Matthew A Brown

Summary

Affiliation: University of Queensland
Country: Australia

Publications

  1. pmc Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease
    Patrick Danoy
    The University of Queensland Diamantina Institute, Brisbane, Australia
    PLoS Genet 6:e1001195. 2010
  2. ncbi Genetics and the pathogenesis of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia
    Curr Opin Rheumatol 21:318-23. 2009
  3. ncbi Breakthroughs in genetic studies of ankylosing spondylitis
    M A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD, 4102, Australia
    Rheumatology (Oxford) 47:132-7. 2008
  4. doi Progress in the genetics of ankylosing spondylitis
    Matthew A Brown
    Human Genetics Group, University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba
    Brief Funct Genomics 10:249-57. 2011
  5. ncbi Re: Zhu et al, "A novel gene variation of TNF alpha associated with ankylosing spondylitis: a reconfirmed study"
    M A Brown
    University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
    Ann Rheum Dis 67:434; discussion 434-6. 2008
  6. pmc Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
    Arthritis Res Ther 11:254. 2009
  7. doi Genetics of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    Curr Opin Rheumatol 22:126-32. 2010
  8. ncbi Genomewide screens in ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, QLD, Australia
    Adv Exp Med Biol 649:148-58. 2009
  9. doi Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese
    Stuart I Davidson
    The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    Ann Rheum Dis 70:289-92. 2011
  10. ncbi Brief report: high-throughput sequencing of IL23R reveals a low-frequency, nonsynonymous single-nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population
    Stuart I Davidson
    University of Queensland Diamantina Institute and Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Arthritis Rheum 65:1747-52. 2013

Detail Information

Publications75

  1. pmc Association of variants at 1q32 and STAT3 with ankylosing spondylitis suggests genetic overlap with Crohn's disease
    Patrick Danoy
    The University of Queensland Diamantina Institute, Brisbane, Australia
    PLoS Genet 6:e1001195. 2010
    ..Finally these findings suggest common aetiopathogenic pathways for AS and Crohn's disease and further highlight the involvement of common risk variants across multiple diseases...
  2. ncbi Genetics and the pathogenesis of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia
    Curr Opin Rheumatol 21:318-23. 2009
    ....
  3. ncbi Breakthroughs in genetic studies of ankylosing spondylitis
    M A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD, 4102, Australia
    Rheumatology (Oxford) 47:132-7. 2008
    ....
  4. doi Progress in the genetics of ankylosing spondylitis
    Matthew A Brown
    Human Genetics Group, University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba
    Brief Funct Genomics 10:249-57. 2011
    ..These advances point to several potential novel therapeutic approaches in AS...
  5. ncbi Re: Zhu et al, "A novel gene variation of TNF alpha associated with ankylosing spondylitis: a reconfirmed study"
    M A Brown
    University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
    Ann Rheum Dis 67:434; discussion 434-6. 2008
  6. pmc Progress in spondylarthritis. Progress in studies of the genetics of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Brisbane 4102, Australia
    Arthritis Res Ther 11:254. 2009
    ..The current studies in AS remain underpowered, and no full genomewide association study has yet been reported in AS; such studies are likely to add to the significant advances that have already been made...
  7. doi Genetics of ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    Curr Opin Rheumatol 22:126-32. 2010
    ..The purpose of this review is to discuss the major findings of these studies, and the answers they provide and questions they raise about the pathogenesis of this common condition...
  8. ncbi Genomewide screens in ankylosing spondylitis
    Matthew A Brown
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba, QLD, Australia
    Adv Exp Med Biol 649:148-58. 2009
    ..In this chapter the genetic epidemiology of AS and the gene-mapping studies performed to date will be reviewed and the future direction of research in this field discussed...
  9. doi Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese
    Stuart I Davidson
    The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    Ann Rheum Dis 70:289-92. 2011
    ..A candidate gene study in a Han Chinese population was performed based on these findings to identify associated genes in this population...
  10. ncbi Brief report: high-throughput sequencing of IL23R reveals a low-frequency, nonsynonymous single-nucleotide polymorphism that is associated with ankylosing spondylitis in a Han Chinese population
    Stuart I Davidson
    University of Queensland Diamantina Institute and Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Arthritis Rheum 65:1747-52. 2013
    ..The present study was undertaken to screen IL23R to identify rare variants associated with AS in Han Chinese...
