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J Appl Genet. 2016 Feb;57(1):51-61. doi: 10.1007/s13353-015-0307-4. Epub 2015 Aug 21.

Molecular basis of hypohidrotic ectodermal dysplasia: an update.

Author information

1
Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, 6, Swiecickiego St., 60-781, Poznan, Poland. trzeciak@ump.edu.pl.
2
Department of Gerostomatology, Poznan University of Medical Sciences, 6, Swiecickiego St., 60-781, Poznan, Poland.

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.

KEYWORDS:

Differentiation of skin appendages; Hypohidrotic ectodermal dysplasia; TNFα-related signaling pathway

PMID:
26294279
PMCID:
PMC4731439
DOI:
10.1007/s13353-015-0307-4
[Indexed for MEDLINE]
Free PMC Article

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