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 *

316 related articles for article (PubMed ID: 14962092)

  • 1. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex.
    Smith FJ; Morley SM; McLean WH
    J Invest Dermatol; 2004 Jan; 122(1):73-7. PubMed ID: 14962092
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex.
    Schuilenga-Hut PH; Scheffer H; Pas HH; Nijenhuis M; Buys CH; Jonkman MF
    J Invest Dermatol; 2002 Apr; 118(4):626-30. PubMed ID: 11918708
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex.
    Rugg EL; Rachet-Préhu MO; Rochat A; Barrandon Y; Goossens M; Lane EB; Hovnanian A
    Eur J Hum Genet; 1999 Apr; 7(3):293-300. PubMed ID: 10234505
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case.
    Müller FB; Anton-Lamprecht I; Küster W; Korge BP
    J Invest Dermatol; 1999 Jun; 112(6):988-90. PubMed ID: 10383750
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene.
    Titeux M; Mazereeuw-Hautier J; Hadj-Rabia S; Prost C; Tonasso L; Fraitag S; de Prost Y; Hovnanian A; Bodemer C
    J Invest Dermatol; 2006 Apr; 126(4):773-6. PubMed ID: 16439965
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. A keratin K14 gene mutation in a Japanese patient with the Dowling-Meara type of epidermolysis bullosa simplex.
    Umeki K; Nomura K; Harada K; Hashimoto I
    J Dermatol Sci; 1996 Jan; 11(1):64-9. PubMed ID: 8867769
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
    Shemanko CS; Mellerio JE; Tidman MJ; Lane EB; Eady RA
    J Invest Dermatol; 1998 Nov; 111(5):893-5. PubMed ID: 9804355
    [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. A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.
    Sasaki Y; Shimizu H; Akiyama M; Hiraoka Y; Takizawa Y; Yamada S; Morishima Y; Yamanishi K; Aiso S; Nishikawa T
    Br J Dermatol; 1999 Oct; 141(4):747-8. PubMed ID: 10583131
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 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. 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]  

  • 17. 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]  

  • 18. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case.
    Nagao-Watanabe M; Fukao T; Matsui E; Kaneko H; Inoue R; Kawamoto N; Kasahara K; Nagai M; Ichiki Y; Kitajima Y; Kondo N
    Clin Genet; 2004 Sep; 66(3):236-8. PubMed ID: 15324323
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 16.