Genetic deletion of amphiregulin restores the normal skin phenotype in a mouse model of the human skin disease tylosis

In humans, gain-of-function (GOF) mutations in RHBDF2 cause the skin disease tylosis. We generated a mouse model of human tylosis and show that GOF mutations in RHBDF2 cause tylosis by enhancing the amount of amphiregulin (AREG) secretion. Furthermore, we show that genetic disruption of AREG amelior...

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Bibliographic Details
Main Authors: Vishnu Hosur, Benjamin E. Low, Leonard D. Shultz, Michael V. Wiles
Format: Article
Language:English
Published: The Company of Biologists 2017-08-01
Series:Biology Open
Subjects:
Online Access:http://bio.biologists.org/content/6/8/1174