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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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Bibliografiske detaljer
Udgivet i:Biol Open
Main Authors: Hosur, Vishnu, Low, Benjamin E., Shultz, Leonard D., Wiles, Michael V.
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists Ltd 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5576083/
https://ncbi.nlm.nih.gov/pubmed/28655741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.026260
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