Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling
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DOI: 10.1093/hmg/ddy412
Abstract: Noonan syndrome (NS), the most common RASopathy, is caused by mutations affecting signaling through RAS and the MAPK cascade. Recently, genome scanning has discovered novel genes implicated in NS, whose function in RAS-MAPK signaling remains… read more here.
Keywords: kelch domain; noonan syndrome; lztr1 mutations; mapk signaling ... See more keywords