Genomes and Genes
Affiliation: University College London
- Systemic juvenile idiopathic arthritis: diagnosis, management, and outcomePatricia Woo
Paediatric Rheumatology, Institute of Child Health and the Royal Free and University College Medical School, London, UK
Nat Clin Pract Rheumatol 2:28-34. 2006....
- An overview of genetics of paediatric rheumatic diseasesPatricia Woo
Windeyer Building, University College London, 46, Cleveland Street, London W1T 4JF, UK
Best Pract Res Clin Rheumatol 23:589-97. 2009..The genetic code is also modifiable by epigenetic mechanisms and examples of these in immunity and rheumatoid arthritis are given to indicate another area of research in the elucidation of the genetics of paediatric rheumatic diseases...
- Cytokines and juvenile idiopathic arthritisPatricia Woo
Windeyer Institute of Medical Sciences, Royal Free and University College of London Medical School, University College of London, 46 Cleveland Street, London W1T 4JF, UK
Curr Rheumatol Rep 4:452-7. 2002..These genetic variants may be the basis of genetic susceptibility to the persistent imbalance in the inflammatory and immune networks, and determine the phenotype and severity of disease...
- IL-6 polymorphisms: a useful genetic tool for inflammation research?Patricia Woo
Centre for Paediatric and Adolescent Rheumatology, Division of Infection and Immunity, University College London, London, United Kingdom
J Clin Invest 123:1413-4. 2013..01). This polymorphism has since been used as a functional variant to explore the role of elevated IL-6 levels in many common disease states, confirming the key causal role of IL-6 in human health and disease...
- Th1 and Th17 cell subpopulations are enriched in the peripheral blood of patients with systemic juvenile idiopathic arthritisEbun Omoyinmi
Department of Immunology and Molecular Pathology, University College London, 5 University Street, London WC1E 6JF, UK
Rheumatology (Oxford) 51:1881-6. 2012..The aim of this study was to examine the phenotype of circulating peripheral blood CD4(+) T-cell subpopulations in a cross-sectional study of sJIA patients during disease remission on medication and during acute flare of the disease...
- Novel IL10 gene family associations with systemic juvenile idiopathic arthritisMark S Fife
Centre of Pediatric and Adolescent Rheumatology, Windeyer Institute for Medical Sciences, University College London, Cleveland Street, London W1T 4JF, UK
Arthritis Res Ther 8:R148. 2006..The two marker 'A-T' haplotype confers an odds ratio of 2.24 for sJIA. This positive association suggests an important role for these cytokines in sJIA pathogenesis...
- The cytokine network in juvenile chronic arthritisP Woo
Department of Molecular Pathology, University College London Medical School, UK
Ann Med 29:145-7. 1997..Finally, the importance of identifying molecular targets for intervention therapy to change the balance of the cytokine network is proposed...
- Theoretical and practical basis for early aggressive therapy in paediatric autoimmune disordersPatricia Woo
Centre for Paediatric and Adolescent Rheumatology, University College London, London, UK
Curr Opin Rheumatol 21:552-7. 2009..This review will seek to highlight the consequences of chronic inflammation and the change to outcomes if adequate or 'aggressive' treatment is given early to induce remission...
- Open label phase II trial of single, ascending doses of MRA in Caucasian children with severe systemic juvenile idiopathic arthritis: proof of principle of the efficacy of IL-6 receptor blockade in this type of arthritis and demonstration of prolonged cliPatricia Woo
Great Ormond Street Hospital, NHS Trust, London, UK
Arthritis Res Ther 7:R1281-8. 2005....
- The developing human immune system: T-cell receptor repertoire of children and young adults shows a wide discrepancy in the frequency of persistent oligoclonal T-cell expansionsL R Wedderburn
Department of Molecular Pathology, University College London, UK
Immunology 102:301-9. 2001..These studies suggest that many factors affect the overall regulation of clone size in response to chronic antigens during the development of the immune system...
