title: NF-kappaB signaling and human disease.
abstract: Despite substantial progress in understanding the NF-kappaB signaling pathway, the connections between this pathway and human disease are only now being elucidated. Genes that function within or upstream of the NF-kappaB pathway have been found to cause four distinct disorders and two allelic conditions. Investigation of these genes and disorders has brought significant insight into the role of NF-kappaB in various aspects of physiological development.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA.
authors.forename: S
authors.initials: S
authors.lastname: Aradhya
authors.forename: D L
authors.initials: DL
authors.lastname: Nelson
mesh_terms: D000818:Animals; D004194:Disease; D004195:Disease Models, Animal; D004476:Ectodermal Dysplasia / Q000145:classification / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics / Q000378:metabolism; D008209:Lymphedema / Q000235:genetics / Q000378:metabolism; D016328:NF-kappa B / Q000235:genetics / Q000378:metabolism*; D010001:Osteitis Deformans / Q000235:genetics / Q000378:metabolism; D010014:Osteolysis / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction
chemical_list: D016328:NF-kappa B