Genomes and Genes
Catherine J Owen
Affiliation: University of Newcastle
- Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndromeCatherine J Owen
Institute of Human Genetics and Department of Child Health, University of Newcastle upon Tyne, United Kingdom
J Clin Endocrinol Metab 88:6034-9. 2003..Our analysis has elucidated the molecular basis of IPEX in one family and has, for the first time, provided evidence for an autosomal locus, suggesting genetic heterogeneity in this syndrome...
- Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease associationCatherine J Owen
Institute of Human Genetics, University of Newcastle, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
J Clin Endocrinol Metab 92:1106-11. 2007..These findings raise the possibility that this locus may influence autoimmune disease susceptibility across many populations...
- Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom populationCatherine J Owen
Institute of Human Genetics, International Centre for Life, University of Newcastle, Central Parkway, Newcastle upon Tyne, UK
J Mol Endocrinol 37:97-104. 2006..This study has found no robust evidence that FOXP3 gene polymorphism contributes to the susceptibility to GD or AAD in the UK population...
- Diagnosis and management of polyendocrinopathy syndromesCatherine J Owen
Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK
Endocrinol Metab Clin North Am 38:419-36, x. 2009..Further definition of susceptibility genes and autoantigens, as well as a better understanding of the pathogenesis, is required to improve the diagnosis and management of these patients...
- No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' diseaseClaire E Jennings
Institute of Human Genetics and School of Clinical Medical Sciences, University of Newcastle, Newcastle upon Tyne, UK
Clin Endocrinol (Oxf) 62:362-5. 2005..We aimed to establish whether this locus also contributes towards the genetic susceptibility to Graves' disease (GD) and autoimmune Addison's disease...
- Role of the CD40 locus in Graves' diseaseFiona A Houston
Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom
Thyroid 14:506-9. 2004..We are unable to confirm a role for CD40 in Graves' disease pathogenesis in our U.K. population, however, further studies involving larger patient cohorts and a saturated SNP marker map are required to resolve this issue...
- Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibilityAlison Sutherland
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
J Clin Endocrinol Metab 92:3338-41. 2007..Previous investigations have also demonstrated that an intronic polymorphism (termed PD1.3; SNP ID rs11568821) in the programmed cell death (PDCD1) gene was associated with systemic lupus erythematosus and rheumatoid arthritis...
- Discordance for X-linked hypophosphataemic rickets in identical twin girlsCatherine J Owen
Institute of Human Genetics, Centre for Life, Newcastle University, Sir James Spence Institute for Child Health, Royal Victoria Infirmary, Newcastle upon Tyne, UK
Horm Res 71:237-44. 2009..One twin had a skeletal and biochemical phenotype consistent with XLH, whilst the second twin appeared normal. Complete non-penetrance in XLH has not been previously reported and our aim was to explore potential reasons for this...
- FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunityManuela Fanciulli
Physiological Genomics and Medicine Group, UK Medical Research Council MRC Clinical Sciences Centre, Imperial College, London W12 0NN, UK
Nat Genet 39:721-3. 2007..Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity...
- Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experienceLin Lin
UCL Institute of Child Health and Department of Medicine, University College London, 30 Guilford Street, London WC1N 1EH, United Kingdom
J Clin Endocrinol Metab 91:3048-54. 2006....