BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 7509230)

  • 1. 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; 2(12):2147-50. PubMed ID: 7509230
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
    Rothnagel JA; Traupe H; Wojcik S; Huber M; Hohl D; Pittelkow MR; Saeki H; Ishibashi Y; Roop DR
    Nat Genet; 1994 Aug; 7(4):485-90. PubMed ID: 7524919
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis.
    Yang JM; Nam K; Kim SW; Jung SY; Min HG; Yeo UC; Park KB; Lee JH; Suhr KB; Park JK; Lee ES
    J Dermatol Sci; 1999 Feb; 19(2):126-33. PubMed ID: 10098704
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
    Rothnagel JA; Lin MT; Longley MA; Holder RA; Hazen PG; Levy ML; Roop DR
    Prenat Diagn; 1998 Aug; 18(8):826-30. PubMed ID: 9742571
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
    Arin MJ; Longley MA; Anton-Lamprecht I; Kurze G; Huber M; Hohl D; Rothnagel JA; Roop DR
    J Invest Dermatol; 1999 Apr; 112(4):506-8. PubMed ID: 10201536
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
    Syder AJ; Yu QC; Paller AS; Giudice G; Pearson R; Fuchs E
    J Clin Invest; 1994 Apr; 93(4):1533-42. PubMed ID: 7512983
    [TBL] [Abstract][Full Text] [Related]  

  • 10. An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
    Arin MJ; Longley MA; Küster W; Huber M; Hohl D; Rothnagel JA; Roop DR
    Exp Dermatol; 1999 Apr; 8(2):124-7. PubMed ID: 10232403
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
    Arin MJ; Longley MA; Epstein EH; Rothnagel JA; Roop DR
    Exp Dermatol; 2000 Feb; 9(1):16-9. PubMed ID: 10688370
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 8(6):501-3. PubMed ID: 10597140
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
    Sprecher E; Yosipovitch G; Bergman R; Ciubutaro D; Indelman M; Pfendner E; Goh LC; Miller CJ; Uitto J; Richard G
    J Invest Dermatol; 2003 Apr; 120(4):623-6. PubMed ID: 12648226
    [TBL] [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; 111(6):1224-6. PubMed ID: 9856846
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.
    Rothnagel JA; Wojcik S; Liefer KM; Dominey AM; Huber M; Hohl D; Roop DR
    J Invest Dermatol; 1995 Mar; 104(3):430-3. PubMed ID: 7532199
    [TBL] [Abstract][Full Text] [Related]  

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

  • 18. 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; 29(3):195-200. PubMed ID: 12234709
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.
    Shamsher MK; Navsaria HA; Stevens HP; Ratnavel RC; Purkis PE; Kelsell DP; McLean WH; Cook LJ; Griffiths WA; Gschmeissner S
    Hum Mol Genet; 1995 Oct; 4(10):1875-81. PubMed ID: 8595410
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.