Disease Causing Homozygous Variants in the Human Hairless Gene

    December 2015 in “ International Journal of Dermatology ”
    Sabba Mehmood, Abid Jan, Syed M. Raza … Saadullah Khan
    Studysummary In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
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    Research cited in this study 13

    1. A Newly Identified Missense Mutation of the HR Gene Is Associated with a Novel, Unusual Phenotype of Marie Unna Hereditary Hypotrichosis 1 Including Limb Deformities Archives of Dermatological Research · 2012
    2. Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene Journal of biological chemistry/˜The œJournal of biological chemistry · 2012
    3. Congenital Atrichia With Papular Lesions Resulting From Novel Mutations in Human Hairless Gene in Four Consanguineous Families The Journal of Dermatology · 2011
    4. Marie Unna Hereditary Hypotrichosis Caused by a Novel Mutation in the Human Hairless Transcript Experimental Dermatology · 2010
    5. Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis Nature Genetics · 2009
    6. Hairless Is a Nuclear Receptor Corepressor Essential for Skin Function Nuclear Receptor Signaling · 2009
    7. Atrichia With Papular Lesions Resulting From a Novel Insertion Mutation in the Human Hairless Gene Clinical and Experimental Dermatology · 2006
    8. Atrichia With Papular Lesions in Two Pakistani Consanguineous Families Resulting From Mutations in the Human Hairless Gene Archives of Dermatological Research · 2005
    9. Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling Proceedings of the National Academy of Sciences of the United States of America · 2005
    10. The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor Genes & Development · 2001
    11. A Novel Missense Mutation (C622G) in the Zinc-Finger Domain of the Human Hairless Gene Associated with Congenital Atrichia with Papular Lesions Experimental Dermatology · 2000
    12. A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers The American Journal of Human Genetics · 1998
    13. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998