Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

    December 2012 in “ The American Journal of Human Genetics ”
    Sandra M. Pasternack, Melanie Refke, Elham Paknia … Regina C. Betz
    Studysummary This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
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    Research cited in this study 2

    1. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    2. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006