  11. doi Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population
    Stuart I Davidson
    Princess Alexandra Hospital, University of Queensland, Brisbane, Queensland, Australia
    Arthritis Rheum 60:3263-8. 2009
    ..Based on these findings, we undertook the current study to investigate whether single-nucleotide polymorphisms (SNPs) covering the genes ERAP1 and IL23R are associated with AS in a Han Chinese population...
  12. pmc Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci
    Adrian Cortes
    University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, Queensland, Australia
    Nat Genet 45:730-8. 2013
    ..Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression. ..
  13. ncbi Mapping genes for osteoporosis--old dogs and new tricks
    Emma L Duncan
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
    Bone 46:1219-25. 2010
    ....
  14. doi Resequencing and fine-mapping of the chromosome 12q13-14 locus associated with multiple sclerosis refines the number of implicated genes
    Adrian Cortes
    University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD 4102, Australia
    Hum Mol Genet 22:2283-92. 2013
    ....
  15. doi Enrichment of circulating interleukin-17-secreting interleukin-23 receptor-positive γ/δ T cells in patients with active ankylosing spondylitis
    Tony J Kenna
    University of Queensland, Brisbane, Queensland, Australia
    Arthritis Rheum 64:1420-9. 2012
    ..IL23R is genetically associated with AS. This study was undertaken to investigate and characterize the role of interleukin-23 (IL-23) signaling in AS pathogenesis...
  16. pmc Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB
    Andreas Zankl
    The University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, QLD, Australia
    Am J Hum Genet 90:494-501. 2012
    ..Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development...
  17. doi Association of variants in MMEL1 and CTLA4 with rheumatoid arthritis in the Han Chinese population
    Patrick Danoy
    Human Genetics Group, The University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Ann Rheum Dis 70:1793-7. 2011
    ..However, few studies have tried to dissect disease aetiopathogenesis in other ethnic populations...
  18. pmc Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk
    Emma L Duncan
    University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Australia
    PLoS Genet 7:e1001372. 2011
    ..In addition to identifying further genes associated with BMD, this study confirms the efficiency of extreme-truncate selection designs for quantitative trait association studies...
  19. ncbi Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas
    Aideen M McInerney-Leo
    The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia
    Clin Endocrinol (Oxf) 80:25-33. 2014
    ..A phenotype-directed iterative approach may limit costs but may also delay diagnosis, and will not detect mutations in genes not previously associated with PCC/PGL...
  20. doi Gene expression profiling reveals a downregulation in immune-associated genes in patients with AS
    Ran Duan
    Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
    Ann Rheum Dis 69:1724-9. 2010
    ..To identify differentially expressed genes in peripheral blood mononuclear cells (PBMCs) from patients with ankylosing spondylitis (AS) compared with healthy individuals...
  21. ncbi Non-major-histocompatibility-complex genetics of ankylosing spondylitis
    Matthew A Brown
    Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, QLD 4102, Australia
    Best Pract Res Clin Rheumatol 20:611-21. 2006
    ..Nonetheless, it is appropriate for the field to be cautiously optimistic that the next few years will bring great advances in our understanding of the genetics of this condition...
  22. pmc Expression profiling in spondyloarthropathy synovial biopsies highlights changes in expression of inflammatory genes in conjunction with tissue remodelling genes
    Gethin P Thomas
    The University of Queensland Diamantina Institute, Translational Research Institute, 37 Kent St, Woolloongabba, QLD 4102, Australia
    BMC Musculoskelet Disord 14:354. 2013
    ..By undertaking a study in knee synovial biopsies from spondyloarthropathy (SpA) and ankylosing spondylitis (AS) patients we aimed to elucidate dysregulated genes and pathways...
  23. doi Genetics of ankylosing spondylitis
    Philip C Robinson
    University of Queensland Diamantina Institute, Translational Research Institute, 37 Kent Road, Princess Alexandra Hospital, Brisbane, Australia
    Mol Immunol 57:2-11. 2014
    ..Significant progress has been made in the genetics of AS have in the last five years, leading to new treatments in trial, and major leaps in understanding of the aetiopathogenesis of the disease. ..
  24. doi The genetics of ankylosing spondylitis and axial spondyloarthritis
    Philip C Robinson
    University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Woolloongabba, Queensland 4102, Australia
    Rheum Dis Clin North Am 38:539-53. 2012
    ..Studies with larger samples and including non-European ethnic groups are likely to further advance the understanding of the genetics of AS and spondyloarthritis...
