The Genetics of Human Skin Disease

    October 2014 in “ Cold Spring Harbor Perspectives in Medicine ”
    Gina M. DeStefano, Angela M. Christiano
    Studysummary Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
    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 10

    1. Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013
    2. Genome-Wide Association Study of Skin Complex Diseases Journal of Dermatological Science · 2012
    3. Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis Development · 2011
    4. Transcriptional Profiling in Alopecia Areata Defines Immune and Cell Cycle Control Related Genes Within Disease-Specific Signatures Genomics · 2010
    5. Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity Nature · 2010
    6. A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice Human molecular genetics online/Human molecular genetics · 2008
    7. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005
    8. Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition Endocrine Reviews · 2005
    9. Polymorphism of the Androgen Receptor Gene Is Associated with Male Pattern Baldness Journal of Investigative Dermatology · 2001
    10. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995