BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

349 related articles for article (PubMed ID: 15324323)

  • 1. 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]  

  • 2. 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]  

  • 3. Epidermolysis bullosa simplex with mottled pigmentation due to de novo P25L mutation in keratin 5 in an Italian patient.
    Pascucci M; Posteraro P; Pedicelli C; Provini A; Auricchio L; Paradisi M; Castiglia D
    Eur J Dermatol; 2006; 16(6):620-2. PubMed ID: 17229601
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel keratin 5 and 14 gene mutations in patients with epidermolysis bullosa simplex from Poland.
    Hamada T; Kawano Y; Szczecinska W; Wozniak K; Yasumoto S; Kowalewski C; Hashimoto T
    Arch Dermatol Res; 2005 Jun; 296(12):577-9. PubMed ID: 15827748
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
    Yasukawa K; Sawamura D; Goto M; Nakamura H; Jung SY; Kim SC; Shimizu H
    Br J Dermatol; 2006 Aug; 155(2):313-7. PubMed ID: 16882168
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. A novel autosomal partially dominant mutation designated G476D in the keratin 5 gene causing epidermolysis bullosa simplex Weber-Cockayne type: a family study with a genetic twist.
    Kowalewski C; Hamada T; Wozniak K; Kawano Y; Szczecinska W; Yasumoto S; Schwartz RA; Hashimoto T
    Int J Mol Med; 2007 Jul; 20(1):75-8. PubMed ID: 17549391
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition.
    Chamcheu JC; Lorié EP; Akgul B; Bannbers E; Virtanen M; Gammon L; Moustakas A; Navsaria H; Vahlquist A; Törmä H
    J Dermatol Sci; 2009 Mar; 53(3):198-206. PubMed ID: 19157792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

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

  • 12. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
    Schuilenga-Hut PH; Vlies Pv; Jonkman MF; Waanders E; Buys CH; Scheffer H
    Hum Mutat; 2003 Apr; 21(4):447. PubMed ID: 12655565
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.
    Yiasemides E; Trisnowati N; Su J; Dang N; Klingberg S; Marr P; Melbourne W; Tran K; Chow CW; Orchard D; Varigos G; Murrell DF
    Clin Exp Dermatol; 2008 Nov; 33(6):689-97. PubMed ID: 18713255
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure.
    Jerábková B; Marek J; Bucková H; Kopecková L; Veselý K; Valícková J; Fajkus J; Fajkusová L
    Br J Dermatol; 2010 May; 162(5):1004-13. PubMed ID: 20030639
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.
    Dong W; Ryynänen M; Uitto J
    Hum Mutat; 1993; 2(2):94-102. PubMed ID: 7686424
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
    Bolling MC; Lemmink HH; Jansen GH; Jonkman MF
    Br J Dermatol; 2011 Mar; 164(3):637-44. PubMed ID: 21375516
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes.
    Chamcheu JC; Virtanen M; Navsaria H; Bowden PE; Vahlquist A; Törmä H
    Br J Dermatol; 2010 May; 162(5):980-9. PubMed ID: 20128788
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.