- Autologous stem cell transplantation for paediatric-onset polyarteritis nodosa: changes in autoimmune phenotype in the context of reduced diversity of the T- and B-cell repertoires, and evidence for reversion from the CD45RO(+) to RA(+) phenotypeL R Wedderburn
Paediatric Rheumatology Unit, Institute of Child Health and Department of Molecular Pathology, University College London, London, UK
Rheumatology (Oxford) 40:1299-307. 2001..Our data also show that 12 months after treatment these expanded T-cell clones were within the CD45RA(+) population, suggesting that reversion from the CD45RO(+) to the CD45RA(+) phenotype had occurred in vivo...
- Comprehensive association study of genetic variants in the IL-1 gene family in systemic juvenile idiopathic arthritisC J W Stock
Centre for Paediatric and Adolescent Rheumatology, Windeyer Institute for Medical Sciences, University College London, London, UK
Genes Immun 9:349-57. 2008..These results indicate that there may be aberrant control of the activity of the IL-1 family in sJIA patients causing the increased susceptibility to the disease...
- Divergence in the degree of clonal expansions in inflammatory T cell subpopulations mirrors HLA-associated risk alleles in genetically and clinically distinct subtypes of childhood arthritisL R Wedderburn
Rheumatology Unit, Institute of Child Health, University College London, 30 Guilford Street, London, UK
Int Immunol 13:1541-50. 2001..These data provide powerful data to support the concept that recognition of MHC-peptide complexes by T cells plays a role in the pathogenesis of juvenile arthritis...
- Quantitative assessment of MRI T2 relaxation time of thigh muscles in juvenile dermatomyositisS M Maillard
Juvenile Dermatomyositis Research Centre, Institute of Child Health, London, UK
Rheumatology (Oxford) 43:603-8. 2004..The aim of the study was to examine the validity and reliability of a quantifiable measure of inflammation using magnetic resonance imaging (MRI) in children with juvenile dermatomyositis (JDM)...
- Specific gene expression profiles in systemic juvenile idiopathic arthritisEmma Mary Ogilvie
University College London, London, UK
Arthritis Rheum 56:1954-65. 2007..The purpose of this study was to compare gene expression profiles in peripheral blood mononuclear cells (PBMCs) from patients with active and inactive systemic JIA to define and better understand the cause of active disease...
- Identification of a novel regulatory region in the interleukin-6 gene promoterJ M Samuel
Department of Immunology and Molecular Pathology, University College London, 46, Cleveland Street, London W1T4 JF, UK
Cytokine 42:256-64. 2008....
- Hereditary predisposition to low interleukin-10 production in children with extended oligoarticular juvenile idiopathic arthritisE Crawley
Department of Molecular Pathology, University College London Medical School, 46 Cleveland Street, London W1T 4JF, UK
Rheumatology (Oxford) 40:574-8. 2001..Because IL-10 is an anti-inflammatory cytokine, this may partly explain why this group of children has more severe disease...
- Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndromeK Davies
Department of Rheumatology, Great Ormond Street Hospital for Sick Children, London, UK
J Rheumatol 28:2326-34. 2001..This phenomenon and the true association of inflammatory arthritis and a chromosome deletion disorder provides further evidence of important genetic factors in the pathogenesis of JIA...
- Macrophage activation syndrome: a potentially fatal complication of rheumatic disordersS Sawhney
Department of Rheumatology, Great Ormond Street Hospital, London WC1N 3JH, UK
Arch Dis Child 85:421-6. 2001..Most of our patients were female, and most cases were preceded by infection. Bone marrow studies support the diagnosis. Deranged renal function may be a poor prognostic sign. Aggressive early therapy is essential...
- Intravenous cyclophosphamide pulse therapy in juvenile dermatomyositis. A review of efficacy and safetyP Riley
Juvenile Dermatomyositis Research Centre, Institute of Child Health, Great Ormond Street, London, UK
Rheumatology (Oxford) 43:491-6. 2004..To assess the efficacy and safety of intravenous cyclophosphamide (CYP) used in severe and refractory juvenile dermatomyositis (JDM)...
