributes to age-related changes in reasoning skills, which are closely related to general intelligence... - Complex genetic diseases: controversy over the Croesus codeA F Wright
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Genome Biol 2:COMMENT2007. 2001.... - Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerationsA Tenesa
Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh, UK
Hum Mol Genet 13:25-33. 2004..Owing to the high sampling variance of LD, we recommend the use of at least 200 unrelated individuals when characterizing the extent of LD... - Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adultsJennifer E Huffman
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
Hum Mol Genet 20:5000-11. 2011..SLC9A9 encodes a proton pump which affects pH in the endosomal compartment and it was recently reported that changes in Golgi pH can impair protein sialylation, giving a possible mechanism for the observed association... - The epidemiology and socioeconomic associations of retinal detachment in Scotland: a two-year prospective population-based studyDanny Mitry
Princess Alexandra Eye Pavilion, Edinburgh, Scotland, UK
Invest Ophthalmol Vis Sci 51:4963-8. 2010..Population-based data on primary RRD incidence has been variable, with large differences reported. This study is the first large-scale prospective examination of the incidence of primary RRD in the United Kingdom... - Searching for genetic influences on normal cognitive ageingIan J Deary
Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh, EH8 9JZ, UK
Trends Cogn Sci 8:178-84. 2004..However, current progress in genetic knowledge, technology and informatics will contribute to progress in this important area... - Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Hum Mutat 24:439. 2004.... - Identification of a novel protein interacting with RPGRJ P Boylan
MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU, UK
Hum Mol Genet 9:2085-93. 2000..The function of RPGRIP is unknown; it shows no homology to proteins of known function, although it is predicted to form two coiled-coil domains at the N-terminus. RPGRIP is a strong candidate gene for causing human retinal degeneration... - Human population structure, genome autozygosity and human healthHarry Campbell
Centre for Population Health Sciences, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, UK
Genome Med 1:91. 2009..The overall outcome is expected to be beneficial for a range of traits associated with human health and disease that show dominance variance... - Complement factor D in age-related macular degenerationChloe M Stanton
MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, Edinburgh, United Kingdom
Invest Ophthalmol Vis Sci 52:8828-34. 2011..To examine the role of complement factor D (CFD) in age-related macular degeneration (AMD) by analysis of genetic association, copy number variation, and plasma CFD concentrations... - Strategies for mapping susceptibility genes in age-related maculopathyA F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Eye 15:401-6. 2001..Strategies for increasing the odds of success in such an endeavour are discussed... - Lack of association between polymorphisms in angiotensin-converting-enzyme and methylenetetrahydrofolate reductase genes and normal cognitive ageing in humansPeter M Visscher
Institute of Cell, Animal and Population Biology, University of Edinburgh, Edinburgh, UK
Neurosci Lett 347:175-8. 2003..02), which could indicate that this gene is under selection. Polymorphisms at the two studied genes are unlikely to be risk factors for normal cognitive ageing... - Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)K L Dry
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Hum Mutat 13:141-5. 1999..Identification of the causative mutation in this family has facilitated the detection of females at risk of having an affected son... - Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosaR Vervoort
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Nat Genet 25:462-6. 2000..Our results suggest that mutations in RPGR are the only cause of RP3 type XLRP and account for the disease in over 70% of XLRP patients and an estimated 11% of all retinitis pigmentosa patients... - RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosminX Shu
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Hum Mol Genet 14:1183-97. 2005..RPGR and RPGRIP1 join a growing number of centrosomal proteins involved in human disease... - Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21E A Bruford
MRC Human Genetics Unit, Western General Hospital Trust, Edinburgh, United Kingdom
Genomics 41:93-9. 1997..C. Sheffield et al. (1994, Hum. Mol. Genet. 3, 1331-1335), or on chromosome 2 or 17, arguing against the involvement of a BBS locus in a patient with a t(2;17) translocation... - The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degenerationAnn H Milam
Scheie Eye Institute and F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 99:473-8. 2002..Degeneration of the NR2E3 retina may result from defective development, known S cone fragility, or abnormal maintenance of mature photoreceptors... - Cognitive change and the APOE epsilon 4 alleleIan J Deary
Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
Nature 418:932. 2002..This effect of the APOE epsilon 4 allele on normal cognitive ageing may be mediated by a mechanism that is at least partly independent of its predisposing effect towards Alzheimer's disease... - Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degenerationQi Zhang
A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
Hum Mol Genet 11:993-1003. 2002..The cellular and molecular results in the two canine RPGR exon ORF15 mutations have implications for understanding the phenotypic variability found in human RP3 families that carry similar mutations... - A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosaDebra K Breuer
Department of Human Genetics, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Am J Hum Genet 70:1545-54. 2002..We also discuss the implications of our studies for genetic diagnosis, genotype-phenotype correlations, and gene-based therapy... - RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteinsHemant Khanna
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
