Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

    November 2016 in “ American journal of human genetics ”
    F. Buket Basmanav, Laura Cau, Aylar Tafazzoli … Regina C. Betz
    Studysummary This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
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    Research cited in this study 6

    1. The Biology of Hair Diversity International Journal of Cosmetic Science · 2013
    2. Trichohyalin Mechanically Strengthens the Hair Follicle Journal of biological chemistry/˜The œJournal of biological chemistry · 2003
    3. Human Peptidylarginine Deiminase Type III: Molecular Cloning and Nucleotide Sequence of the cDNA, Properties of the Recombinant Enzyme, and Immunohistochemical Localization in Human Skin ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2000
    4. The Fate of Trichohyalin Journal of biological chemistry/˜The œJournal of biological chemistry · 1997
    5. Uncombable Hair (Pili Trianguli Et Canaliculi): Evidence for Dominant Inheritance with Complete Penetrance Based on Scanning Electron Microscopy American Journal of Medical Genetics · 1987
    6. Uncombable Hair Syndrome: Observations on Response to Biotin and Occurrence in Siblings with Ectodermal Dysplasia Journal of the American Academy of Dermatology · 1985

    Related research 2

    1. Hair Shaft Abnormalities: Clues to Diagnosis and Treatment Dermatology · 2005
    2. Uncombable-Hair Syndrome Pediatric dermatology · 1987