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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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| Veröffentlicht in: | Biol Open |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
The Company of Biologists Ltd
2017
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| Schlagworte: | |
| Online Zugang: | 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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