Genomes and Genes
M F McDermott
Affiliation: Queen Mary
- Linkage of familial Hibernian fever to chromosome 12p13M 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....
- Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromesM 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...
- TNF and TNFR biology in health and diseaseM 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...
- 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...
- Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetranceE 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...
- TNF and TNFR polymorphisms in severe sepsis and septic shock: a prospective multicentre studyA 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...
- Hereditary periodic fever syndromesM 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...
- Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvementK Minden
Ann Rheum Dis 63:1356-7. 2004
- Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148QS Stojanov
Rheumatology (Oxford) 43:526-7. 2004
- Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanerceptP 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...
- 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...
- Genetics of type 1 diabetes mellitusF 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...
- Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family studyZ 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...
- Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonismM 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...