Research Topics
Genomes and Genes
| A E HughesSummaryAffiliation: Queen's University Belfast Country: UK Publications
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Detail Information
Publications
A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophyAnne E Hughes
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Royal Victoria Hospital, Belfast, UK
Invest Ophthalmol Vis Sci 53:4748-53. 2012..To identify the genetic cause of central areolar choroidal dystrophy (CACD) in a large Northern Irish family...
Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish populationWeihua Meng
Centre for Clinical and Population Sciences, Queen s University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, BT12 6BJ, Northern Ireland, UK
BMC Med Genet 8:62. 2007..This study was designed to investigate if, using a family-based approach, there was an association between genetic variants of the CFH gene and risk of early-onset coronary heart disease...
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genesAnne E Hughes
Department of Medical Genetics, Queen s University, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland, U K
Invest Ophthalmol Vis Sci 44:5063-6. 2003..Uniquely, in this family both disorders were present and fully penetrant in those affected...- Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smokingAnne E Hughes
Department of Medical Genetics, Queen s University Belfast, Belfast, United Kingdom
PLoS Med 4:e355. 2007..Polymorphisms in the complement factor H (CFH) gene, LOC387715, and the HTRA1 promoter are strongly associated with AMD. Smoking also contributes to the etiology. We aimed to provide a model of disease risk based on these factors... - Complement factor B polymorphism 32W protects against age-related macular degenerationAnne E Hughes
Centre for Public Health, Queen s University Belfast, UK
Mol Vis 17:983-8. 2011..This is thought to be the reason that the 32Q variant is associated with decreased risk of age-related macular degeneration (AMD). We investigated whether the 32W variant was also associated with decreased risk of AMD... - Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysisA E Hughes
Department of Medical Genetics, The Queen s University of Belfast, Belfast, UK
Nat Genet 24:45-8. 2000..Both mutations caused an increase in RANK-mediated nuclear factor-kappaB (NF-kappaB) signalling in vitro, consistent with the presence of an activating mutation... - A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degenerationAnne E Hughes
Department of Medical Genetics, Queen s University, Belfast, Belfast BT12 6BL, UK
Nat Genet 38:1173-7. 2006..The protective effect of the deletion haplotype cannot be attributed to linkage disequilibrium with Y402H and was replicated in an independent sample... - Mutation altering the miR-184 seed region causes familial keratoconus with cataractAnne E Hughes
Centre for Public Health, The Queen s University of Belfast, Royal Victoria Hospital, Grosvenor Road, Belfast BT12 6BN, Northern Ireland, UK
Am J Hum Genet 89:628-33. 2011..Awareness of the important function of miRNAs could aid identification of susceptibility genes and new therapeutic targets for treatment of both rare and common diseases... - Localisation of a gene for central areolar choroidal dystrophy to chromosome 17pA J Lotery
Department of Medical Genetics, Queen s University of Belfast, Northern Ireland, UK
Hum Mol Genet 5:705-8. 1996..Analysis of the coding region of the PITPN gene failed to reveal any mutation in this family... - Genetic susceptibility to invasive meningococcal disease: MBL2 structural polymorphisms revisited in a large case-control study and a systematic reviewD T Bradley
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Belfast, UK
Int J Immunogenet 39:328-37. 2012..13 and 0.04) that indicate systematic problems with the studies. The data from our study and all other available evidence indicate that MBL2 structural polymorphisms do not predispose children or adults to invasive meningococcal disease... - Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratodermaD K Armstrong
Department of Medical Genetics, The Queen s University of Belfast, Belfast City Hospital, Belfast BT9 7AB, UK
Hum Mol Genet 8:143-8. 1999..It identifies dosage of desmoplakin as critical in maintaining epidermal integrity... - Association study of detoxification genes in age related macular degenerationH Esfandiary
Centre for Vision Sciences, Queen s University Belfast, Belfast BT12 6BA, UK
Br J Ophthalmol 89:470-4. 2005..The choice of genes was based on their function in the breakdown of industrial pollutants, cigarette smoke, defence against oxidative stress, or involvement in the general ageing process... - Mutational screening of VSX1 in keratoconus patients from the European populationD P Dash
Centre for Vision and Vascular Science, Queen s University Belfast, and Department of Ophthalmology, Royal Victoria Hospital, Belfast, Northern Ireland, UK
Eye (Lond) 24:1085-92. 2010.... - Genetic linkage of familial expansile osteolysis to chromosome 18qA E Hughes
Department of Medical Genetics, Queen s University of Belfast, UK
Hum Mol Genet 3:359-61. 1994..1-q22. Mapping a new locus for a gene involved in regulation of bone metabolism may also have implications in the study of Paget's disease of bone which is a common related bone dysplasia... - Evidence for a second genetic locus in Carney complexA D Irvine
