title: Discovery of keratin function and role in genetic diseases: the year that 1991 was.
abstract: In 1991, a set of transgenic mouse studies took the fields of cell biology and dermatology by storm in providing the first credible evidence that keratin intermediate filaments play a unique and essential role in the structural and mechanical support in keratinocytes of the epidermis. Moreover, these studies intimated that mutations altering the primary structure and function of keratin filaments underlie genetic diseases typified by cellular fragility. This Retrospective on how these studies came to be is offered as a means to highlight the 25th anniversary of these discoveries.
authors.affiliation: Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Departments of Biological Chemistry, Oncology, and Dermatology, School of Medicine, Johns Hopkins University, Baltimore, MD 21205Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, MD 21205 coulombe@jhu.edu.
authors.forename: Pierre A
authors.initials: PA
authors.lastname: Coulombe
mesh_terms: D000818:Animals; D002454:Cell Differentiation; D000078404:Epidermal Cells; D006801:Humans; D007382:Intermediate Filaments / Q000235:genetics / Q000502:physiology; D015603:Keratinocytes / Q000378:metabolism / Q000502:physiology; D007633:Keratins / Q000737:chemistry* / Q000378:metabolism*; D051379:Mice; D008822:Mice, Transgenic; D012867:Skin / Q000166:cytology; D012879:Skin Physiological Phenomena
chemical_list: D007633:Keratins