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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 177

    1. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2 British Journal of Dermatology · 1998 · 175 citations
    2. 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
    3. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics · 1994 · 61 citations
    4. Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Journal of Investigative Dermatology · 2012 · 22 citations
    5. Pachyonychia Congenita-Associated Alopecia. A Microscopic Analysis Using Transverse Section Technique American Journal of Dermatopathology · 1997 · 17 citations
    6. A new type of pachyonychia congenita. PubMed · 2001 · 10 citations
    7. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    8. KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies European journal of human genetics · 2022 · 3 citations
    9. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma British Journal of Dermatology · 2013 · 2 citations
    10. Pachyonychia congenita: Sporadic onset with mutation analysis Indian dermatology online journal · 2023
    11. Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay PLoS Genetics · 2018 · 21 citations
    12. Mice Expressing a Mutant Krt75 (K6hf) Allele Develop Hair and Nail Defects Resembling Pachyonychia Congenita Journal of Investigative Dermatology · 2007 · 46 citations
    13. 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
    14. The keratins and their disorders American journal of medical genetics. Part C, Seminars in medical genetics · 2004 · 53 citations
    15. Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins IntechOpen eBooks · 2021 · 1 citations
    16. Keratin disorders: from gene to therapy 2011 · 109 citations
    17. Keratins and skin disease 2015 · 69 citations
    18. Genetic hair and nail disorders Clinics in dermatology · 2005 · 37 citations
    19. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    20. Keratins of the Human Hair Follicle International review of cytology · 2005 · 276 citations
    21. The expanding significance of keratin intermediate filaments in normal and diseased epithelia Current opinion in cell biology · 2012 · 186 citations
    22. Keratin 17 null mice exhibit age- and strain-dependent alopecia Genes & Development · 2002 · 122 citations
    23. Keratins and disease at a glance Journal of Cell Science · 2012 · 87 citations
    24. Hedgehog Signaling, Keratin 6 Induction, and Sebaceous Gland Morphogenesis American Journal Of Pathology · 2008 · 33 citations
    25. A Novel Mouse Type I Intermediate Filament Gene, Keratin 17n (K17n), Exhibits Preferred Expression in Nail Tissue Journal of Investigative Dermatology · 2004 · 31 citations
    26. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    27. Is thyrotropin-releasing hormone a novel neuroendocrine modulator of keratin expression in human skin? British Journal of Dermatology · 2013 · 10 citations
    28. <i>In vivo</i> alteration of the keratin 17 gene in hair follicles by oligonucleotide‐directed gene targeting Experimental Dermatology · 2003 · 8 citations
    29. Building Models for Keratin Disorders 2012 · 4 citations
    30. Painful thickened skin on the soles of the feet JAAD case reports · 2022