M F McDermott

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. pmc Linkage of familial Hibernian fever to chromosome 12p13
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, UK
    Am J Hum Genet 62:1446-51. 1998
  2. ncbi request reprint Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, England
    Cell 97:133-44. 1999
  3. ncbi request reprint TNF and TNFR biology in health and disease
    M F McDermott
    Department of Diabetes and Metabolic Medicine, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Cell Mol Biol (Noisy-le-grand) 47:619-35. 2001
  4. ncbi request reprint Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
    E 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
  5. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
    E Aganna
    Unit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK
    Eur J Hum Genet 9:63-6. 2001
  6. ncbi request reprint TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study
    A C Gordon
    Institute of Cell and Molecular Science and William Harvey Research Institute, Barts and The London Queen Mary s School of Medicine and Dentistry, University of London, London, UK
    Genes Immun 5:631-40. 2004
  7. ncbi request reprint Hereditary periodic fever syndromes
    M F McDermott
    Unit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, Barts and The London, Queen Mary's School of Medicine and Dentistry, University of London, UK
    Neth J Med 59:118-25. 2001
  8. pmc Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement
    K Minden
    Ann Rheum Dis 63:1356-7. 2004
  9. ncbi request reprint Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q
    S Stojanov
    Rheumatology (Oxford) 43:526-7. 2004
  10. pmc Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
    P D Arkwright
    Academic Unit of Child Health, St Mary s Hospital, Manchester, UK
    Clin Exp Immunol 130:484-8. 2002

Collaborators

Detail Information

Publications14

  1. pmc Linkage of familial Hibernian fever to chromosome 12p13
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, UK
    Am J Hum Genet 62:1446-51. 1998
    ....
  2. ncbi request reprint Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, England
    Cell 97:133-44. 1999
    ..TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors. Detailed analysis of one such mutation suggests impaired cytokine receptor clearance as a novel mechanism of disease...
  3. ncbi request reprint TNF and TNFR biology in health and disease
    M F McDermott
    Department of Diabetes and Metabolic Medicine, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, UK
    Cell Mol Biol (Noisy-le-grand) 47:619-35. 2001
    ..Over the past 10 years these concepts have been used as the basis for successful anti-TNF therapy of autoimmune diseases like rheumatoid arthritis (RA) and Crohn's disease...
  4. ncbi request reprint Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
    E 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...
  5. ncbi request reprint Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance
    E Aganna
    Unit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, St Bartholomew s and the Royal London School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK
    Eur J Hum Genet 9:63-6. 2001
    ..As this R92P mutation is present in two unaffected carriers it appears to be less penetrant than previously reported TNFRSF1A mutations involving cysteine residues in the extracellular domains...
  6. ncbi request reprint TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre study
    A C Gordon
    Institute of Cell and Molecular Science and William Harvey Research Institute, Barts and The London Queen Mary s School of Medicine and Dentistry, University of London, London, UK
    Genes Immun 5:631-40. 2004
    ..The influence of polymorphisms of the TNF locus on susceptibility to, and outcome from sepsis remains uncertain...
  7. ncbi request reprint Hereditary periodic fever syndromes
    M F McDermott
    Unit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, Barts and The London, Queen Mary's School of Medicine and Dentistry, University of London, UK
    Neth J Med 59:118-25. 2001
    ..The pathogenesis remains unclear. Muckle-Wells syndrome (MWS) and familial cold urticaria (FCU) are probably allelic disorders. The gene has been located, but not identified...
  8. pmc Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement
    K Minden
    Ann Rheum Dis 63:1356-7. 2004
  9. ncbi request reprint Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q
    S Stojanov
    Rheumatology (Oxford) 43:526-7. 2004
  10. pmc Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept
    P D Arkwright
    Academic Unit of Child Health, St Mary s Hospital, Manchester, UK
    Clin Exp Immunol 130:484-8. 2002
    ..The proband therefore appears to have a novel clinical entity combining Hyper IgD syndrome with defective TNFRSF1A homeostasis, which is partially responsive to etanercept...
  11. ncbi request reprint A novel TNFRSF1A splice mutation associated with increased nuclear factor kappaB (NF-kappaB) transcription factor activation in patients with tumour necrosis factor receptor associated periodic syndrome (TRAPS)
    S M Churchman
    Section of Musculoskeletal Disease, Leeds Institute of Molecular Medicine, Leeds, UK
    Ann Rheum Dis 67:1589-95. 2008
    ..To characterise and investigate the functional consequences of a novel TNFRSF1A splice site mutation causing tumour necrosis factor receptor associated periodic syndrome (TRAPS) in a 16-year-old male patient and his mother...
  12. ncbi request reprint Genetics of type 1 diabetes mellitus
    F Pociot
    Steno Diabetes Center, DK 2820 Gentofte, Denmark
    Genes Immun 3:235-49. 2002
    ..Elucidation of the function of particular genes ('functional genomics') in the pathogenesis of T1D will be a most important element in future studies in this field, in addition to more sophisticated methods of statistical analyses...
  13. ncbi request reprint Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family study
    Z Md Chowdhury
    Bangladesh Institute of Research and Rehabilitation in Diabetes BIRDEM, Endocrine and Metabolic Disorders, Dhaka 1000, Bangladesh
    Genes Immun 3:5-8. 2002
    ..The genetic susceptibility to FCPD has features both similar and dissimilar to T1DM...
  14. pmc Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism
    M Rynne
    Academic Unit of Musculoskeletal Disease, Department of Rheumatology, Leeds General Infirmary, UK
    Ann Rheum Dis 65:533-4. 2006
    ..The proinflammatory cytokine, interleukin 1beta, is believed to have a fundamental role in their pathogenesis...