Now showing items 1-9 of 9

    • 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 ...
    • Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations 

      Huang-Doran, Isabel; Tomlinson, Patsy; Payne, Felicity; Gast, Alexandra; Sleigh, Alison; Bottomley, William; Harris, Julie et al. (American Society for Clinical Investigation, 2016-10-05)
      Obesity-related insulin resistance is associated with fatty liver, dyslipidemia, and low plasma adiponectin. Insulin resistance due to insulin receptor (INSR) dysfunction is associated with none of these, but when due to ...
    • 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, ...