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    GlossaryKeratinization Disorders

    abnormal keratin production causing skin, hair, and nail issues

    Keratinization disorders are conditions where the process of keratinization, the formation of the protein keratin in the skin, hair, and nails, is abnormal. This can lead to symptoms like thickened skin, scaling, and other skin abnormalities. Examples include psoriasis and ichthyosis, where the skin cells produce too much keratin or shed improperly, causing visible and sometimes uncomfortable skin changes.

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      Keratin Disorders: From Gene to Therapy

      research Keratin Disorders: From Gene to Therapy

      109 citations, September 2011 in “Human molecular genetics online/Human molecular genetics”
      New treatments targeting specific genes show promise for treating keratin disorders.

      research Building Models for Keratin Disorders

      4 citations, April 2012 in “˜The œjournal of investigative dermatology/Journal of investigative dermatology”
      Krt16-deficient mice help understand skin disorders like PC and FNEPPK.

      research The Keratins and Their Disorders

      53 citations, September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics”
      Mutations in keratin genes cause cell fragility and various skin disorders.
      Keratin 71 Mutations: From Water Dogs to Woolly Hair

      research Keratin 71 Mutations: From Water Dogs to Woolly Hair

      11 citations, September 2012 in “˜The œjournal of investigative dermatology/Journal of investigative dermatology”
      A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.

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