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Genomes and Genes | Elaine R NimmoSummaryAffiliation: University of Edinburgh Country: UK Publications
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Publications
TLE1 modifies the effects of NOD2 in the pathogenesis of Crohn's diseaseElaine R Nimmo
Gastrointestinal Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Molecular Medicine Centre, Western General Hospital, Edinburgh, UK
Gastroenterology 141:972-981.e1-2. 2011..The mechanisms by which specific mutations in NOD2/CARD15 increase the risk for Crohn's disease (CD) are unclear. We identified proteins that interact with NOD2 and investigated them by expression, genetic, and functional analyses...
The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's diseaseColin L Noble
Gastrointestinal Unit, Western General Hospital, University of Edinburgh, Edinburgh, Scotland
Gastroenterology 129:1854-64. 2005..We investigated associations with disease susceptibility, phenotype, and evidence for epistasis with CARD15 in 679 patients with Crohn's disease (CD) or ulcerative colitis (UC)...- Investigation of NOD1/CARD4 variation in inflammatory bowel disease using a haplotype-tagging strategyJohan Van Limbergen
Gastrointestinal Unit, Western General Hospital, University of Edinburgh, UK
Hum Mol Genet 16:2175-86. 2007..NOD2/CARD15 variant carriage had no influence on NOD1/CARD4 effect on IBD susceptibility. This study represents the first application of a gene -wide haplotype-tagging approach to assess, in detail, the contribution of NOD1/CARD4 in IBD... - Definition of phenotypic characteristics of childhood-onset inflammatory bowel diseaseJohan Van Limbergen
Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom
Gastroenterology 135:1114-22. 2008..We analyzed disease phenotypes and progression of childhood-onset disease and compared them with characteristics of adult-onset disease in patients in Scotland... - Genetics of the innate immune response in inflammatory bowel diseaseJohan Van Limbergen
Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Crewe Road South, Edinburgh EH4 2XU, UK
Inflamm Bowel Dis 13:338-55. 2007..We will focus on germline variation of genes encoding pathogen-recognition receptors, proteins involved in epithelial homeostasis and secreted antimicrobial proteins... - Genome-wide methylation profiling in Crohn's disease identifies altered epigenetic regulation of key host defense mechanisms including the Th17 pathwayElaine R Nimmo
Gastrointestinal Unit, Centre for Molecular Medicine, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh, UK
Inflamm Bowel Dis 18:889-99. 2012..The contribution of epigenetic alterations to disease pathogenesis is emerging as a research priority... - The genetics of inflammatory bowel diseaseJohan Van Limbergen
Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh, United Kingdom
Am J Gastroenterol 102:2820-31. 2007..Overall, these studies promise to change our fundamental understanding of IBD pathophysiology and to have implications for clinical practice... 
Analysis of germline GLI1 variation implicates hedgehog signalling in the regulation of intestinal inflammatory pathwaysCharlie W Lees
Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, United Kingdom
PLoS Med 5:e239. 2008....- New genes in inflammatory bowel disease: lessons for complex diseases?Daniel R Gaya
Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK
Lancet 367:1271-84. 2006..We review the recent advances in the genetics of inflammatory bowel disease, with particular emphasis on the data that have been generated since the discovery of the CARD15 (NOD2) gene in 2001... - Molecular genetics of Crohn's diseaseRichard K Russell
University of Edinburgh Department of Medical Sciences, School of Clinical and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
Curr Opin Genet Dev 14:264-70. 2004..Functional studies promise to increase understanding of the primary pathophysiology involved in Crohn's disease and these discoveries may yet change clinical practice... - Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitisGwo Tzer Ho
Gastrointestinal Unit, Western General Hospital, Edinburgh, Scotland, UK
Gastroenterology 128:288-96. 2005..The MDR1 exonic single nucleotide polymorphisms (SNPs) C3435T and G2677T have been shown to correlate with activity/expression of P-glycoprotein 170... - Disease location, anti-Saccharomyces cerevisiae antibody, and NOD2/CARD15 genotype influence the progression of disease behavior in Crohn's diseaseBen R K Smith
Gastrointestinal Unit, University of Edinburgh, Department of Medical Sciences, School of Clinical and Molecular Medicine, Western General Hospital, United Kingdom
Inflamm Bowel Dis 10:521-8. 2004..Clinical and biological influences on disease progression remain unclear. We examined the associations of CD disease progression at diagnosis and for up to 20 years of follow-up...