The Keratins and Their Disorders

    September 2004 in “ American journal of medical genetics. Part C, Seminars in medical genetics ”
    Elizabeth L. Rugg, Irene M. Leigh
    Studysummary This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
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    Research cited in this study 8

    1. K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle Journal of Investigative Dermatology · 2003
    2. The Catalog of Human Hair Keratins Journal of Biological Chemistry · 2001
    3. Genes for Intermediate Filament Proteins and the Draft Sequence of the Human Genome Journal of Cell Science · 2001
    4. A Unique Type I Keratin Intermediate Filament Gene Family Is Abundantly Expressed in the Inner Root Sheaths of Sheep and Human Hair Follicles Journal of Investigative Dermatology · 2001
    5. Localized In Vivo Genotypic and Phenotypic Correction of the Albino Mutation in Skin by RNA-DNA Oligonucleotide Nature biotechnology · 2000
    6. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    7. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    8. Mutation of a Type II Keratin Gene (K6a) in Pachyonychia Congenita Nature Genetics · 1995

    Related research 1

    1. The Keratins and Their Disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004