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Journal Abstract Search

179 related items for PubMed ID: 22668561

  • 1. Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
    Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN.
    Eur J Dermatol; 2012; 22(4):476-80. PubMed ID: 22668561
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  • 4. A large mutational study in pachyonychia congenita.
    Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ.
    J Invest Dermatol; 2011 May; 131(5):1018-24. PubMed ID: 21326300
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  • 5. The molecular genetic analysis of the expanding pachyonychia congenita case collection.
    Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ.
    Br J Dermatol; 2014 Aug; 171(2):343-55. PubMed ID: 24611874
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  • 6. Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
    Abdollahimajd F, Rajabi F, Shahidi-Dadras M, Saket S, Youssefian L, Vahidnezhad H, Uitto J.
    Br J Dermatol; 2019 Sep; 181(3):584-586. PubMed ID: 30307612
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  • 10. A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.
    Liang J, Li R, Liu C, Cai Y, Liu Y, Chen P, Zeng K, Li C.
    Heliyon; 2024 Mar 15; 10(5):e27195. PubMed ID: 38468954
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  • 12. Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
    Liu J, Zhong W, Yu B, Lin Z, Zheng Y, Hu X.
    Pediatr Dermatol; 2020 Sep 15; 37(5):974-976. PubMed ID: 32662074
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  • 13. Mutation p.Leu128Pro in the 1A domain of K16 causes pachyonychia congenita with focal palmoplantar keratoderma in a Chinese family.
    Dai L, Wu J, Guo H, Huang Y, Zhang K, Liu D, Fu L, Wu Y, Guan X, Bai Y, Liao Q.
    Eur J Pediatr; 2014 Jun 15; 173(6):737-41. PubMed ID: 24357266
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  • 14. Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment.
    Zieman AG, Coulombe PA.
    Br J Dermatol; 2020 Mar 15; 182(3):564-573. PubMed ID: 31021398
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  • 18. Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.
    Lessard JC, Coulombe PA.
    J Invest Dermatol; 2012 May 15; 132(5):1384-91. PubMed ID: 22336941
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  • 19. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
    Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.
    J Am Acad Dermatol; 2012 Oct 15; 67(4):680-6. PubMed ID: 22264670
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