Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

    November 2018 in “ American journal of human genetics ”
    Maria Teresa Romano, Aylar Tafazzoli, Maximilian Mattern … Regina C. Betz
    Studysummary This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
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    Research cited in this study 7

    1. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016
    2. Mutations in SNRPE, Which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex The American Journal of Human Genetics · 2012
    3. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011
    4. Integral Hair Lipid in Human Hair Follicle Journal of dermatological science · 2011
    5. APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex Nature · 2010
    6. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006
    7. Characterization of the Lipid Composition at the Proximal Root Regions of Human Hair International Journal of Cosmetic Science · 2005