  25. pmc Integrated genome-wide chromatin occupancy and expression analyses identify key myeloid pro-differentiation transcription factors repressed by Myb
    Liang Zhao
    The University of Queensland Diamantina Institute, Brisbane, Queensland 4102, Australia
    Nucleic Acids Res 39:4664-79. 2011
    ....
  26. doi Genetics and genomics of ankylosing spondylitis
    Gethin P Thomas
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, QLD, Australia
    Immunol Rev 233:162-80. 2010
    ..Given the slow progress in studying the mechanism of association of HLA-B27 with AS, these may prove to be more fruitful approaches to investigating the pathogenesis of the disease...
  27. ncbi Interleukin-23 mediates the intestinal response to microbial β-1,3-glucan and the development of spondyloarthritis pathology in SKG mice
    Helen Benham
    University of Queensland and Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Arthritis Rheumatol 66:1755-67. 2014
    ..We undertook this study to determine the location of IL-23 production and its role in SpA pathogenesis in BALB/c ZAP-70(W163C)-mutant (SKG) mice injected intraperitoneally with β-1,3-glucan (curdlan)...
  28. ncbi Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions
    Emma L Duncan
    University of Queensland Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
    J Clin Endocrinol Metab 95:2576-87. 2010
    ..Genetic studies are making increasingly rapid progress in identifying the genes involved...
  29. doi Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis
    S M J Harney
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
    Rheumatology (Oxford) 47:1761-7. 2008
    ..In the present study, we aimed to refine these associations further using a combination of genotyping and gene expression studies...
  30. pmc Genetic studies in osteoporosis--the end of the beginning
    Emma L Duncan
    The University of Queensland, Diamantina Institute for Cancer Immunology and Metabolic Medicine, Princess Alexandra Hospital, Woolloongabba QLD 4102, Australia
    Arthritis Res Ther 10:214. 2008
    ..This article outlines what we know about osteoporosis genetics to date and the probable future directions of research in this field...
  31. doi Axial spondyloarthritis: a new disease entity, not necessarily early ankylosing spondylitis
    Philip Cameron Robinson
    University of Queensland Diamantina Institute, Princess Alexandra Hospital, Level 4, R Wing, Building 1, Woolloongabba, Brisbane, QLD 4102, Australia
    Ann Rheum Dis 72:162-4. 2013
    ..In the meantime the modified New York criteria for ankylosing spondylitis remain a very useful classification criteria set, defining a relatively homogenous group of cases for clinical use and research studies...
  32. pmc Five years of GWAS discovery
    Peter M Visscher
    University of Queensland Diamantina Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Am J Hum Genet 90:7-24. 2012
    ..We return to the perceived failure or disappointment about GWASs in the concluding section...
  33. pmc Promise and pitfalls of the Immunochip
    Adrian Cortes
    University of Queensland Diamantina Institute, Brisbane, Queensland, Australia
    Arthritis Res Ther 13:101. 2011
    ..This chip provides a powerful tool for immunogenetics gene mapping...
  34. ncbi Genomics of ankylosing spondylitis
    Gethin P Thomas
    University of Queensland Diamantina Institute, Woolloongabba, Queensland, 4102, Australia
    Discov Med 10:263-71. 2010
    ..Future studies will require collaborative approaches to target specific disease stages and sites with larger numbers of samples...
  35. pmc Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia
    Evgeny A Glazov
    University of Queensland Diamantina Institute, Princess Alexandra Hospital, Woolloongabba, Australia
    PLoS Genet 7:e1002027. 2011
    ....
  36. pmc Identification of IL6R and chromosome 11q13.5 as risk loci for asthma
    Manuel A R Ferreira
    The Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Lancet 378:1006-14. 2011
    ..We aimed to identify novel genetic variants affecting asthma risk, since these might provide novel insights into molecular mechanisms underlying the disease...
  37. ncbi Prospective meta-analysis of interleukin 1 gene complex polymorphisms confirms associations with ankylosing spondylitis
    A M Sims
    Diamantina Institute of Cancer, Immunology and Metabolic Medicine, University of Queensland, Brisbane, Quensland, Australia
    Ann Rheum Dis 67:1305-9. 2008
    ..The aim of the current study was to determine the contribution of interleukin (IL)1 gene cluster polymorphisms previously implicated in susceptibility for ankylosing spondylitis (AS) to AS susceptibility in different populations worldwide...
