A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

    August 2008 in “ Human molecular genetics online/Human molecular genetics ”
    Katherine A. Fantauzzo, Marija Tadin‐Strapps, Yun You … Angela M. Christiano
    Studysummary This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
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    Research cited in this study 3

    1. Dynamic Expression of the Zinc-Finger Transcription Factor Trps1 During Hair Follicle Morphogenesis and Cycling Gene Expression Patterns · 2007
    2. FOXN1 Is Critical for Onycholemmal Terminal Differentiation in Nude (Foxn1nu) Mice ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2004
    3. A New Case of Ambras Syndrome Associated with a Paracentric Inversion (8) (q12; q22) Clinical Genetics · 1998