Finding NEMO: genetic disorders of NF-[kappa]B activation.
The pathways between a receptor and transcriptional activation mediated by NF-kappaB are complex. The study of human gene mutations that result in dysregulation of these pathways has provided insight into the functions of individual components of the pathway, their interrelations, and the significance of these systems to the organism.
Orange
Jordan S
JS
Division of Immunology, Children's Hospital, Boston, Massachusetts, USA.
Geha
Raif S
RS
D004476:Ectodermal Dysplasia / Q000235:genetics*; D006801:Humans; D051550:I-kappa B Kinase; D020672:I-kappa B Proteins / Q000235:genetics*; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D009154:Mutation; D016328:NF-kappa B / Q000502:physiology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology*; D014158:Transcription, Genetic
C083487:I kappa B beta protein; D020672:I-kappa B Proteins; D016328:NF-kappa B; D017346:Protein Serine-Threonine Kinases; C496559:CHUK protein, human; D051550:I-kappa B Kinase; C496560:IKBKB protein, human; C496565:IKBKE protein, human