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Journal Abstract Search

144 related items for PubMed ID: 10232402

  • 1. Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma.
    McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB.
    Exp Dermatol; 1999 Apr; 8(2):120-3. PubMed ID: 10232402
    [Abstract] [Full Text] [Related]

  • 2. A case of bullous congenital ichthyosiform erythroderma (BCIE) caused by a mutation in the 1A helix initiation motif of keratin 1.
    Uezato H, Yamamoto Y, Kuwae C, Nonaka K, Oshiro M, Kariya K, Nonaka S.
    J Dermatol; 2005 Oct; 32(10):801-8. PubMed ID: 16361731
    [Abstract] [Full Text] [Related]

  • 3. Disruption of the suprabasal keratin network by mutation M150T in the helix initiation motif of keratin 10 does not affect cornified cell envelope formation in human epidermis.
    Akiyama M, Takizawa Y, Sawamura D, Matsuo I, Shimizu H.
    Exp Dermatol; 2003 Oct; 12(5):638-45. PubMed ID: 14705805
    [Abstract] [Full Text] [Related]

  • 4. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1.
    Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH.
    Am J Hum Genet; 1999 Mar; 64(3):732-8. PubMed ID: 10053007
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
    McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM.
    J Invest Dermatol; 1994 Jan; 102(1):24-30. PubMed ID: 7507152
    [Abstract] [Full Text] [Related]

  • 6. Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma.
    Mayuzumi N, Shigihara T, Ikeda S, Ogawa H.
    J Eur Acad Dermatol Venereol; 2000 Jul; 14(4):304-6. PubMed ID: 11204523
    [Abstract] [Full Text] [Related]

  • 7. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).
    Ishida-Yamamoto A, McGrath JA, Judge MR, Leigh IM, Lane EB, Eady RA.
    J Invest Dermatol; 1992 Jul; 99(1):19-26. PubMed ID: 1376754
    [Abstract] [Full Text] [Related]

  • 8. Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene.
    Cserhalmi-Friedman PB, Squeo R, Gordon D, Garzon M, Schneiderman P, Grossman ME, Christiano AM.
    Clin Exp Dermatol; 2000 May; 25(3):241-3. PubMed ID: 10844506
    [Abstract] [Full Text] [Related]

  • 9. A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
    Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.
    Jpn J Hum Genet; 1997 Mar; 42(1):217-23. PubMed ID: 9184002
    [Abstract] [Full Text] [Related]

  • 10. Phenotypic heterogeneity in bullous congenital ichthyosiform erythroderma: possible somatic mosaicism for keratin gene mutation in the mildly affected mother of the proband.
    Nomura K, Umeki K, Hatayama I, Kuronuma T.
    Arch Dermatol; 2001 Sep; 137(9):1192-5. PubMed ID: 11559215
    [Abstract] [Full Text] [Related]

  • 11. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens.
    Whittock NV, Ashton GH, Griffiths WA, Eady RA, McGrath JA.
    Br J Dermatol; 2001 Aug; 145(2):330-5. PubMed ID: 11531804
    [Abstract] [Full Text] [Related]

  • 12. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.
    Fuchs E, Esteves RA, Coulombe PA.
    Proc Natl Acad Sci U S A; 1992 Aug 01; 89(15):6906-10. PubMed ID: 1379726
    [Abstract] [Full Text] [Related]

  • 13. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
    Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, Huber M, Frenk E, Hohl D, Roop DR.
    Science; 1992 Aug 21; 257(5073):1128-30. PubMed ID: 1380725
    [Abstract] [Full Text] [Related]

  • 14. Human keratin diseases: hereditary fragility of specific epithelial tissues.
    Corden LD, McLean WH.
    Exp Dermatol; 1996 Dec 21; 5(6):297-307. PubMed ID: 9028791
    [Abstract] [Full Text] [Related]

  • 15. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.
    Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM.
    J Invest Dermatol; 1998 Dec 21; 111(6):1224-6. PubMed ID: 9856846
    [Abstract] [Full Text] [Related]

  • 16. Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patients.
    Sun XK, Ma LL, Xie YQ, Zhu XJ.
    J Dermatol Sci; 2002 Sep 21; 29(3):195-200. PubMed ID: 12234709
    [Abstract] [Full Text] [Related]

  • 17. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
    Rothnagel JA, Fisher MP, Axtell SM, Pittelkow MR, Anton-Lamprecht I, Huber M, Hohl D, Roop DR.
    Hum Mol Genet; 1993 Dec 21; 2(12):2147-50. PubMed ID: 7509230
    [Abstract] [Full Text] [Related]

  • 18. Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.
    Michael EJ, Schneiderman P, Grossman ME, Christiano AM.
    Exp Dermatol; 1999 Dec 21; 8(6):501-3. PubMed ID: 10597140
    [Abstract] [Full Text] [Related]

  • 19. 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 21; 150(6):1096-103. PubMed ID: 15214894
    [Abstract] [Full Text] [Related]

  • 20. Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
    McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM.
    J Invest Dermatol; 1994 Sep 21; 103(3):277-81. PubMed ID: 7521371
    [Abstract] [Full Text] [Related]

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