Department of Medical Genetics, Queen s University Belfast, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, U K
Br J Dermatol 139:572-6. 1998..Negative logarithm of the odds scores were obtained for all markers at all recombination fractions. We conclude that Carney complex is genetically as well as clinically heterogeneous... - Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysisDurga Prasad Dash
Department of Medical Genetics, Queen s University of Belfast, Royal Victoria Hospital, Belfast, United Kingdom
Mol Vis 12:499-505. 2006..To report the fine mapping of the keratoconus with cataract locus on chromosome 15q and the mutational analysis of positional candidate genes... - Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17pA E Hughes
Division of Molecular Medicine, The Queen s University of Belfast, UK
J Med Genet 35:770-2. 1998..We now report the refinement of the critical region for this gene to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03... - A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-MearaA D Irvine
Department of Medical Genetics, The Queen s University of Belfast, Northern Ireland, UK
J Invest Dermatol 109:815-6. 1997..This mutation adds to those previously reported and provides further evidence of phenotype-genotype correlation in epidermolysis bullosa simplex... - A physical and expression map of the D17S1810-D17S1353 region spanning the central areolar choroidal dystrophy locusA M Lichanska
Department of Medical Genetics, The Queen s University of Belfast, Belfast, Northern Ireland, UK
Cytogenet Cell Genet 93:43-7. 2001..Several of these have been screened, but no disease-causing mutations were found in CACD patients... - A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentationA D Irvine
Department of Medical Genetics, The Queen s University of Belfast, Northern Ireland, United Kingdom
J Invest Dermatol 108:809-10. 1997..We have identified a C --> T transition at base position 71 of K5 causing a P24L substitution in a sporadic case of EBS-MP. Recently, this same mutation was identified in two unrelated families with EBS-MP... - Association of two loci on chromosome 2q with nodal osteoarthritisG D Wright
Department of Rheumatology, Musgrave Park Hospital, Belfast, United Kingdom
Ann Rheum Dis 55:317-9. 1996..To search for genetic association between microsatellite marker loci and sibling pairs with nodal osteoarthritis (NOA)... - Further assessment of the complement component 2 and factor B region associated with age-related macular degenerationGareth J McKay
Centre for Vision Sciences, Queen s University of Belfast, Belfast, Northern Ireland, United Kingdom
Invest Ophthalmol Vis Sci 50:533-9. 2009.... - A population-based association study of SNPs of GSTP1, MnSOD, GPX2 and Barrett's esophagus and esophageal adenocarcinomaSeamus J Murphy
Department of Medical Genetics, Queen s University Belfast, Royal Group of Hospitals, Grosvenor Road, Belfast, Ireland
Carcinogenesis 28:1323-8. 2007..SNPs involving the GSTP1, MnSOD and GPX2 genes were not associated with BE or EAC. Further studies aimed at identifying susceptibility genes should focus on different antioxidant genes or different pathways... - A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1A E Hughes
Department of Medical Genetics, Belfast City Hospital, UK
Nat Genet 7:509-12. 1994..05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4... - Localisation of a gene for chondrocalcinosis to chromosome 5pA E Hughes
Department of Medical Genetics, Queen s University of Belfast, UK
Hum Mol Genet 4:1225-8. 1995..6 between D5S810 and D5S416. Mapping a locus for chondrocalcinosis will allow the heterogeneity of the disorder to be assessed and may also be relevant to understanding the aetiology of osteoarthritis with which it commonly associates... - Retinal vein occlusion, homocysteine, and methylene tetrahydrofolate reductase genotypeStuart J McGimpsey
Department of Ophthalmology, Royal Group of Hospitals, Belfast, Ireland, United Kingdom
Invest Ophthalmol Vis Sci 46:4712-6. 2005..The aim of this case-control study was to investigate the relationship between homocysteine (tHcy), 5,10 methylene tetrahydrofolate reductase (MTHFR) C677T genotype, folate and vitamin B12 status, and retinal vein occlusion (RVO)... - C-reactive protein (CRP) elevation in patients with abdominal aortic aneurysm is independent of the most important CRP genetic polymorphismStephen A Badger
Vascular and Endovascular Surgery Department, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom
J Vasc Surg 49:178-84. 2009..C-reactive protein (CRP) is a marker of cardiovascular disease. The objective was to determine if abdominal aortic aneurysm (AAA) and CRP serum concentration and its CRP gene are associated... - Complement in age-related macular degeneration: a focus on functionD T Bradley
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen s University Belfast, Royal Victoria Hospital, Belfast, UK
Eye (Lond) 25:683-93. 2011..We discuss the application of this knowledge to prevention and possible future treatments of AMD... - Coding polymorphisms in the genes of the alternative complement pathway and abdominal aortic aneurysmD T Bradley
