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Journal Abstract Search

191 related items for PubMed ID: 35490383

  • 1. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct; 36(10):1857-1862. PubMed ID: 35490383
    [Abstract] [Full Text] [Related]

  • 2. Keratin 9 L164P mutation in a Chinese pedigree with epidermolytic palmoplantar keratoderma, cytokeratin analysis, and literature review.
    Liu X, Qiu C, He R, Zhang Y, Zhao Y.
    Mol Genet Genomic Med; 2019 Nov; 7(11):e977. PubMed ID: 31525823
    [Abstract] [Full Text] [Related]

  • 3. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R, Khamaysi Z, Sprecher E.
    Am J Dermatopathol; 2008 Apr; 30(2):101-5. PubMed ID: 18360110
    [Abstract] [Full Text] [Related]

  • 4. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.
    Clin Exp Dermatol; 2019 Jul; 44(5):528-534. PubMed ID: 30288772
    [Abstract] [Full Text] [Related]

  • 5. Analysis of the KRT9 gene in a Mexican family with epidermolytic palmoplantar keratoderma.
    Lopez-Valdez J, Rivera-Vega MR, Gonzalez-Huerta LM, Cazarin J, Cuevas-Covarrubias S.
    Pediatr Dermatol; 2013 Jul; 30(3):354-8. PubMed ID: 23278372
    [Abstract] [Full Text] [Related]

  • 6. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.
    Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH.
    Br J Dermatol; 2004 Jun; 150(6):1096-103. PubMed ID: 15214894
    [Abstract] [Full Text] [Related]

  • 7. Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders.
    Li P, Qi J, Zhong Y, Ding A, Xiao H.
    J Proteomics; 2023 Sep 15; 287():104971. PubMed ID: 37467889
    [Abstract] [Full Text] [Related]

  • 8. A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
    Du ZF, Wei W, Wang YF, Chen XL, Chen CY, Liu WT, Lu JJ, Mao LG, Xu CM, Fang H, Zhang XN.
    Eur J Dermatol; 2011 Sep 15; 21(5):675-9. PubMed ID: 21715251
    [Abstract] [Full Text] [Related]

  • 9. A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
    Calì F, Failla P, Vinci M, Siragusa M, Schepis C.
    Dermatol Online J; 2020 Jul 15; 26(7):. PubMed ID: 32898404
    [Abstract] [Full Text] [Related]

  • 10. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1.
    Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E.
    Clin Exp Dermatol; 2005 Jan 15; 30(1):64-7. PubMed ID: 15663507
    [Abstract] [Full Text] [Related]

  • 11. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
    Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE.
    J Invest Dermatol; 2003 Nov 15; 121(5):1013-20. PubMed ID: 14708600
    [Abstract] [Full Text] [Related]

  • 12. Identification of a Novel Keratin 9 Missense Mutation in a Chinese Family with Epidermolytic Palmoplantar Keratoderma.
    Xiao H, Guo Y, Yi J, Xia H, Xu H, Yuan L, Hu P, Yang Z, He Z, Lu H, Deng H.
    Cell Physiol Biochem; 2018 Nov 15; 46(5):1919-1929. PubMed ID: 29719290
    [Abstract] [Full Text] [Related]

  • 13. The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
    Liu WT, Ke HP, Zhao Y, Chen XL, Lu JJ, Du ZF, Yu D, Zhang XN.
    Anat Rec (Hoboken); 2012 Apr 15; 295(4):604-9. PubMed ID: 22262370
    [Abstract] [Full Text] [Related]

  • 14. Identification of the keratin K9 R162W mutation in patients of Italian origin with epidermolytic palmoplantar keratoderma.
    Terrinoni A, Cocuroccia B, Gubinelli E, Zambruno G, Candi E, Melino G, Girolomoni G.
    Eur J Dermatol; 2004 Apr 15; 14(6):375-8. PubMed ID: 15564199
    [Abstract] [Full Text] [Related]

  • 15. Six generations of epidermolytic palmoplantar keratoderma, associated with a KRT9 R163W mutation.
    Wang P, Kang XJ, Tang XH, Liu JY, Li WZ, Wang WJ, Liang SN, Feng YY, Ding Y, Chen WJ.
    Cancer Genet; 2016 Nov 15; 209(11):515-524. PubMed ID: 27864007
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  • 17. A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma.
    Chen N, Sun J, Song Y, Wei X, Shi Y, Zhang L.
    J Cosmet Dermatol; 2017 Sep 15; 16(3):402-406. PubMed ID: 27726289
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