Molecular basis of hypohidrotic ectodermal dysplasia: an update
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Updated: Apr 5, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Wieslaw H Trzeciak1, Ryszard Koczorowski2
1Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6, Swiecickiego St., 60-781, Poznan, Poland. trzeciak@ump.edu.pl.
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.
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