An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription
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DOI: 10.1038/s41598-020-59455-9
Abstract: Twist1 encodes a basic helix-loop-helix transcription factor (TF), which forms homodimer or heterodimer with other TFs, like E2A, to regulate target genes’ expression. Mutations in TWIST1 are associated with Saethre-Chotzen syndrome (SCS), a rare congenital… read more here.
Keywords: transcription; penetrance; twist1; dependent transcription ... See more keywords