Publications by authors named "Jennifer J Pointon"

16Publications

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.

NPJ Genom Med 2016 4;1:16008. Epub 2016 May 4.

Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital Herston, QLD, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/npjgenmed.2016.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685324PMC
May 2016

Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.

Nat Genet 2011 Jul 10;43(8):761-7. Epub 2011 Jul 10.

Medical Research Council (MRC) Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol, Bristol, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3640413PMC
July 2011

A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.

Blood Cells Mol Dis 2009 Sep-Oct;43(2):194-8. Epub 2009 May 24.

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bcmd.2009.04.007DOI Listing
October 2009

Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.

Rheumatology (Oxford) 2009 Apr 2;48(4):386-9. Epub 2009 Feb 2.

Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Oxford University Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/rheumatology/ken501DOI Listing
April 2009

Toll-like receptor 4 and CD14 polymorphisms in ankylosing spondylitis: evidence of a weak association in Finns.

J Rheumatol 2008 Aug 15;35(8):1609-12. Epub 2008 Jul 15.

NIHR OxfordMusculoskeletal Biomedical Research Unit and BotnarResearch Centre, Oxford, UK.

View Article

Download full-text PDF

Source
August 2008

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

Authors:
Paul R Burton David G Clayton Lon R Cardon Nick Craddock Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem H Ouwehand Nilesh J Samani John A Todd Peter Donnelly Jeffrey C Barrett Dan Davison Doug Easton David M Evans Hin-Tak Leung Jonathan L Marchini Andrew P Morris Chris C A Spencer Martin D Tobin Antony P Attwood James P Boorman Barbara Cant Ursula Everson Judith M Hussey Jennifer D Jolley Alexandra S Knight Kerstin Koch Elizabeth Meech Sarah Nutland Christopher V Prowse Helen E Stevens Niall C Taylor Graham R Walters Neil M Walker Nicholas A Watkins Thilo Winzer Richard W Jones Wendy L McArdle Susan M Ring David P Strachan Marcus Pembrey Gerome Breen David St Clair Sian Caesar Katharine Gordon-Smith Lisa Jones Christine Fraser Elaine K Green Detelina Grozeva Marian L Hamshere Peter A Holmans Ian R Jones George Kirov Valentina Moskivina Ivan Nikolov Michael C O'Donovan Michael J Owen David A Collier Amanda Elkin Anne Farmer Richard Williamson Peter McGuffin Allan H Young I Nicol Ferrier Stephen G Ball Anthony J Balmforth Jennifer H Barrett Timothy D Bishop Mark M Iles Azhar Maqbool Nadira Yuldasheva Alistair S Hall Peter S Braund Richard J Dixon Massimo Mangino Suzanne Stevens John R Thompson Francesca Bredin Mark Tremelling Miles Parkes Hazel Drummond Charles W Lees Elaine R Nimmo Jack Satsangi Sheila A Fisher Alastair Forbes Cathryn M Lewis Clive M Onnie Natalie J Prescott Jeremy Sanderson Christopher G Matthew Jamie Barbour M Khalid Mohiuddin Catherine E Todhunter John C Mansfield Tariq Ahmad Fraser R Cummings Derek P Jewell John Webster Morris J Brown Mark G Lathrop John Connell Anna Dominiczak Carolina A Braga Marcano Beverley Burke Richard Dobson Johannie Gungadoo Kate L Lee Patricia B Munroe Stephen J Newhouse Abiodun Onipinla Chris Wallace Mingzhan Xue Mark Caulfield Martin Farrall Anne Barton Ian N Bruce Hannah Donovan Steve Eyre Paul D Gilbert Samantha L Hilder Anne M Hinks Sally L John Catherine Potter Alan J Silman Deborah P M Symmons Wendy Thomson Jane Worthington David B Dunger Barry Widmer Timothy M Frayling Rachel M Freathy Hana Lango John R B Perry Beverley M Shields Michael N Weedon Andrew T Hattersley Graham A Hitman Mark Walker Kate S Elliott Christopher J Groves Cecilia M Lindgren Nigel W Rayner Nicolas J Timpson Eleftheria Zeggini Melanie Newport Giorgio Sirugo Emily Lyons Fredrik Vannberg Adrian V S Hill Linda A Bradbury Claire Farrar Jennifer J Pointon Paul Wordsworth Matthew A Brown Jayne A Franklyn Joanne M Heward Matthew J Simmonds Stephen C L Gough Sheila Seal Michael R Stratton Nazneen Rahman Maria Ban An Goris Stephen J Sawcer Alastair Compston David Conway Muminatou Jallow Melanie Newport Giorgio Sirugo Kirk A Rockett Suzannah J Bumpstead Amy Chaney Kate Downes Mohammed J R Ghori Rhian Gwilliam Sarah E Hunt Michael Inouye Andrew Keniry Emma King Ralph McGinnis Simon Potter Rathi Ravindrarajah Pamela Whittaker Claire Widden David Withers Niall J Cardin Dan Davison Teresa Ferreira Joanne Pereira-Gale Ingeleif B Hallgrimsdo'ttir Bryan N Howie Zhan Su Yik Ying Teo Damjan Vukcevic David Bentley Matthew A Brown Alastair Compston Martin Farrall Alistair S Hall Andrew T Hattersley Adrian V S Hill Miles Parkes Marcus Pembrey Michael R Stratton Sarah L Mitchell Paul R Newby Oliver J Brand Jackie Carr-Smith Simon H S Pearce R McGinnis A Keniry P Deloukas John D Reveille Xiaodong Zhou Anne-Marie Sims Alison Dowling Jacqueline Taylor Tracy Doan John C Davis Laurie Savage Michael M Ward Thomas L Learch Michael H Weisman Mathew Brown

Nat Genet 2007 Nov 21;39(11):1329-37. Epub 2007 Oct 21.

Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2007.17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680141PMC
November 2007

Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.

Community Genet 2002 ;5(4):262-5

General Practice & Primary Care Research Unit, University of Cambridge, Institute of Public Health, Cambridge, UK.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/66689
Publisher Site
http://dx.doi.org/10.1159/000066689DOI Listing
March 2004

Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload.

Blood Cells Mol Dis 2003 May-Jun;30(3):302-6

MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Headley Way, Headington, Oxford OX3 9DS, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1079-9796(03)00041-xDOI Listing
March 2004