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 *

143 related articles for article (PubMed ID: 10820403)

  • 1. DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex.
    Rugg EL; Baty D; Shemanko CS; Magee G; Polak S; Bergman R; Kadar T; Boxer M; Falik-Zaccai T; Borochowitz Z; Lane EB
    Prenat Diagn; 2000 May; 20(5):371-7. PubMed ID: 10820403
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease.
    Batta K; Rugg EL; Wilson NJ; West N; Goodyear H; Lane EB; Gratian M; Dopping-Hepenstal P; Moss C; Eady RA
    Br J Dermatol; 2000 Sep; 143(3):621-7. PubMed ID: 10971341
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.
    Liovic M; Bowden PE; Marks R; Komel R
    Exp Dermatol; 2004 May; 13(5):332-4. PubMed ID: 15140024
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.
    Müller FB; Küster W; Wodecki K; Almeida H; Bruckner-Tuderman L; Krieg T; Korge BP; Arin MJ
    Hum Mutat; 2006 Jul; 27(7):719-20. PubMed ID: 16786515
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.
    Morley SM; D'Alessandro M; Sexton C; Rugg EL; Navsaria H; Shemanko CS; Huber M; Hohl D; Heagerty AI; Leigh IM; Lane EB
    Br J Dermatol; 2003 Jul; 149(1):46-58. PubMed ID: 12890194
    [TBL] [Abstract][Full Text] [Related]  

  • 9. In silico analysis of all point mutations on the 2B domain of K5/K14 causing epidermolysis bullosa simplex: a genotype-phenotype correlation.
    Banerjee S; Wu Q; Yu P; Qi M; Li C
    Mol Biosyst; 2014 Oct; 10(10):2567-77. PubMed ID: 25017986
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex.
    Sørensen CB; Andresen BS; Jensen UB; Jensen TG; Jensen PK; Gregersen N; Bolund L
    Exp Dermatol; 2003 Aug; 12(4):472-9. PubMed ID: 12930305
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
    Coulombe PA; Hutton ME; Letai A; Hebert A; Paller AS; Fuchs E
    Cell; 1991 Sep; 66(6):1301-11. PubMed ID: 1717157
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel nonsense mutation at E106 of the 2B rod domain of keratin 14 causes dominant epidermolysis bullosa simplex.
    Gu LH; Ichiki Y; Sato M; Kitajima Y
    J Dermatol; 2002 Mar; 29(3):136-45. PubMed ID: 11990248
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
    Sørensen CB; Ladekjaer-Mikkelsen AS; Andresen BS; Brandrup F; Veien NK; Buus SK; Anton-Lamprecht I; Kruse TA; Jensen PK; Eiberg H; Bolund L; Gregersen N
    J Invest Dermatol; 1999 Feb; 112(2):184-90. PubMed ID: 9989794
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Epidermolysis bullosa simplex in Israel: clinical and genetic features.
    Ciubotaru D; Bergman R; Baty D; Indelman M; Pfendner E; Petronius D; Moualem H; Kanaan M; Ben Amitai D; McLean WH; Uitto J; Sprecher E
    Arch Dermatol; 2003 Apr; 139(4):498-505. PubMed ID: 12707098
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
    Uttam J; Hutton E; Coulombe PA; Anton-Lamprecht I; Yu QC; Gedde-Dahl T; Fine JD; Fuchs E
    Proc Natl Acad Sci U S A; 1996 Aug; 93(17):9079-84. PubMed ID: 8799157
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.
    Rugg EL; Horn HM; Smith FJ; Wilson NJ; Hill AJ; Magee GJ; Shemanko CS; Baty DU; Tidman MJ; Lane EB
    J Invest Dermatol; 2007 Mar; 127(3):574-80. PubMed ID: 17039244
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex.
    Corden LD; Mellerio JE; Gratian MJ; Eady RA; Harper JI; Lacour M; Magee G; Lane EB; McGrath JA; McLean WH
    Hum Mutat; 1998; 11(4):279-85. PubMed ID: 9554744
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients].
    Sørensen CB; Ladekjaer-Mikkelsen AS; Andresen BS; Brandrup F; Veien NK; Buus SK; Anton-Lamprecht I; Kruse T; Jensen PK; Eiberg H; Bolund L; Gregersen N
    Ugeskr Laeger; 2000 Mar; 162(13):1873-6. PubMed ID: 10765693
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex.
    Chan YM; Cheng J; Gedde-Dahl T; Niemi KM; Fuchs E
    J Invest Dermatol; 1996 Feb; 106(2):327-34. PubMed ID: 8601736
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.