  38. ncbi Consensus statement on the investigation and management of non-radiographic axial spondyloarthritis (nr-axSpA)
    Philip C Robinson
    University of Queensland Diamantina Institute, Brisbane, Queensland, Australia Department of Rheumatology, Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Int J Rheum Dis 17:548-56. 2014
    ..The aim of this article was to construct a set of consensus statements based on a literature review to guide investigation and promote best management of nr-axSpA...
  39. ncbi Genetic analyses in a sample of individuals with high or low BMD shows association with multiple Wnt pathway genes
    Anne Marie Sims
    Diamantina Institute for Cancer, Immunology and Metabolic Medicine, Brisbane, Australia
    J Bone Miner Res 23:499-506. 2008
    ..This confirms that extreme truncate selection is a powerful design for quantitative trait association studies of bone phenotypes...
  40. pmc Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
    Aideen M McInerney-Leo
    The University of Queensland Diamantina Institute, Translational Research Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia
    Am J Hum Genet 93:515-23. 2013
    ..These findings show that WDR60 mutations can cause skeletal ciliopathies and suggest a role for WDR60 in ciliogenesis. ..
  41. doi The role of IL-17-secreting mast cells in inflammatory joint disease
    Tony J Kenna
    The University of Queensland Diamantina Institute, Level 4, R Wing, Princess Alexandra Hospital, Ipswich Road, Brisbane, QLD 4102, Australia
    Nat Rev Rheumatol 9:375-9. 2013
    ....
  42. doi β-glucan triggers spondylarthritis and Crohn's disease-like ileitis in SKG mice
    Merja Ruutu
    University of Queensland and Princess Alexandra Hospital, Brisbane, Queensland, Australia
    Arthritis Rheum 64:2211-22. 2012
    ..This study was undertaken to determine whether SKG mice injected with 1,3-β-glucan (curdlan) develop evidence of SpA, and the relationship of innate and adaptive autoimmunity to this process...
  43. pmc Replication of association of IL1 gene complex members with ankylosing spondylitis in Taiwanese Chinese
    C T Chou
    Centre for Immunology and Cancer Research, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Queensland 4102, Australia
    Ann Rheum Dis 65:1106-9. 2006
    ..To test the association of interleukin 1 (IL1) gene family members with ankylosing spondylitis (AS), previously reported in Europid subjects, in an ethnically remote population...
  44. ncbi Combined analysis of three whole genome linkage scans for Ankylosing Spondylitis
    K W Carter
    Laboratory for Genetic Epidemiology, Western Australian Institute for Medical Research, UWA Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia
    Rheumatology (Oxford) 46:763-71. 2007
    ..One potential solution to these issues is to combine data from multiple studies in a retrospective meta-analysis...
  45. pmc Whole-genome screening in ankylosing spondylitis: evidence of non-MHC genetic-susceptibility loci
    S H Laval
    Spondyloarthritis and Bone Disease Research Group, Wellcome Trust Centre for Human Genetics, Headington, OX3 7BN, United Kingdom
    Am J Hum Genet 68:918-26. 2001
    ..6. The strongest non-MHC linkage lies on chromosome 16q (overall LOD score 4.7). These results strongly support the presence of non-MHC genetic-susceptibility factors in AS and point to their likely locations...
  46. ncbi A genome-wide screen for susceptibility loci in ankylosing spondylitis
    M A Brown
    Wellcome Trust Centre for Human Genetics, Headington, UK
    Arthritis Rheum 41:588-95. 1998
    ..To localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS)...
  47. ncbi Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis
    A Milicic
    Nuffield Orthopaedic Centre, Windmill Rd, Headington, OX3 7LD, UK
    Genes Immun 1:418-22. 2000
    ..More likely, a second, non-HLA-B, MHC locus is involved in susceptibility to AS in these two populations...
  48. ncbi Is disease severity in ankylosing spondylitis genetically determined?
    J Hamersma
    University Hospital Vrije Universiteit, Armsterdam, The Netherlands
    Arthritis Rheum 44:1396-400. 2001
    ..To assess the role of genes and the environment in determining the severity of ankylosing spondylitis...
  49. ncbi Genetics of ankylosing spondylitis
    M A Brown
    Wellcome Trust Centre for Human Genetics, Spondyloarthritis and Bone Disease Research Group, Oxford, United Kingdom
    Clin Exp Rheumatol 20:S43-9. 2002
    ..Although some genes, notably HLA-B27, have been implicated in susceptibility to the disease, the genetics of the condition are complex and many more genes involved in the condition await discovery...
