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    Glossary Pachyonychia Congenita

    rare genetic disorder causing thickened nails and painful skin

    Pachyonychia Congenita (PC) is a rare genetic disorder characterized by thickened nails, painful calluses on the soles of the feet and palms of the hands, and other skin abnormalities. It is caused by mutations in one of several keratin genes, which are essential for the structural integrity of skin, hair, and nails.

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    Research 30 of 182

    1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    2. A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb British Journal of Dermatology · 2008 · 5 citations
    3. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    4. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    5. <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting Experimental Dermatology · 2003 · 8 citations
    6. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    7. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    8. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    9. KRT16 wt Allele Definitions · 2020
    10. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    11. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    12. Keratin 17 in disease pathogenesis: from cancer to dermatoses Journal of pathology · 2018 · 62 citations
    13. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    14. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    15. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    16. Building Models for Keratin Disorders 2012 · 4 citations
    17. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    18. Keratin disorders: from gene to therapy 2011 · 109 citations
    19. Keratins and disease at a glance Journal of Cell Science · 2012 · 87 citations
    20. Keratins and skin disease 2015 · 69 citations
    21. Keratins 6, 16, and 17 in Health and Disease: A Summary of Recent Findings Current Issues in Molecular Biology · 2024 · 37 citations
    22. Anhidrotic effect of intradermal injections of botulinum toxin—A comparison of different products and concentrations Toxicon · 2008
    23. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    24. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    25. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    26. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    27. The expanding significance of keratin intermediate filaments in normal and diseased epithelia Current opinion in cell biology · 2012 · 186 citations
    28. Type I Keratin 17 Protein Is Phosphorylated on Serine 44 by p90 Ribosomal Protein S6 Kinase 1 (RSK1) in a Growth- and Stress-dependent Fashion 2011 · 30 citations
    29. Type II Epithelial Keratin 6hf (K6hf) Is Expressed in the Companion Layer, Matrix, and Medulla in Anagen-Stage Hair Follicles Journal of Investigative Dermatology · 2003 · 60 citations
    30. The Functional Diversity of Epidermal Keratins Revealed by the Partial Rescue of the Keratin 14 Null Phenotype by Keratin 16 1999 · 53 citations