BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

241 related articles for article (PubMed ID: 7525407)

  • 1. A functional "knockout" of human keratin 14.
    Rugg EL; McLean WH; Lane EB; Pitera R; McMillan JR; Dopping-Hepenstal PJ; Navsaria HA; Leigh IM; Eady RA
    Genes Dev; 1994 Nov; 8(21):2563-73. PubMed ID: 7525407
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
    Chan Y; Anton-Lamprecht I; Yu QC; Jäckel A; Zabel B; Ernst JP; Fuchs E
    Genes Dev; 1994 Nov; 8(21):2574-87. PubMed ID: 7525408
    [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. 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]  

  • 5. Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.
    Peters B; Kirfel J; Büssow H; Vidal M; Magin TM
    Mol Biol Cell; 2001 Jun; 12(6):1775-89. PubMed ID: 11408584
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Epidermolysis bullosa simplex.
    Coulombe PA; Fuchs E
    Semin Dermatol; 1993 Sep; 12(3):173-90. PubMed ID: 7692916
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.
    Letai A; Coulombe PA; McCormick MB; Yu QC; Hutton E; Fuchs E
    Proc Natl Acad Sci U S A; 1993 Apr; 90(8):3197-201. PubMed ID: 7682695
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.
    Rugg EL; Morley SM; Smith FJ; Boxer M; Tidman MJ; Navsaria H; Leigh IM; Lane EB
    Nat Genet; 1993 Nov; 5(3):294-300. PubMed ID: 7506097
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
    Hovnanian A; Pollack E; Hilal L; Rochat A; Prost C; Barrandon Y; Goossens M
    Nat Genet; 1993 Apr; 3(4):327-32. PubMed ID: 7526933
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex.
    Kerns ML; DePianto D; Dinkova-Kostova AT; Talalay P; Coulombe PA
    Proc Natl Acad Sci U S A; 2007 Sep; 104(36):14460-5. PubMed ID: 17724334
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Distinct Impact of Two Keratin Mutations Causing Epidermolysis Bullosa Simplex on Keratinocyte Adhesion and Stiffness.
    Homberg M; Ramms L; Schwarz N; Dreissen G; Leube RE; Merkel R; Hoffmann B; Magin TM
    J Invest Dermatol; 2015 Oct; 135(10):2437-2445. PubMed ID: 25961909
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.
    Lane EB; Rugg EL; Navsaria H; Leigh IM; Heagerty AH; Ishida-Yamamoto A; Eady RA
    Nature; 1992 Mar; 356(6366):244-6. PubMed ID: 1372711
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.