ectodysplasins

Summary

Summary: Transmembrane proteins belonging to the tumor necrosis factor superfamily that play an essential role in the normal development of several ectodermally derived organs. Several isoforms of the ectodysplasins exist due to multiple ALTERNATIVE SPLICING of the MRNA for the protein. The isoforms ectodysplasin A1 and ectodysplasin A2 are considered biologically active and each bind distinct ECTODYSPLASIN RECEPTORS. Genetic mutations that result in loss of function of ectodysplasin result in ECTODERMAL DYSPLASIA 1, ANHIDROTIC.

Top Publications

  1. Matthijs Blankesteijn W. Has the search for a marker of activated fibroblasts finally come to an end?. J Mol Cell Cardiol. 2015;88:120-3 pubmed publisher
  2. Cui C, Sima J, Yin M, Michel M, Kunisada M, Schlessinger D. Identification of potassium and chloride channels in eccrine sweat glands. J Dermatol Sci. 2016;81:129-31 pubmed publisher
  3. Li S, Zhou J, Bu J, Ning K, Zhang L, Li J, et al. Ectodysplasin A protein promotes corneal epithelial cell proliferation. J Biol Chem. 2017;292:13391-13401 pubmed publisher
    ..Eda release into the tears plays an essential role in the maintenance of corneal epithelial homeostasis. ..
  4. Fons Romero J, Star H, Lav R, Watkins S, Harrison M, Hovorakova M, et al. The Impact of the Eda Pathway on Tooth Root Development. J Dent Res. 2017;96:1290-1297 pubmed publisher
  5. Furgerson M, Clark J, Crystal J, Wagner J, Fechheimer M, Furukawa R. Hirano body expression impairs spatial working memory in a novel mouse model. Acta Neuropathol Commun. 2014;2:131 pubmed publisher
    ..Hirano bodies likely play a complex and region specific role in the brain during neurodegenerative disease progression. ..
  6. Savasta S, Carlone G, Castagnoli R, Chiappe F, Bassanese F, Piras R, et al. X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. Cytogenet Genome Res. 2017;152:111-116 pubmed publisher
    ..To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations. ..