title: Molecular basis of hypohidrotic ectodermal dysplasia: an update.
abstract: Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.
authors: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6, Swiecickiego St., 60-781, Poznan, Poland. trzeciak@ump.edu.pl.
authors: Wieslaw H
authors: WH
authors: Trzeciak
authors: Department of Gerostomatology, Poznan University of Medical Sciences, 6, Swiecickiego St., 60-781, Poznan, Poland.
authors: Ryszard
authors: R
authors: Koczorowski
mesh_terms: D004475:Ectoderm / Q000254:growth & development; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000628:therapy; D006801:Humans; D040582:Inheritance Patterns; D008648:Mesoderm / Q000254:growth & development; D009154:Mutation; D016328:NF-kappa B / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D016328:NF-kappa B; D014409:Tumor Necrosis Factor-alpha
keywords: Differentiation of skin appendages; Hypohidrotic ectodermal dysplasia; TNFα-related signaling pathway