Publications by authors named "Jennifer Pointon"

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Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease.
Philip C Robinson, Paul J Leo, Jennifer J Pointon, Jessica Harris, Katie Cremin

NPJ Genom Med· May 2016

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Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis.
Philip C Robinson, Theodora A M Claushuis, Adrian Cortes, Tammy M Martin, David M Evans, Jennifer J Pointon

Arthritis Rheumatol· January 2015

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A CCR6 variant strongly associated with rheumatoid arthritis in two populations is not associated with ankylosing spondylitis.
Carla J Cohen, Tugce Karaderi, Jennifer J Pointon, B Paul Wordsworth

Rheumatol Int· September 2013

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ERAP1 and ankylosing spondylitis.
Sarah Keidel, Liye Chen, Jennifer Pointon, Paul Wordsworth

Curr Opin Immunol· February 2013

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A common functional variant of endoplasmic reticulum aminopeptidase 2 (ERAP2) that reduces major histocompatibility complex class I expression is not associated with ankylosing spondylitis.
David Harvey, Jennifer J Pointon, Tugce Karaderi, Louise H Appleton, Claire Farrar

Rheumatology (Oxford)· September 2011

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Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
David M Evans, Chris C A Spencer, Jennifer J Pointon, Zhan Su, David Harvey

Nat Genet· July 2011

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Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease.
Patrick Danoy, Karena Pryce, Johanna Hadler, Linda A Bradbury, Claire Farrar, Jennifer Pointon

PLoS Genet· December 2010

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The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD).
Jennifer J Pointon, David Harvey, Tugce Karaderi, Louise H Appleton, Claire Farrar

Ann Rheum Dis· June 2010

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Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Nat Genet· February 2010

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Investigating the genetic association between ERAP1 and ankylosing spondylitis.
David Harvey, Jennifer J Pointon, David M Evans, Tugce Karaderi, Claire Farrar

Hum Mol Genet· November 2009

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A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient.
Jennifer J Pointon, Chun Yu Lok, Jeremy D Shearman, Richard J Suckling, Jacques Rochette

Blood Cells Mol Dis· October 2009

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Association between the interleukin 23 receptor and ankylosing spondylitis is confirmed by a new UK case-control study and meta-analysis of published series.
Tugce Karaderi, David Harvey, Claire Farrar, Louise H Appleton, Millicent A Stone, Jennifer J Pointon

Rheumatology (Oxford)· April 2009

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Toll-like receptor 4 and CD14 polymorphisms in ankylosing spondylitis: evidence of a weak association in Finns.
Jennifer J Pointon, Kay Chapman, David Harvey, Anne-Marie Sims, Linda Bradbury

J Rheumatol· August 2008

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

Nat Genet· November 2007

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Hemochromatosis gene (HFE) mutations in South East Asia: a potential for iron overload.
Jennifer J Pointon, Vip Viprakasit, Katie L Miles, Karen J Livesey, Michael Steiner

Blood Cells Mol Dis· March 2004

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Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.
Jon Emery, Peter Rose, Jean Harcourt, Karen Livesey, Alison Merryweather-Clarke, Jennifer J Pointon

Community Genet· March 2004

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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.
Alison T Merryweather-Clarke, Estelle Cadet, Adrian Bomford, Dominique Capron, Vip Viprakasit, Jennifer J Pointon

Hum Mol Genet· September 2003

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A valine deletion of ferroportin 1: a common mutation in hemochromastosis type 4.
Antonella Roetto, Alison T Merryweather-Clarke, Filomena Daraio, Karen Livesey, Jennifer J Pointon

Blood· July 2002

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