Zobrazeno 1 - 10
of 47
pro vyhledávání: '"J. J. Pointon"'
Autor:
B. Paul Wordsworth, Philip Robinson, Mariapia A. Degli-Esposti, Nigil Haroon, Denis Wakefield, J J Pointon, Irene E. van der Horst-Bruinsma, Jessica Harris, Linda A. Bradbury, Lyndell L Lim, Matthew A. Brown, Proton Rahman, Alex W. Hewitt, David M. Evans, Lianne S. Gensler, Peter McCluskey, Walter P. Maksymowych, Peter Fleming, Jamie E Craig, Katie Cremin, Pamela Mukhopadhyay, Adrian Cortes, Michael H. Weisman, Joseph E. Powell, Robert D. Inman, John D. Reveille, Tammy M. Martin, Valentina Voigt, James T. Rosenbaum, Theodora A. M. Claushuis, Paul Leo
Publikováno v:
Arthritis & Rheumatology. 67:140-151
Free to read Objective To use high-density genotyping to investigate the genetic associations of acute anterior uveitis (AAU) in patients with and those without ankylosing spondylitis (AS). Methods We genotyped samples from 1,711 patients with AAU (e
Autor:
B. Paul Wordsworth, James T. Triffitt, Matthew A. Brown, J J Pointon, R. Graham G. Russell, Alex N. Bullock, Wen Hwa Lee, Roger Smith, K A Petrie
Publikováno v:
PLoS ONE
PLoS ONE, Vol 4, Iss 3, p e5005 (2009)
PLoS ONE, Vol 4, Iss 3, p e5005 (2009)
Fibrodysplasia Ossificans Progressiva (FOP) is a rare, heritable condition typified by progression of extensive ossification within skeletal muscle, ligament and tendon together with defects in skeletal development. The condition is easily diagnosed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce531d9d0118358e3915b4f8be705b4
https://ora.ox.ac.uk/objects/uuid:d470a3e8-da04-4b28-9ed1-258ca0772f35
https://ora.ox.ac.uk/objects/uuid:d470a3e8-da04-4b28-9ed1-258ca0772f35
Publikováno v:
Rheumatology (Oxford, England)
Sir, The strong genetic association between AS and HLA-B27 has defied explanation for nearly 40 years. However, the additional discovery of a strong association between AS and ERAP1 (endoplasmic reticulum aminopeptidase 1), a gene that almost certain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c52f748bd7a19fbbbc82a155b42dce3
https://doi.org/10.1093/rheumatology/ker199
https://doi.org/10.1093/rheumatology/ker199
Autor:
David Harvey, B P Wordsworth, J J Pointon, Millicent A. Stone, David M. Evans, Roger D. Sturrock, Tugce Karaderi, Louise Appleton, Udo Oppermann, C. Farrar, Matthew A. Brown
Publikováno v:
Human Molecular Genetics
A strong association between ERAP1 and ankylosing spondylitis (AS) was recently identified by the Wellcome Trust Case Control Consortium and the Australo-Anglo-American Spondylitis Consortium (WTCCC-TASC) study. ERAP1 is highly polymorphic with stron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc2fcbd92433e888c0e352a575c23bef
https://doi.org/10.1093/hmg/ddp371
https://doi.org/10.1093/hmg/ddp371
Associations with disease identified by genome-wide association studies (GWAS) must be replicated and refined to validate causative variants. In the Wellcome Trust Case Control Consortium (WTCCC) GWAS using 14 500 non-synonymous single nucleotide pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8788583918c67507dde5bf5ed327102c
https://doi.org/10.1038/gene.2011.23
https://doi.org/10.1038/gene.2011.23
Autor:
Andrew A. Harrison, Paul Wordsworth, Katie Cremin, Simon Stebbings, Philip Robinson, Jessica Harris, Linda A. Bradbury, Emma L. Duncan, Paul Leo, J J Pointon, Matthew A. Brown, David M. Evans, Dna, Genotyping, Data Qc
Publikováno v:
NPJ Genomic Medicine
Ankylosing spondylitis (AS) is a common chronic immune-mediated arthropathy affecting primarily the spine and pelvis. The condition is strongly associated with HLA-B*27 as well as other human leukocyte antigen variants and at least 47 individual non-
Autor:
Pille Harrison, L Southam, B P Wordsworth, Afsie Sabokbar, R Locklin, J J Pointon, Kay Chapman
Publikováno v:
Scandinavian Journal of Rheumatology. 41:249-252
OBJECTIVES: To assess whether there are cis-regulatory polymorphisms that regulate protein tyrosine phosphatase, non-receptor type 22 (PTPN22) expression in rheumatoid arthritis (RA). METHODS: RNA was extracted from positively selected CD56+, CD8+, a
Autor:
Louise Appleton, David Harvey, Millicent A. Stone, Tugce Karaderi, C. Farrar, Paul Wordsworth, Matthew A. Brown, Roger D. Sturrock, J J Pointon
Publikováno v:
Rheumatology. 48:386-389
OBJECTIVES: It has been shown previously that IL-23R variants are associated with AS. We conducted an extended analysis in the UK population and a meta-analysis with the previously published studies, in order to refine these IL-23R associations with
Autor:
I. Herzberg, M. Barnardo, J J Pointon, Matthew A. Brown, Jaakko Tuomilehto, E. Jaakkola, B P Wordsworth, K. Kaarela, Markku J Kauppi, Kari Laiho, E. Tuomilehto-Wolf
Publikováno v:
Annals of the Rheumatic Diseases. 65:775-780
Objective: To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population. Methods: 673 individuals from 261 families with ankylosing spondylitis were