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Keywords: RHBDF2
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Journal Articles
Biol Open (2017) 6 (8): 1174–1179.
Published: 27 June 2017
...Vishnu Hosur; Benjamin E. Low; Leonard D. Shultz; Michael V. Wiles ABSTRACT 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...
Journal Articles
Biol Open (2014) 3 (12): 1151–1157.
Published: 13 November 2014
... inflammatory cytokine TNF. We have mapped a spontaneously occurring mouse mutation with a loss of hair phenotype, curly bare ( cub ), to the Rhbdf2 locus, which encodes the iRhom2 protein. The cub deletion removes the first 268 amino acids of the iRhom2 protein but is not a loss of function. We have also...