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    Glossary Keratinization 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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    1. Keratin disorders: from gene to therapy 2011 · 109 citations
    2. Genetic disorders of keratin: are scarring alopecias a sub-set? Journal of Dermatological Science · 1994 · 14 citations
    3. Review of Keratin Disorders Harper's Textbook of Pediatric Dermatology · 2019
    4. Is the Loose Anagen Hair Syndrome a Keratin Disorder? Archives of Dermatology · 2002 · 84 citations
    5. KERATINS AND SKIN DISORDERS Cell biology international · 1996 · 28 citations
    6. Research on Keratins Reveals Unexpected Link Between Hair Disorders and Dental Decay 2014
    7. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    8. Building Models for Keratin Disorders 2012 · 4 citations
    9. Molecular Genetics of Inherited Disorders of Epidermal Keratins Encyclopedia of Life Sciences · 2009
    10. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    11. Close Shave for a Keratin Disorder—K6hf Polymorphism Linked to Pseudofolliculitis Barbae Journal of Investigative Dermatology · 2004 · 12 citations
    12. The molecular basis of human keratin disorders Human Genetics · 2009 · 79 citations
    13. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics · 1997 · 100 citations
    14. An Unusual Ala12Thr Polymorphism in the 1A α-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae Journal of Investigative Dermatology · 2004 · 88 citations
    15. The expanding significance of keratin intermediate filaments in normal and diseased epithelia Current opinion in cell biology · 2012 · 186 citations
    16. A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms International journal of molecular sciences · 2023 · 3 citations
    17. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    18. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    19. A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2012 · 78 citations
    20. Prolactin—a novel neuroendocrine regulator of human keratin expression<i>in situ</i> The FASEB Journal · 2010 · 64 citations
    21. Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family Journal of Investigative Dermatology · 2012 · 52 citations
    22. Significance of stress keratin expression in normal and diseased epithelia iScience · 2024 · 47 citations
    23. Endocrine controls of primary adult human stem cell biology: Thyroid hormones stimulate keratin 15 expression, apoptosis, and differentiation in human hair follicle epithelial stem cells in situ and in vitro European Journal of Cell Biology · 2010 · 42 citations
    24. Inherited disorders of the skin in human and mouse: from development to differentiation. The International Journal of Developmental Biology · 2004 · 25 citations
    25. p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis Journal of Investigative Dermatology · 2015 · 19 citations
    26. Characterization of Human Keratin-Associated Protein 1 Family Members 2003 · 17 citations
    27. Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin? British Journal of Dermatology · 2013 · 10 citations
    28. Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon Mammalian genome · 2004 · 8 citations
    29. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    30. Keratin function and regulation in tissue homeostasis and pathogenesis Biomolecular concepts · 2012 · 7 citations