Centre for Public Health, Institute of Clinical Sciences, Queen s University Belfast, Royal Victoria Hospital, Grosvenor Road, Belfast, UK
Int J Immunogenet 38:243-8. 2011..This study suggests that variation in the genes of the alternative pathway is not an important cause of abdominal aortic aneurysm development... - Chromosome 9p21.3 is associated with early-onset coronary heart disease in the Irish populationWeihua Meng
Centre for Clinical and Population Sciences, Queen s University Belfast, Institute of Clinical Science, Grosvenor Road, Belfast, Northern Ireland, UK
Dis Markers 25:81-5. 2008..9 x 10(-7)). In conclusion, using a family-based approach in the Irish population, we have confirmed previous reports of association between a region on chromosome 9p21.3 and early-onset CHD... - Cochlear implantation in keratitis-ichthyosis-deafness syndrome: 10-year follow-up of two patientsC M Smyth
Department of Otolaryngology, Belfast City Hospital, UK
Cochlear Implants Int 13:54-9. 2012..Consultation with dermatological colleagues regarding any new therapies may be warranted... - Erythrocytosis due to a mutation in the erythropoietin receptor geneM J Percy
Department of Haematology, The Queen s University of Belfast, Northern Ireland
Br J Haematol 100:407-10. 1998..The mutation (G6002A) has arisen independently in a Finnish family and de novo in this English boy. Patients with unexplained erythrocytosis and low serum Epo levels should be investigated for EpoR mutations... - Lack of MEF2A Delta7aa mutation in Irish families with early onset ischaemic heart disease, a family based studyPaul G Horan
Regional Medical Cardiology Centre, Royal Victoria Hospital, Grosvenor Road, Belfast, BT12 6BA, Northern Ireland, UK
BMC Med Genet 7:65. 2006..We investigated this region of the MEF2A gene using an Irish family-based study, where affected individuals had early-onset IHD... - Lack of support for the presence of an osteoarthritis susceptibility locus on chromosome 6pGary K Meenagh
Department of Rheumatology, Musgrave Park Hospital, Belfast, UK
Arthritis Rheum 52:2040-3. 2005..To replicate, in a Northern Irish population, the previously reported association between a locus on chromosome 6 and hip osteoarthritis (OA)... - Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductaseMelanie J Percy
Department of Haematology, Belfast City Hospital, Northern Ireland
Blood 100:3447-9. 2002..Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified... - Evidence for association of endothelial nitric oxide synthase gene in subjects with glaucoma and a history of migraineJoanne F J Logan
Department of Ophthalmology, The Royal Group of Hospitals, Belfast, N Ireland, United Kingdom
Invest Ophthalmol Vis Sci 46:3221-6. 2005..The candidate genes were the two isoforms of nitric oxide synthase (NOS), NOS3 and -2A, and endothelin (ET)-l. The frequency of the T786C mutation in NOS3 was also examined... - Auditory perception and speech discrimination after cochlear implantation in patients with connexin 26 (GJB2) gene-related deafnessArasa Raj Sinnathuray
Northern Ireland Regional Cochlear Implant Center, Belfast City Hospital, Belfast, United Kingdom
Otol Neurotol 25:930-4. 2004..Auditory perception and speech discrimination among pediatric cochlear implantees may vary because of underlying deafness etiology, including connexin 26 (GJB2) gene-related deafness... - Connexin 26 (GJB2) gene-related deafness and speech intelligibility after cochlear implantationArasa Raj Sinnathuray
Northern Ireland Regional Cochlear Implant Center, Belfast City Hospital, Belfast, UK
Otol Neurotol 25:935-42. 2004..Speech intelligibility in children after cochlear implantation may depend on their deafness cause, including connexin 26 (GJB2) gene-related deafness... - Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysisMichael P Whyte
Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St Louis, Missouri 63131, USA
J Bone Miner Res 17:26-9. 2002..Hence, ESH and FEO are allelic diseases and ESH, like FEO, probably reflects increased activity in the skeleton of the RANK target, nuclear factor-kappaB (NF-kappaB)... - Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutationElahe Elahi
National Institute for Genetic Engineering and Biotechnology, Tehran Karaj Expressway, Km 17 Pajouhesh Boulevard, Tehran, Iran
J Bone Miner Metab 25:159-64. 2007..Although the mutation in the Iranian and four of the previously described FEO pedigrees was the same, haplotypes based on the intragenic SNPs suggest that the mutations do not share a common descent... - Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndromePeter F Zipfel
Leibniz Institute for Natural Product Research and Infection Biology, Hans Knoell Institute, Jena, Germany
PLoS Genet 3:e41. 2007..The identification of CFHR1/CFHR3 deficiency in aHUS patients may lead to the design of new diagnostic approaches, such as enhanced testing for these genes... - Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition diseaseCharlene J Williams
Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
Arthritis Rheum 48:2627-31. 2003..To analyze ANKH in families with calcium pyrophosphate dihydrate crystal deposition disease (CPPD) for disease-causing mutations...