Article
WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation.
Nature communications - 7 Jun 2017
Xu Mingang, Horrell Jeremy, Snitow Melinda, Cui Jiawei, Gochnauer Heather, Syrett Camille M, Kallish Staci, Seykora John T, Liu Fei, Gaillard Dany, Katz Jonathan P, Kaestner Klaus H, Levin Brooke, Mansfield Corinne, Douglas Jennifer E, Cowart Beverly J, Tordoff Michael, Liu Fang, Zhu Xuming, Barlow Linda A, Rubin Adam I, McGrath John A, Morrisey Edward E, Chu Emily Y, Millar Sarah E
Abstract excerpt
Human WNT10A mutations are associated with developmental tooth abnormalities and adolescent onset of a broad range of ectodermal defects. Here we show that β-catenin pathway activity and adult epithelial progenitor proliferation are reduced in the absence of WNT10A, and identify Wnt-active self-renewing stem cells in affected tissues including hair follicles, sebaceous glands, taste buds, nails and sweat ducts....
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