Inherited Disorders of the Skin in Humans and Mice: From Development to Differentiation

    Ryan F.L. O’Shaughnessy, Angela M. Christiano
    Studysummary This review discusses the molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
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    Research cited in this study 13

    1. The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene Genomics · 2004
    2. 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
    3. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001
    4. 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
    5. Induction of Basal Cell Carcinomas and Trichoepitheliomas in Mice Overexpressing GLI-1 Proceedings of the National Academy of Sciences · 2000
    6. Induction of Basal Cell Carcinomas and Trichoepitheliomas in Mice Overexpressing GLI-1 Proceedings of the National Academy of Sciences · 2000
    7. Induction of the Hair Growth Phase in Postnatal Mice by Localized Transient Expression of Sonic Hedgehog Journal of Clinical Investigation · 1999
    8. A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia Journal of Investigative Dermatology · 1999
    9. The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation American Journal Of Pathology · 1999
    10. Keratin 17 Mutations Cause Either Steatocystoma Multiplex or Pachyonychia Congenita Type 2 British Journal of Dermatology · 1998
    11. Alopecia Universalis Associated With a Mutation in the Human Hairless Gene Science · 1998
    12. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    13. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997

    Related research 7

    1. Inherited Disorders of the Skin in Humans and Mice: From Development to Differentiation The International Journal of Developmental Biology · 2004
    2. Hair Keratinization in Health and Disease Dermatologic clinics · 1996
    3. Modulation of the Differentiated Phenotype of Keratinocytes of the Hair Follicle and Epidermis Journal of Dermatological Science · 1994
    4. Solid Basal Cell Epithelioma Possibly Originates From the Outer Root Sheath of the Hair Follicle PubMed · 1993
    5. Differentiation of Basal Cell Epithelioma-Like Changes Overlying Dermatofibroma Acta Dermato Venereologica · 1991
    6. Architecture of Reconstructed Epidermis on Collagen Lattices Varies According to the Method Used: A Comparative Study Skin Pharmacology and Physiology · 1990
    7. A New Look Into an Old Problem: Keratins as Tools to Investigate Determination, Morphogenesis, and Differentiation in Skin Genes & Development · 1989