  50. ncbi The effect of transforming growth factor beta1 gene polymorphisms in ankylosing spondylitis
    E Jaakkola
    Wellcome Trust Centre for Human Genetics, Oxford, UK
    Rheumatology (Oxford) 43:32-8. 2004
    ..To determine whether genetic polymorphisms in or near the transforming growth factor beta1 (TGFB1) locus were associated with susceptibility to or severity of ankylosing spondylitis (AS)...
  51. ncbi Non-B27 MHC associations of ankylosing spondylitis
    A M Sims
    Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, UK
    Genes Immun 8:115-23. 2007
    ..Interrogation of the data identified a region of 270 kb, lying from 31 952 649 to 32 221 738 base pairs from the p-telomere of chromosome 6 and containing 23 genes, which is likely to include genes involved with susceptibility to AS...
  52. ncbi Effects of PTPN22 C1858T polymorphism on susceptibility and clinical characteristics of British Caucasian rheumatoid arthritis patients
    P Harrison
    Botnar Research Centre, University of Oxford, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK
    Rheumatology (Oxford) 45:1009-11. 2006
    ..To confirm the association of a functional single-nucleotide polymorphism (SNP), C1858T (rs2476601), in the PTPN22 gene of British Caucasian rheumatoid arthritis (RA) patients and to evaluate its influence on the RA phenotype...
  53. pmc HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis
    S Harney
    Ann Rheum Dis 64:655; author reply 655. 2005
  54. ncbi Estrogen receptor alpha regulates area-adjusted bone mineral content in late pubertal girls
    J H Tobias
    Clinical Science at South Bristol, University of Bristol, Bristol, United Kingdom
    J Clin Endocrinol Metab 92:641-7. 2007
    ..Whether the action of estrogen in skeletal development depends on estrogen receptor alpha as encoded by the ESR1 gene is unknown...
  55. ncbi Structural organization of the genes for murine and human leukemia inhibitory factor. Evolutionary conservation of coding and non-coding regions
    J Stahl
    Walter and Eliza Hall Institute of Medical Research, Royal Melbourne Hospital, Parkville, Victoria, Australia
    J Biol Chem 265:8833-41. 1990
    ..Seven segments displaying greater than 75% homology were identified, with the 5' and 3' ends of the transcription unit revealing the highest degree of homology. These conserved regions represents potential cis-acting control elements...
  56. ncbi Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families
    C F Xu
    Somatic Cell Genetics, Imperial Cancer Research Fund, London, United Kingdom
    Genes Chromosomes Cancer 18:102-10. 1997
    ..Seven variant BRCA1 transcripts were identified by RT-PCR; all but one maintained the BRCA1 open reading frame. We believe that alternative splicing may play a significant role in modulating the physiological function of BRCA1...
  57. ncbi The 5' end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21
    M A Brown
    Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, UK
    Oncogene 12:2507-13. 1996
    ..We believe that these findings could not only confound BRCA1 mutation analysis, but could have implications for the normal and abnormal regulation of BRCA1 transcription, translation and function...
  58. ncbi Leukaemia inhibitory factor and interleukin 6 are expressed at very low levels in the normal adult mouse and are induced by inflammation
    M A Brown
    Walter and Eliza Hall Institute of Medical Research, P O Royal Melbourne Hospital, Parkville, Victoria, Australia
    Cytokine 6:300-9. 1994
    ..This induction of LIF and IL-6, by LPS and culturing, may reflect the role of these molecules as mediators of the acute phase response to tissue damage...
  59. ncbi Human leucocyte antigen-B27 and ankylosing spondylitis
    M A Brown
    Intern Med J 37:739-40. 2007
  60. pmc Physical mapping, cloning, and identification of genes within a 500-kb region containing BRCA1
    M A Brown
    Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom
    Proc Natl Acad Sci U S A 92:4362-6. 1995
    ..Approximately 70 exons were isolated from this region, 11 of which were components of the BRCA1 gene. Analysis of the other exons revealed a rho-related G protein and the interferon-induced leucine-zipper protein IFP-35...
  61. ncbi Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase
    S Datta
    Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
    J Biol Chem 263:1107-10. 1988
    ..Analysis of hybrids containing different translocations of chromosome 15 localized the gene to the region 15q15----q22...
