Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

    October 2008 in “ Journal of Investigative Dermatology ”
    Thomas Alef, Serena Torres, Ingrid Haußer … Hans Christian Hennies
    Studysummary This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
    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
    Read the full study on jidonline.org →
    Discuss this study in the Community →

    Research cited in this study 8

    1. Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype Clinical Genetics · 2008
    2. Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007
    3. Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis American Journal Of Pathology · 2006
    4. Matriptase: Potent Proteolysis on the Cell Surface Molecular Medicine · 2006
    5. Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity Nature Genetics · 2004
    6. Epidermal Differentiation: The Role of Proteases and Their Inhibitors European Journal of Cell Biology · 2004
    7. Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis Oncogene · 2002
    8. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy Medical Entomology and Zoology · 1989

    Related research 4

    1. A Novel Mutation in ST14 at a Functionally Significant Amino Acid Residue Expands the Spectrum of Ichthyosis-Hypotrichosis Syndrome Orphanet Journal of Rare Diseases · 2017
    2. Updated Strategies for the Management, Pathogenesis, and Molecular Genetics of Different Forms of Ichthyosis Syndromes with Prominent Hair Abnormalities Archives of dermatological research · 2017
    3. Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008
    4. Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype Clinical Genetics · 2008