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Journal Abstract Search

234 related items for PubMed ID: 7516304

  • 21. Keratin 9 point mutation in the pedigree of epidermolytic hereditary palmoplantar keratoderma perturbs keratin intermediate filament network formation.
    Kobayashi S, Tanaka T, Matsuyoshi N, Imamura S.
    FEBS Lett; 1996 May 20; 386(2-3):149-55. PubMed ID: 8647270
    [Abstract] [Full Text] [Related]

  • 22. 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 May 20; 14(6):375-8. PubMed ID: 15564199
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. A novel mutation of keratin 9 gene (R162P) in a Japanese family with epidermolytic palmoplantar keratoderma.
    Kon A, Itagaki K, Yoneda K, Takagaki K.
    Arch Dermatol Res; 2005 Feb 15; 296(8):375-8. PubMed ID: 15605275
    [Abstract] [Full Text] [Related]

  • 25. Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster.
    Hennies HC, Küster W, Mischke D, Reis A.
    Hum Mol Genet; 1995 Jun 15; 4(6):1015-20. PubMed ID: 7544663
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  • 26. Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.
    Reis A, Küster W, Eckardt R, Sperling K.
    Hum Genet; 1992 Jun 15; 90(1-2):113-6. PubMed ID: 1385292
    [Abstract] [Full Text] [Related]

  • 27. Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
    Hatsell SJ, Eady RA, Wennerstrand L, Dopping-Hepenstal P, Leigh IM, Munro C, Kelsell DP.
    J Invest Dermatol; 2001 Apr 15; 116(4):606-9. PubMed ID: 11286630
    [Abstract] [Full Text] [Related]

  • 28. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma.
    Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM.
    J Invest Dermatol; 1995 Mar 15; 104(3):425-9. PubMed ID: 7532198
    [Abstract] [Full Text] [Related]

  • 29. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1.
    Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD.
    J Invest Dermatol; 2002 Oct 15; 119(4):966-71. PubMed ID: 12406346
    [Abstract] [Full Text] [Related]

  • 30. 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 15; 36(10):1857-1862. PubMed ID: 35490383
    [Abstract] [Full Text] [Related]

  • 31. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.
    Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA.
    J Invest Dermatol; 2002 May 15; 118(5):838-44. PubMed ID: 11982762
    [Abstract] [Full Text] [Related]

  • 32. A novel mutation of keratin 9 in a large Chinese family with epidermolytic palmoplantar keratoderma.
    He XH, Zhang XN, Mao W, Chen HP, Xu LR, Chen H, He XL, Le YP.
    Br J Dermatol; 2004 Apr 15; 150(4):647-51. PubMed ID: 15099359
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  • 34. Keratin-9 gene mutation in a family with epidermolytic palmoplantar keratoderma.
    Amichai B, Karpati M, Goldman B, Peleg L.
    J Eur Acad Dermatol Venereol; 2002 Mar 15; 16(2):134-6. PubMed ID: 12046815
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  • 36. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis.
    Bonifas JM, Matsumura K, Chen MA, Berth-Jones J, Hutchison PE, Zloczower M, Fritsch PO, Epstein EH.
    J Invest Dermatol; 1994 Oct 15; 103(4):474-7. PubMed ID: 7523529
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  • 38. Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
    Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM.
    Clin Exp Dermatol; 2010 Oct 15; 35(7):759-64. PubMed ID: 19874353
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