Now showing items 1-8 of 8

    • Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases 

      Smyth, Deborah J.; Howson, Joanna M. M.; Payne, Felicity; Maier, Lisa M.; Bailey, Rebecca; Holland, Kieran; Lowe, Christopher E. et al. (2006-03-06)
      Abstract Background The identification of the HLA class II, insulin (INS), CTLA-4 and PTPN22 genes as determinants of type 1 diabetes (T1D) susceptibility indicates that fine tuning of the immune system is centrally involved ...
    • Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes 

      Maier, Lisa M.; Smyth, Deborah J.; Vella, Adrian; Payne, Felicity; Cooper, Jason D.; Pask, Rebecca; Lowe, Christopher E. et al. (2005-02-18)
      Abstract Background One strategy to help identify susceptibility genes for complex, multifactorial diseases is to map disease loci in a representative animal model of the disorder. The nonobese diabetic (NOD) mouse is a ...
    • Development of an integrated genome informatics, data management and workflow infrastructure: A toolbox for the study of complex disease genetics 

      Burren, Oliver S.; Healy, Barry C.; Lam, Alex C.; Schuilenburg, Helen; Dolman, Geoffrey E.; Everett, Vincent H.; Laneri, Davide et al. (2004-01-01)
      Abstract The genetic dissection of complex disease remains a significant challenge. Sample-tracking and the recording, processing and storage of high-throughput laboratory data with public domain data, require integration ...
    • Hypomorphism for human NSMCE2/MMS21 causes primordial dwarfism and insulin resistance 

      Payne, Felicity; Colnaghi, Rita; Rocha, Nuno; Seth, Asha; Harris, Julie; Carpenter, Gillian; Bottomley, William E. et al. (American Society for Clinical Investigation, 2014-09-02)
      Structural maintenance of chromosomes (SMC) complexes are essential for maintaining chromatin structure and regulating gene expression. Two the three known SMC complexes, cohesin and condensin, are important for sister ...
    • Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes 

      Morris, Gerard A. J.; Lowe, Christopher E.; Cooper, Jason D.; Payne, Felicity; Vella, Adrian; Godfrey, Lisa M.; Hulme, John S. et al. (2006-02-22)
      Abstract Background The aetiology of the autoimmune disease type 1 diabetes (T1D) involves many genetic and environmental factors. Evidence suggests that innate immune responses, including the action of interferons, may ...
    • Sequencing and association analysis of the type 1 diabetes - linked region on chromosome 10p12-q11. 

      Nejentsev, Sergey; Smink, Luc J.; Smyth, Deborah J.; Bailey, Rebecca; Lowe, Christopher E.; Payne, Felicity; Masters, Jennifer et al. (2007-05-17)
      Abstract Background In an effort to locate susceptibility genes for type 1 diabetes (T1D) several genome-wide linkage scans have been undertaken. A chromosomal region designated IDDM10 retained genome-wide significance in ...
    • The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes 

      Cooper, Jason D.; Smyth, Deborah J.; Bailey, Rebecca; Payne, Felicity; Downes, Kate; Godfrey, Lisa M.; Masters, Jennifer et al. (2007-11-28)
      Abstract Background As genes associated with immune-mediated diseases have an increased prior probability of being associated with other immune-mediated diseases, we tested three such genes, IL23R, IRF5 and CD40, for an ...
    • Truncation of POC1A associated with short stature and extreme insulin resistance 

      Chen, Jian-Hua; Segni, Maria; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Adams, Claire; UK10K Consortium et al. (Bioscientifica, 2015-10-01)
      We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, ...