  62. ncbi Alternatively spliced RNAs encode several isoforms of CD46 (MCP), a regulator of complement activation
    D F Purcell
    Department of Pathology, University of Melbourne, Parkville, Victoria, Australia
    Immunogenetics 33:335-44. 1991
    ..The alternative RNAs for CD46 may correlate to the different isoforms of CD46 found in different tissues, tumors, and in serum...
  63. ncbi Australian data do not support current Pharmaceutical Benefits Scheme criteria for use of tumour necrosis factor-alpha inhibitors in ankylosing spondylitis
    L Schachna
    Intern Med J 36:755-6. 2006
  64. ncbi Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genes
    M A Brown
    Bone and Mineral Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia
    J Bone Miner Res 16:758-64. 2001
    ..These data support the involvement of COL1A1 in determination of bone density and the interaction of both COL1A1 and VDR with calcium intake in regulation of change of bone density over time...
  65. ncbi A novel human leucocyte antigen-DRB1 genotyping method based on multiplex primer extension reactions
    E Jaakkola
    The Botnar Research Center, Oxford, UK
    Tissue Antigens 64:88-95. 2004
    ..In this article, we describe the method and discuss its advantages and limitations...
  66. ncbi A review of the MHC genetics of rheumatoid arthritis
    J L Newton
    Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, UK
    Genes Immun 5:151-7. 2004
    ..Investigation of other candidate genes, in particular those that reside within the major histocompatibility complex, are hampered by the presence of strong linkage disequilibrium and problems with study design...
  67. ncbi Investigation of the role of ANKH in ankylosing spondylitis
    A E Timms
    Wellcome Trust Centre for Human Genetics, Headington, UK
    Arthritis Rheum 48:2898-902. 2003
    ..This study was undertaken to investigate the role of ANKH in susceptibility to and clinical manifestations of AS...
  68. ncbi Genetic and genomic studies of PADI4 in rheumatoid arthritis
    S M J Harney
    University of Oxford, Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Windmill Road, Oxford OX3 7LD, UK
    Rheumatology (Oxford) 44:869-72. 2005
    ..We therefore undertook a further study of genetic association between PADI4 and RA in UK Caucasians and also studied expression of PADI4 in the peripheral blood of patients with RA...
  69. ncbi Interleukin 10 polymorphisms in ankylosing spondylitis
    V Goedecke
    WellcomeTrust Centre for Human Genetics, Roosevelt Drive, Headington, Oxfordm UK
    Genes Immun 4:74-6. 2003
    ..03). We conclude that IL10 promoter polymorphisms have no significant effect on susceptibility to AS, but may play a minor role in determining age of disease onset and disease severity...
  70. ncbi Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old children
    J H Tobias
    Rheumatology Unit, Bristol Royal Infirmary, Bristol, UK
    J Clin Endocrinol Metab 92:2286-91. 2007
    ..Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha may be associated with fat mass in adults...
  71. pmc The F158V polymorphism in FcgammaRIIIA shows disparate associations with rheumatoid arthritis in two genetically distinct populations
    A Milicic
    Wellcome Trust Centre for Human Genetics, Headington, Oxford, UK
    Ann Rheum Dis 61:1021-3. 2002
    ..To investigate the association of the FcgammaRIIIA gene with rheumatoid arthritis (RA) in two genetically distinct groups: a white group from the United Kingdom and a northern Indian group...
  72. pmc Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis
    E Jaakkola
    Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford, United Kingdom
    Ann Rheum Dis 65:775-80. 2006
    ..To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population...
  73. ncbi Polymorphism in codon 17 of the CTLA-4 gene (+49 A/G) is not associated with susceptibility to rheumatoid arthritis in British Caucasians
    A Milicic
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Tissue Antigens 58:50-4. 2001
    ..We conclude that, although the importance of the B7-CTLA-4 interaction in the development of RA can not be excluded, the CTLA-4 gene is unlikely to be a predisposing factor to this disease...
  74. ncbi Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis
    Y Zhang
    Oxford University Institute of Musculoskeletal Sciences, Botnar Research Centre, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK
    Rheumatology (Oxford) 46:586-9. 2007
    ..We have previously showed that genetic variation in ANKH is a cause of autosomal dominant familial CC and also some sporadic cases of CPPD CC. We now investigate the possible role of ENPP1 and TNAP in CPPD CC...
  75. ncbi Genetic studies of disorders of calcium crystal deposition
    A E Timms
    Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Headington, Oxford OX3 7BN, UK
    Rheumatology (Oxford) 41:725-9. 2002