A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

    October 2002 in “ Journal of Investigative Dermatology ”
    Izabella Klein, Reuven Bergman, M. Indelman, Eli Sprecher
    Studysummary This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
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    Research cited in this study 15

    1. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions Journal of Investigative Dermatology · 2002
    2. The Hairless Gene in Androgenetic Alopecia: Results of a Systematic Mutation Screening and a Family-Based Association Approach British Journal of Dermatology · 2002
    3. The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor Genes & Development · 2001
    4. Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2001
    5. Towards a Molecular Understanding of Hair Loss and Its Treatment Trends in Molecular Medicine · 2001
    6. Variant 1859G→A (Arg620Gln) of the Hairless Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia American Journal of Human Genetics · 2001
    7. 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
    8. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999
    9. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999
    10. 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
    11. Molecular and Functional Aspects of the Hairless (Hr) Gene in Laboratory Rodents and Humans Experimental Dermatology · 1998
    12. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    13. Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity Journal of Investigative Dermatology · 1996
    14. Atrichia and Papular Lesions: Report of a Case Dermatology · 1992
    15. Atrichia With Papular Lesions Archives of Dermatology · 1986