Genomes and Genes
R K Russell
Affiliation: University of Edinburgh
- IBD: a family affairR K Russell
Department of Medical Sciences, Gastrointestinal Unit, University of Edinburgh, Edinburgh EH4 2XU, UK
Best Pract Res Clin Gastroenterol 18:525-39. 2004..More than 75% children are diagnosed with IBD at a younger age than their parents but true genetic anticipation appears unlikely...
- Autophagy gene ATG16L1 influences susceptibility and disease location but not childhood-onset in Crohn's disease in Northern EuropeJ Van Limbergen
Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Crewe Road South, Edinburgh, UK
Inflamm Bowel Dis 14:338-46. 2008..Our aim was to assess whether germline variation of ATG16L1 acts as an independent determinant of susceptibility to childhood-onset CD in the high-incidence Scottish population...
- Contribution of the NOD1/CARD4 insertion/deletion polymorphism +32656 to inflammatory bowel disease in Northern EuropeJ Van Limbergen
Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, University of Edinburgh, Edinburgh, UK
Inflamm Bowel Dis 13:882-9. 2007..Our aim was to assess the influence of NOD1/CARD4+32656 on disease susceptibility and phenotype in the Scottish and Swedish IBD populations...
- Filaggrin loss-of-function variants are associated with atopic comorbidity in pediatric inflammatory bowel diseaseJ Van Limbergen
Molecular Medicine Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK
Inflamm Bowel Dis 15:1492-8. 2009..The aim was to assess the contribution of FLG null-alleles to pediatric IBD susceptibility and to coexistent atopy (eczema, asthma, allergic rhinitis, or food allergy)...
- Analysis of the influence of OCTN1/2 variants within the IBD5 locus on disease susceptibility and growth indices in early onset inflammatory bowel diseaseR K Russell
Gastrointestinal Unit, Molecular Medicine Centre, University of Edinburgh, Western General Hospital, UK
Gut 55:1114-23. 2006..The OCTN1 (SLC22A4 1672C-->T) and OCTN2 (SLC22A5 -207G-->C) variants within the IBD5 locus have been associated with susceptibility to adult onset Crohn's disease (CD), but their contribution in children has not been examined...
- Unravelling the complex genetics of inflammatory bowel diseaseR K Russell
Gastrointestinal Unit, University of Edinburgh, Department of Medical Sciences, Edinburgh, UK
Arch Dis Child 89:598-603. 2004..The background to this discovery and its implications form the basis for the present article...
- IL23R Arg381Gln is associated with childhood onset inflammatory bowel disease in ScotlandJ Van Limbergen
Gut 56:1173-4. 2007
- The frequency of CARD 15 mutations in the paediatric populationR K Russell
J Pediatr Gastroenterol Nutr 39:436. 2004
- CARD 15 / NOD 2 in paediatric onset Crohn's diseaseR K Russell
J Pediatr Gastroenterol Nutr 39:216. 2004
- The contribution of the DLG5 113A variant in early-onset inflammatory bowel diseaseR K Russell
Gastrointestinal Unit, Molecular Medicine Centre, Western General Hospital, Edinburgh, United Kingdom
J Pediatr 150:268-73. 2007..To assess the contribution of the 113 G-->A missense mutation within the discs, large homolog 5 (DLG5) gene in childhood-onset inflammatory bowel disease (IBD) in Scotland...
- Detailed assessment of NOD2/CARD15 exonic variation in inflammatory bowel disease in Scotland: implications for disease pathogenesisR K Russell
Department of Paediatric Gastroenterology, Yorkhill Hospital, Glasgow, UK
Genes Immun 9:556-60. 2008..955V/I carriage was higher in indeterminate colitis patients (n=29) compared to controls (41.4 vs 16.2%, P=0.001, OR=3.6 (1.6-8.2)). Population-specific NOD2/CARD15 exonic variants do not account for the high-CD prevalence in Scotland...