- Effectiveness of infliximab in the treatment of refractory juvenile dermatomyositis with calcinosisP Riley
Juvenile Dermatomyositis Research Centre, Institute of Child Health UCL, 30 Guilford Street, London WC1N 1EH, UK
Rheumatology (Oxford) 47:877-80. 2008..TNF-alpha has been identified in high levels in JDM patients who have a long disease course and calcinosis. We assessed the response of five refractory JDM patients to the anti-TNF-alpha monoclonal antibody, infliximab...
- The use of the British Isles Lupus Assessment Group (BILAG) index as a valid tool in assessing disease activity in childhood-onset systemic lupus erythematosusS D Marks
Nephro Urology Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Rheumatology (Oxford) 43:1186-9. 2004..The main aim of this study was to correlate the BILAG index with laboratory measures of disease activity in childhood-onset SLE with and without biopsy-proven lupus nephritis...
- No evidence for genetic association of interferon regulatory factor 1 in juvenile idiopathic arthritisMark S Fife
University College London, London, UK
Arthritis Rheum 56:972-6. 2007....
- Biologic therapy in refractory chronic non-bacterial osteomyelitis of childhoodDespina Eleftheriou
Department of Rheumatology, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, UK
Rheumatology (Oxford) 49:1505-12. 2010..We report on our clinical experience of using biologic therapy to treat children with these conditions...
- Validation of a protocol for the assessment of skin temperature and blood flow in childhood localised sclerodermaKevin J Howell
Department of Rheumatology, Royal Free Hospital, Pond Street, London NW3 2QG, UK
Skin Res Technol 15:346-56. 2009..We developed and validated a protocol using these techniques for the assessment of unilateral LS activity in children...
- B lymphocyte depletion therapy in children with refractory systemic lupus erythematosusStephen D Marks
Department of Paediatric Nephrology, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UK
Arthritis Rheum 52:3168-74. 2005..To determine the safety and efficacy of B lymphocyte depletion therapy in patients with refractory childhood-onset systemic lupus erythematosus (SLE)...
- Free Interleukin (IL)-18 levels, and the impact of IL18 and IL18BP genetic variation, in CHD patients and healthy menSimon R Thompson
Cardiovascular Genetics, Rayne Institute, University College London, WC1E 6JF, UK
Arterioscler Thromb Vasc Biol 27:2743-9. 2007..To investigate free interleukin-18 (fIL-18) levels, and variation within the IL-18 system genes, in heart surgery patients, and healthy men...
- The -174G allele of the interleukin-6 gene confers susceptibility to systemic arthritis in children: a multicenter study using simplex and multiplex juvenile idiopathic arthritis familiesEmma M Ogilvie
University College London, London, UK
Arthritis Rheum 48:3202-6. 2003..The present study was undertaken to confirm the previous findings and to assess possible association with variations of the A(n)T(n) tract in the promoter...
- Renal tubular dysfunction in children with systemic lupus erythematosusStephen D Marks
Nephro Urology Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Pediatr Nephrol 20:141-8. 2005..Evidence of tubular dysfunction in lupus non-nephritis patients may help to identify lupus nephritis prior to the onset of albuminuria...
- Effects of genetic variation on chromatin structure and the transcriptional machinery: analysis of the IL6 gene locusA J P Smith
Centre for Cardiovascular Genetics, UCL Institute of Cardiovascular Science, University College London, London, UK
Genes Immun 13:583-6. 2012..These studies highlight the importance of examining chromatin under different environmental conditions when studying the functionality of regulatory polymorphisms...
