Mapping of the human genome has been instrumental in understanding diseases caused by changes in single genes. However, disease mechanisms involving multiple genes have proven to be much more elusive. Their complexity emerges from interactions of intracellular molecules and makes them immune to the traditional reductionist approach. Only by modelling this complex interaction pattern using netwo...

Despite the considerable progress in disease gene discovery, we are far from uncovering the underlying cellular mechanisms of diseases since complex traits, even many Mendelian diseases, cannot be explained by simple genotype^phenotype relationships. More recently, an increasingly accepted view is that human diseases result from perturbations of cellular systems, especially molecular networks. ...

the real pathophysiology of crohn’s disease is unknown. the higher prevalence of crohn’s disease in caucasian and jewish ethnicities, as well as its familial aggregation and higher concordance among monozygotic twins, suggest some roles for genes in its development, clinical progression, and outcome. recent original studies have indicated dlg5113g/a gene polymorphism as a risk factor for crohn’...

aim : the present study evaluated the association between g241r and k469e polymorphisms of intercellular adhesion molecule 1 gene and inflammatory bowel disease in iranian population.   background : inflammatory bowel disease including ulcerative colitis and crohn’s disease, is a chronic idiopathic inflammatory disease of the gastrointestinal tract. there are two single base polymorphisms of in...

in this study, we report a mutation in cybb gene in a patient with x-cgd (diagnosed on the base of family history, ndt test, dhr 123 assay). mutation in cybb gene was detected using sscp analysis (single-strand conformation polymorphism) followed by sequencing. during screening for mutations in the cybb gene we observed 880 c t in exon 8. this mutation resulted in 290 arg stop. we also observed...