Výsledky vyhledávání - "Anne E, Hughes"

Akademický článek

Susceptibility to invasive meningococcal disease: polymorphism of complement system genes and Neisseria meningitidis factor H binding protein.

Autor: Declan T Bradley, Thomas W Bourke, Derek J Fairley, Raymond Borrow, Michael D Shields, Peter F Zipfel, Anne E Hughes

Publikováno v: PLoS ONE, Vol 10, Iss 3, p e0120757 (2015)

Neisseria meningitidis can cause severe infection in humans. Polymorphism of Complement Factor H (CFH) is associated with altered risk of invasive meningococcal disease (IMD). We aimed to find whether polymorphism of other complement genes altered ri

Externí odkaz: https://doaj.org/article/a132c76cb3814764850efb788597a855

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Akademický článek

Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.

Autor: Anne E Hughes, Nick Orr, Chris Patterson, Hossein Esfandiary, Ruth Hogg, Vivienne McConnell, Giuliana Silvestri, Usha Chakravarthy

Publikováno v: PLoS Medicine, Vol 4, Iss 12, p e355 (2007)

BackgroundAge-related macular degeneration (AMD) is the major cause of blindness in the elderly. Those with the neovascular end-stage of disease have irreversible loss of central vision. AMD is a complex disorder in which genetic and environmental fa

Externí odkaz: https://doaj.org/article/c37a638b67d04842aeb0062674c372c4

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Akademický článek

Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.

Autor: Peter F Zipfel, Matthew Edey, Stefan Heinen, Mihály Józsi, Heiko Richter, Joachim Misselwitz, Bernd Hoppe, Danny Routledge, Lisa Strain, Anne E Hughes, Judith A Goodship, Christoph Licht, Timothy H J Goodship, Christine Skerka

Publikováno v: PLoS Genetics, Vol 3, Iss 3, p e41 (2007)

Atypical hemolytic uremic syndrome (aHUS) is associated with defective complement regulation. Disease-associated mutations have been described in the genes encoding the complement regulators complement factor H, membrane cofactor protein, factor B, a

Externí odkaz: https://doaj.org/article/5dbab60a997e4d30ae0bf040891b6ada

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Sequence and expression of complement factor H gene cluster variants and their roles in age-related macular degeneration risk

Autor: Weihua Meng, Declan Bradley, Dwight Stambolian, Mingyao Li, Christine A. Curcio, Anne E. Hughes, Stephen Bridgett

Publikováno v: Hughes, A E, Bridgett, S, Meng, W, Li, M, Curcio, C A, Stambolian, D & Bradley, D T 2016, ' Sequence and expression of complement factor H gene cluster variants and their roles in age-related macular degeneration risk ', Investigative Ophthalmology and Visual Science, vol. 57, no. 6, pp. 2763-2769 . https://doi.org/10.1167/iovs.15-18744
Investigative Ophthalmology & Visual Science

Purpose: To investigate how potentially functional genetic variants are coinherited on each of four common complement factor H (CFH) and CFH-related gene haplotypes and to measure expression of these genes in eye and liver tissues.Methods: We sequenc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c3b7681322c91ba559cd18028193dc
https://pure.qub.ac.uk/en/publications/sequence-and-expression-of-complement-factor-h-gene-cluster-variants-and-their-roles-in-agerelated-macular-degeneration-risk(83356758-1280-4a78-90e3-fb43285c72f0).html

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Genetic susceptibility to invasive meningococcal disease: MBL2 structural polymorphisms revisited in a large case-control study and a systematic review

Autor: Derek Fairley, Declan Bradley, Peter F. Zipfel, Thomas Bourke, Ian S. Young, Ray Borrow, Anne E. Hughes, Michael D. Shields

Publikováno v: International Journal of Immunogenetics. 39:328-337

Invasive infection caused by Neisseria meningitidis is a worldwide public health problem. Previous reports have indicated that carriage of common 'defective' structural polymorphisms of the host mannose-binding lectin gene (MBL2) greatly increases an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::36847c06ded5418681112063ed15d802
https://doi.org/10.1111/j.1744-313x.2012.01095.x

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Complement in age-related macular degeneration: a focus on function

Autor: Anne E. Hughes, Declan Bradley, Peter F. Zipfel

Publikováno v: Eye. 25:683-693

Age-related macular degeneration (AMD) is an inflammatory disease, which causes visual impairment and blindness in older people. The proteins of the complement system are central to the development of this disease. Local and systemic inflammation in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0efb1eb4fd87f736cb7da1b419a7a728
https://doi.org/10.1038/eye.2011.37

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Coding polymorphisms in the genes of the alternative complement pathway and abdominal aortic aneurysm

Autor: Rob D. Sayers, Stephen A. Badger, Matthew J. Bown, Anne E. Hughes, Declan Bradley

Publikováno v: International Journal of Immunogenetics. 38:243-248

Summary Variants in the genes of the alternative complement pathway are associated with risk of numerous inflammatory diseases. Abdominal aortic aneurysm is associated with inflammation and is a common cause of illness and death among European popula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1e9ec909bf2b83fdbe88afe34366c3ec
https://doi.org/10.1111/j.1744-313x.2011.01002.x

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Chromosome 9p21.3 is Associated with Early-Onset Coronary Heart Disease in the Irish Population

Autor: Frank Kee, Christine Belton, Christopher Patterson, Anne E. Hughes, Pascal P. McKeown, Weihua Meng

Publikováno v: Disease Markers, Vol 25, Iss 2, Pp 81-85 (2008)
Disease markers

Coronary heart disease (CHD) remains a leading cause of death across the world. A region on chromosome 9p21.3 has been recently reported to be associated with CHD. We evaluated 3 SNPs and 3 common haplotypes in the 9p21.3 region in 1494 individuals f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146d55af4647ad2166974e93c070dcd1
https://doaj.org/article/cd9bbabc1644446fb1ffdf66cf3a5d7b

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