- Functional analysis of the interleukin-1-receptor-associated kinase (IRAK-1) in interleukin-1 beta-stimulated nuclear factor kappa B (NF-kappa B) pathway activation: IRAK-1 associates with the NF-kappa B essential modulator (NEMO) upon receptor stimulatioE L Cooke
Department of Molecular Pathology, The Windeyer Institute of Medical Sciences, University College London, 46 Cleveland Street, London W1P 6DB, UK
Biochem J 359:403-10. 2001..Moreover, IRAK-1 could be detected in NEMO immunoprecipitates from IL-1 beta-stimulated cells. We conclude that IRAK-1 mediates IL-1 beta signal transduction through a ligand-dependent association of IRAK-1 with the IKK complex...
- Isolated inflammatory coxitis associated with protrusio acetabuli: a new form of juvenile idiopathic arthritis?N Adib
Department of Rheumatology, Great Ormond Street Hospital, London, UK
Rheumatology (Oxford) 44:219-26. 2005..Our aim was to characterize and present the relevant demographic, clinical, investigational, treatment and outcome data from the above cohort...
- Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypesEbun Aganna
Barts and London, Queen Mary s School of Medicine and Dentistry, London, UK
Arthritis Rheum 48:2632-44. 2003..To investigate the prevalence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent with TRAPS...
- HNRNPA1 interacts with a 5'-flanking distal element of interleukin-6 and upregulates its basal transcriptionD Zheng
Division of Infection and Immunity, Department of Immunology and Molecular Pathology, Rayne Building, University College London, London, UK
Genes Immun 14:479-86. 2013..This regulation was dependent on the presence of the sequence from -5307 to -5202 bp of the IL-6 gene. Thus, HNRNPA1 is a novel transcriptional regulator of IL-6 expression, acting via the 5'-flanking sequence of the gene. ..
- Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosisE Aganna
Department of Diabetes and Metabolic Medicine, Barts and London, Queen Mary s School of Medicine and Dentistry, Whitechapel, London, UK
Genes Immun 5:289-93. 2004..Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects...
- Novel IL-6 haplotypes and disease associationM S Fife
Pediatric and Adolescent Rheumatology, University College London, UK
Genes Immun 6:367-70. 2005..This suggests that the haplotype effect may be more functionally relevant to the disease...
- Laser Doppler flowmetry for assessing localized scleroderma in childrenLisa Weibel
Great Ormond Street Hospital for Children, London, UK
Arthritis Rheum 56:3489-95. 2007..The aim of this study was to evaluate the role of laser Doppler flowmetry (LDF) in comparison with infrared thermography in the detection of scleroderma disease activity...
- The British version of the Childhood Health Assessment Questionnaire (CHAQ) and the Child Health Questionnaire (CHQ)J Nugent
Institute of Child Health, University College, London, United Kingdom
Clin Exp Rheumatol 19:S163-7. 2001..In conclusion the British version of the CHAQ-CHQ is a reliable, and valid tool for the functional, physical and psychosocial assessment of children with JIA...
- Synovial dendritic cells in juvenile idiopathic arthritis (JIA) express receptor activator of NF-kappaB (RANK)H Varsani
Rheumatology Unit, Institute of Child Health, University College London, London, UK
Rheumatology (Oxford) 42:583-90. 2003....
- Evaluation of methotrexate and corticosteroids for the treatment of localized scleroderma (morphoea) in childrenL Weibel
Paediatric Rheumatology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK
Br J Dermatol 155:1013-20. 2006..Drug treatment with systemic corticosteroids in combination with methotrexate has been reported to be beneficial in LS, but data in children is limited...
- Cross-talk between transcription factors NF-kappa B and C/EBP in the transcriptional regulation of genesC Xia
Department of Molecular Pathology, University College London, U K
Int J Biochem Cell Biol 29:1525-39. 1997..These results suggest the NF-kappa B and C/EBP may form a new complex of transcription factors that mediates the synergistic induction of SAA2 by IL-1 and IL-6...
- Immunization in rheumatic diseases of childhood: an audit of the clinical practice of British Paediatric Rheumatology Group members and a review of the evidenceK Davies
Department of Rheumatology, Great Ormond Street Hospital, London WC1N 3EJ, UK
Rheumatology (Oxford) 41:937-41. 2002..To review published guidelines on the subject and examine the evidence base supporting them...
