Now showing items 1-14 of 14

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

      Smyth, Deborah J; Howson, Joanna McCammond; Payne, Felicity; Maier, Lisa M; Bailey, Rebecca; Holland, Kieran; Lowe, Christopher Eric 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 ...
    • The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes 

      Cooper, Jason David; 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 ...
    • 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 David; 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 ...
    • Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes. 

      Strawbridge, Rona J; Dupuis, Josée; Prokopenko, Inga; Barker, Adam; Ahlqvist, Emma; Rybin, Denis; Petrie, John R et al. (2011-10)
    • Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase. 

      Leiter, Sarah M; Parker, Victoria ER; Welters, Alena; Knox, Rachel; Rocha, Nuno; Clark, Graeme Richard; Payne, Felicity et al. (2017-08)
      OBJECTIVE: Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), ...
    • 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 ...
    • Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance. 

      Lotta, Luca Andrea; Gulati, Pawan; Day, Felix Ranulf; Payne, Felicity; Ongen, Halit; van, de Bunt Martijn; Gaulton, Kyle J et al. (Nature Publishing Group, 2017-01)
      Insulin resistance is a key mediator of obesity-related cardiometabolic disease, yet the mechanisms underlying this link remain obscure. Using an integrative genomic approach, we identify 53 genomic regions associated with ...
    • The metabolic syndrome- associated small G protein ARL15 plays a role in adipocyte differentiation and adiponectin secretion. 

      Rocha, Nuno Miguel; Payne, Felicity; Huang-Doran, Isabel; Sleigh, Alison; Fawcett, Katherine; Adams, Claire Louise; Stears, Anna et al. (Nature Publishing Group, 2017-12-14)
      Common genetic variants at the ARL15 locus are associated with plasma adiponectin, insulin and HDL cholesterol concentrations, obesity, and coronary atherosclerosis. The ARL15 gene encodes a small GTP-binding protein whose ...
    • No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levels. 

      Scott, Robert; Chu, Audrey Y; Grarup, Niels; Manning, Alisa K; Hivert, Marie-France; Shungin, Dmitry; Tönjes, Anke et al. (2012-05)
    • Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. 

      Dastani, Zari; Hivert, Marie-France; Timpson, Nicholas; Perry, John Richard; Yuan, Xin; Scott, Robert; Henneman, Peter et al. (2012-01)
    • Polymorphism discovery and association analyses of the interferon genes in type 1 diabetes 

      Morris, Gerard AJ; Lowe, Christopher Eric; Cooper, Jason David; 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 ...
    • 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 Louise; UK10K, Frances Lucy 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, ...