These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 7537780)

  • 1. A common keratin 5 gene mutation in epidermolysis bullosa simplex--Weber-Cockayne.
    Ehrlich P; Sybert VP; Spencer A; Stephens K
    J Invest Dermatol; 1995 May; 104(5):877-9. PubMed ID: 7537780
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.
    Chan YM; Yu QC; Fine JD; Fuchs E
    Proc Natl Acad Sci U S A; 1993 Aug; 90(15):7414-8. PubMed ID: 7688477
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
    Müller FB; Küster W; Bruckner-Tuderman L; Korge BP
    J Invest Dermatol; 1998 Nov; 111(5):900-2. PubMed ID: 9804357
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.
    Xu Z; Dong H; Sun X; Zhu X; Yang Y
    Clin Exp Dermatol; 2004 Jan; 29(1):74-6. PubMed ID: 14723728
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
    Li JG; Feng J; Xiao SX; Ai YL; Wang JM; Peng ZH
    Clin Exp Dermatol; 2004 Sep; 29(5):539-41. PubMed ID: 15347343
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.
    Chan YM; Yu QC; LeBlanc-Straceski J; Christiano A; Pulkkinen L; Kucherlapati RS; Uitto J; Fuchs E
    J Cell Sci; 1994 Apr; 107 ( Pt 4)():765-74. PubMed ID: 7520042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).
    Liovic M; Podrumac B; Dragos V; Vouk K; Komel R
    Hum Hered; 2000; 50(4):234-6. PubMed ID: 10782015
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.
    Stephens K; Zlotogorski A; Smith L; Ehrlich P; Wijsman E; Livingston RJ; Sybert VP
    Am J Hum Genet; 1995 Mar; 56(3):577-85. PubMed ID: 7534039
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote.
    Hu ZL; Smith L; Martins S; Bonifas JM; Chen H; Epstein EH
    J Invest Dermatol; 1997 Sep; 109(3):360-4. PubMed ID: 9284105
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.
    Bonifas JM; Rothman AL; Epstein EH
    Science; 1991 Nov; 254(5035):1202-5. PubMed ID: 1720261
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.
    Irvine AD; McKenna KE; Bingham A; Nevin NC; Hughes AE
    J Invest Dermatol; 1997 Dec; 109(6):815-6. PubMed ID: 9406827
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.
    Matsuki M; Hashimoto K; Yoshikawa K; Yasuno H; Yamanishi K
    Hum Mol Genet; 1995 Oct; 4(10):1999-2000. PubMed ID: 8595431
    [No Abstract]   [Full Text] [Related]  

  • 13. Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type).
    Chao SC; Yang MH; Lee SF
    J Formos Med Assoc; 2002 Apr; 101(4):287-90. PubMed ID: 12101866
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
    Stephens K; Ehrlich P; Weaver M; Le R; Spencer A; Sybert VP
    J Invest Dermatol; 1997 Mar; 108(3):349-53. PubMed ID: 9036937
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex.
    Csikós M; Szalai Z; Becker K; Sebõk B; Schneider I; Horváth A; Kárpáti S
    Exp Dermatol; 2004 Mar; 13(3):185-91. PubMed ID: 14987259
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.
    Premaratne C; Klingberg S; Glass I; Wright K; Murrell D
    Australas J Dermatol; 2002 Feb; 43(1):28-34. PubMed ID: 11869205
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
    Cummins RE; Klingberg S; Wesley J; Rogers M; Zhao Y; Murrell DF
    J Invest Dermatol; 2001 Nov; 117(5):1103-7. PubMed ID: 11710919
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Linkage of epidermolysis bullosa simplex to keratin gene loci.
    McKenna KE; Hughes AE; Bingham EA; Nevin NC
    J Med Genet; 1992 Aug; 29(8):568-70. PubMed ID: 1381443
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.
    Livingston RJ; Sybert VP; Smith LT; Dale BA; Presland RB; Stephens K
    J Invest Dermatol; 2001 Jun; 116(6):970-4. PubMed ID: 11407989
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.
    Nomura K; Shimizu H; Meng X; Umeki K; Tamai K; Sawamura D; Nagao K; Kawakami T; Nishikawa T; Hashimoto I
    J Invest Dermatol; 1996 Aug; 107(2):253-4. PubMed ID: 8757772
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.