J Biol Chem 280:33580-7. 2005..Taken together, these results provide novel evidence for the possible involvement of RPGR-ORF15 in microtubule organization and regulation of transport in primary cilia... - Apolipoprotein e gene variability and cognitive functions at age 79: a follow-up of the Scottish mental survey of 1932Ian J Deary
Department of Psychology, University of Edinburgh, Edinburgh, Scotland
Psychol Aging 19:367-71. 2004..Neither nonverbal reasoning nor verbal fluency were affected. In this sample, APOE genotype contributed to verbal memory in old age... - Genetic influences on oxidative stress and their association with normal cognitive ageingSwati J Kachiwala
Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
Neurosci Lett 386:116-20. 2005..An interaction between PRNP and klotho (KL) genotypes was also identified (p=0.015), highlighting the importance of analysing gene interactions when investigating associations with quantitative traits... - KLOTHO genotype and cognitive ability in childhood and old age in the same individualsIan J Deary
Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
Neurosci Lett 378:22-7. 2005..Variation in the KLOTHO gene is a possible contributor to life-long reasoning differences in humans and/or to the ageing of non-verbal reasoning, especially in women... - Complement C3 variant and the risk of age-related macular degenerationJohn R W Yates
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
N Engl J Med 357:553-61. 2007..Age-related macular degeneration is the most common cause of blindness in Western populations. Susceptibility is influenced by age and by genetic and environmental factors. Complement activation is implicated in the pathogenesis... - Mortality in patients with Klinefelter syndrome in Britain: a cohort studyAnthony J Swerdlow
Section of Epidemiology, Brookes Lawley Building, Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
J Clin Endocrinol Metab 90:6516-22. 2005..There is limited information about long-term mortality in this syndrome because there have been no large cohort studies... - Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) familiesChristina F Chakarova
Institute of Ophthalmology, University College London, London, UK
Mol Vis 12:909-14. 2006..To identify the disease-causing mutations in two large Bulgarian Romani (Gypsy) pedigrees: one with autosomal dominant retinitis pigmentosa (adRP) with partial penetrance and the other with severe X-linked RP (xlRP)... - The functional COMT polymorphism, Val 158 Met, is associated with logical memory and the personality trait intellect/imagination in a cohort of healthy 79 year oldsSarah E Harris
Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK
Neurosci Lett 385:1-6. 2005..Therefore, COMT genotype may contribute to differences in normal cognitive aging and to differences in some of the major personality traits in old age... - Long anterior lens zonules in late-onset retinal degeneration (L-ORD)Visvaraja Subrayan
Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh EH3 9HA, Scotland, UK
Am J Ophthalmol 140:1127-9. 2005..We report new findings of peripupillary iris atrophy and long anteriorly-inserted zonules in a family with late-onset retinal degeneration (L-ORD)... - Mortality and cancer incidence in women with extra X chromosomes: a cohort study in BritainAnthony J Swerdlow
Section of Epidemiology, Institute of Cancer Research, Sutton, SM2 5NG, UK
Hum Genet 118:255-60. 2005.... - Mortality risks in patients with constitutional autosomal chromosome deletions in Britain: a cohort studyAnthony J Swerdlow
Section of Epidemiology, Sir Richard Doll Building, Institute of Cancer Research, Sutton, Surrey, SM2 5NG, UK
Hum Genet 123:215-24. 2008.... - Cancer incidence in women with Turner syndrome in Great Britain: a national cohort studyMinouk J Schoemaker
Section of Epidemiology, Institute of Cancer Research, Sutton, UK
Lancet Oncol 9:239-46. 2008..Cancer risks in women with Turner syndrome have not been clearly established. We aimed to compare the risk of cancer in women with this syndrome with that of the general population... - Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degenerationSamuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
Hum Mol Genet 13:1893-902. 2004..The later-stage dysplastic appearance suggests a previously unrecognized proliferative response in human retinal degeneration... - Cancer incidence and mortality in men with Klinefelter syndrome: a cohort studyAnthony J Swerdlow
Institute of Cancer Research, Sutton, Surrey SM2 5NG, United Kingdom
J Natl Cancer Inst 97:1204-10. 2005..Case reports have led to suggestions that men with Klinefelter syndrome have elevated risks of several cancers, but published cohort studies have been relatively small. We conducted a nationwide cohort study to examine these risks... - Contribution of consanguinuity to polygenic and multifactorial diseasesIgor Rudan
Nat Genet 38:1224-5. 2006 - RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile ciliaDong Hyun Hong
Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Boston, Massachusetts 02114, USA
Invest Ophthalmol Vis Sci 44:2413-21. 2003..There is as yet no consensus concerning the subcellular localization of RPGR. This study was undertaken as a comprehensive effort to resolve current controversies... - Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3Artur V Cideciyan
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Invest Ophthalmol Vis Sci 44:1268-74. 2003..To determine the relationship between cone deactivation kinetics in patients with the enhanced S cone syndrome (ESCS) caused by mutations in NR2E3 and the immunoreactivity to G-protein-coupled receptor kinase 1 (GRK1) and GRK7... - Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn
Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
Am J Hum Genet 72:429-37. 2003..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance... - The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 geneRuth Riise
Department of Ophthalmology, Central Hospital of Hedmark, 2326 Hamar, Norway
Arch Ophthalmol 120:1364-7. 2002..To describe the phenotype of the Bardet-Biedl syndrome in patients with mutations in the BBS4 gene... - Mortality and cancer incidence in males with Y polysomy in Britain: a cohort studyCraig D Higgins
Section of Epidemiology, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK
Hum Genet 121:691-6. 2007..Further investigations are required to confirm these findings and to elucidate the possible role of genes on the Y chromosome in the aetiology of these causes of death...