Catherine J Owen

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. ncbi Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome
    Catherine 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
  2. ncbi Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association
    Catherine 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
  3. ncbi Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population
    Catherine 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
  4. doi Diagnosis and management of polyendocrinopathy syndromes
    Catherine J Owen
    Institute of Human Genetics, University of Newcastle, Newcastle upon Tyne, UK
    Endocrinol Metab Clin North Am 38:419-36, x. 2009
  5. ncbi No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease
    Claire 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
  6. ncbi Role of the CD40 locus in Graves' disease
    Fiona A Houston
    Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom
    Thyroid 14:506-9. 2004
  7. ncbi Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility
    Alison Sutherland
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne NE1 3BZ, United Kingdom
    J Clin Endocrinol Metab 92:3338-41. 2007
  8. doi Discordance for X-linked hypophosphataemic rickets in identical twin girls
    Catherine 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
  9. pmc FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    Manuela 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
  10. pmc Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience
    Lin 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

Collaborators

Detail Information

Publications10

  1. ncbi Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome
    Catherine 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...
  2. ncbi Analysis of the Fc receptor-like-3 (FCRL3) locus in Caucasians with autoimmune disorders suggests a complex pattern of disease association
    Catherine 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...
  3. ncbi Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population
    Catherine 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...
  4. doi Diagnosis and management of polyendocrinopathy syndromes
    Catherine 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...
  5. ncbi No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease
    Claire 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...
  6. ncbi Role of the CD40 locus in Graves' disease
    Fiona 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...
  7. ncbi Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility
    Alison 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...
  8. doi Discordance for X-linked hypophosphataemic rickets in identical twin girls
    Catherine 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...
  9. pmc FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity
    Manuela 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...
  10. pmc Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience
    Lin 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
    ....