- MHC Class I overexpression on muscles in early juvenile dermatomyositisCharles K C Li
Rheumatology Unit, Institute of Child Health, University College London and Great Ormond Street Hospital, London, UK
J Rheumatol 31:605-9. 2004....
- Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosisEbun Aganna
Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, London, UK
Arthritis Rheum 46:2445-52. 2002..This study was undertaken to characterize the genetic basis of FCU, MWS, and an overlapping disorder in French Canadian, British, and Indian families, respectively...
- Therapeutic efficacy of humanized recombinant anti-interleukin-6 receptor antibody in children with systemic-onset juvenile idiopathic arthritisShumpei Yokota
Yokohama City University School of Medicine, Kanagawa, Japan
Arthritis Rheum 52:818-25. 2005....
- Tapasin gene polymorphism in systemic onset juvenile rheumatoid arthritis: a family-based case-control studyHulya Bukulmez
William S, Rowe Division of Pediatric Rheumatology, Cincinnati Children s Hospital Medical Center, University of Cincinnati, Cincinnati, Ohio, USA
Arthritis Res Ther 7:R285-90. 2005..These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6...
- A randomized, placebo-controlled trial of infliximab plus methotrexate for the treatment of polyarticular-course juvenile rheumatoid arthritisNicolino Ruperto
IRCCS, Istituto G Gaslini, Genoa, Italy
Arthritis Rheum 56:3096-106. 2007..To evaluate the safety and efficacy of infliximab in the treatment of juvenile rheumatoid arthritis (JRA)...
- Analysis of common IL-6 promoter SNP variants and the AnTn tract in humans and primates and effects on plasma IL-6 levels following coronary artery bypass graft surgeryDaniel Kelberman
Centre for Cardiovascular Genetics, Department of Medicine, British Heart Foundation Laboratories, Royal Free and University College London Medical School, Rayne Building, 5 University Street, London WC1E 6JF, UK
Biochim Biophys Acta 1688:160-7. 2004..The conserved length of the AnTn tract and the association in vivo with IL-6 levels strongly suggest the functionality of the tract on IL-6 expression, independent of contributions from other polymorphic sites within the promoter...
- Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutationsKieron S Leslie
Department of Dermatology, University of California, San Francisco, USA
Arch Dermatol 142:1591-7. 2006..To characterize the multisystem chronic inflammatory phenotype, dermatopathologic features, and response to therapy with interleukin 1 receptor antagonist (anakinra) in patients with mutations in the CIAS-1/NALP3 gene...
- Anakinra treatment for systemic juvenile idiopathic arthritis and adult onset Still diseasePatricia Woo
Ann Rheum Dis 67:281-2. 2008
- International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001Ross E Petty
Division of Rheumatology, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada
J Rheumatol 31:390-2. 2004
- Juvenile polyarteritis: results of a multicenter survey of 110 childrenSeza Ozen
Department of Pediatrics, Hacettepe University, Ankara, Turkey
J Pediatr 145:517-22. 2004..To characterize pediatric patients who had been diagnosed with polyarteritis nodosa (PAN) through necrotizing vasculitis of the small and mid-size arteries or those with characteristic findings on angiograms data were collected...
- Localized scleroderma in childhood is not just a skin diseaseFrancesco Zulian
Dipartimento di Pediatria, Universita di Padova, Padua, Italy
Arthritis Rheum 52:2873-81. 2005..We studied the prevalence and clinical features of extracutaneous manifestations in a large cohort of children with juvenile localized scleroderma...
- Ocular involvement in children with localised scleroderma: a multi-centre studyMaria Elisabetta Zannin
Department of Pediatrics, Via Giustiniani 3, 35128 Padova, Italy
Br J Ophthalmol 91:1311-4. 2007..This article reports the frequency and specific features of ocular involvement in a large cohort of children with juvenile LS (JLS)...