English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Hypohidrotic ectodermal dysplasia (HED) is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. It is caused by mutations in any of three Eda pathway genes: ectodysplasin ( Eda ), Eda receptor ( Edar ), and Edar-associated death domain ( Edaradd ), which encode ligand, receptor, and intracellular adaptor molecule, respectively. The Eda signaling pathway activates NF-κB, which is central to ectodermal differentiation. Although the causative genes and the molecular pathway affecting HED have been identified, no curative treatment for HED has been established. Previously, we found a rat spontaneous mutation that caused defects in hair follicles and named it sparse-and-wavy ( swh ). Here, we have established the  swh  rat as the first rat model of HED and successfully identified the  swh  mutation.    Results  The  swh / swh  rat showed sparse hair, abnormal morphology of teeth, and absence of sweat glands. The ectoderm-derived glands, meibomian, preputial, and tongue glands, were absent. We mapped the  swh  mutation to the most telomeric part of rat Chr 7 and found a Pro153Ser missense mutation in the  Edaradd  gene. This mutation was located in the death domain of EDARADD, which is crucial for signal transduction and resulted in failure to activate NF-κB.    Conclusions  These findings suggest that  swh  is a loss-of-function mutation in the rat  Edaradd  and indicate that the  swh / swh  rat would be an excellent animal model of HED that could be used to investigate the pathological basis of the disease and the development of new therapies.

A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene